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11beta hydroxysteroid dehydrogenase 2 5-HTT ALK1 Adams-Oliver syndrome Autoantibodies Autoimmune Disease Autoimmune Diseases Autoimmune Thyroid Disease Autoimmunity Autoreactivity B cells BMPR2 Bmjconvert Bronchitis, Chronic CARDASIL Case-Control Studies Caucasian Caveolin Cerebral small vessel diseases Chi-Square Distribution Chromosomes, Human, Pair 5 Coagulation CpG island Endocrinology Europe European Continental Ancestry Group FRMD7 Female preponderance Finland Gene Frequency Gene identification Gene mutation Gene therapy Genetic Markers Genetic Predisposition to Disease Genetic Variation Genetic association studies Genetic epidemiology Genetics Genetics research Genome-wide association studies Genome-wide association study Genomic Graves Ophthalmopathy Graves disease Graves' disease Great Britain HSD11B2 gene Haploinsufficiency Hashimoto's Thyroiditis Hereditary haemorrhagic telangiectasia Humans Hypertension IL10 protein, human IL1A protein, human IL1B protein, human IL1RN protein, human IL6 protein, human Idiopathic congenital nystagmus Interleukin 1 Receptor Antagonist Protein Interleukin-10 Interleukin-1alpha Interleukin-1beta Interleukin-3 Interleukin-6 Interleukins Kidney Kidney Failure, Chronic Kidney transplant Lacunar stroke Leukoaraiosis Linkage (Genetics) Mutation review Neurology Odds Ratio Pancreas Transplantation Phenotype Physical mapping Polymorphism, Single Nucleotide Protein Tyrosine Phosphatase, Non-Receptor Type 12 Protein type II receptor Pulmonary Disease, Chronic Obstructive Pulmonary Emphysema Pulmonary Surfactant-Associated Protein B Pulmonary arterial hypertension Pulmonary hypertension Receptors, Thyrotropin Review Rho GTPases SERPINA1 protein, human Stroke Transplantation Tumor Necrosis Factor-alpha Type 1 diabetes United Kingdom, Asian Continental Ancestry Group Uteroglobin Vital Capacity Vitamin D-Binding Protein World Symposium X chromosome alpha 1 antitrypsin alpha 1 antitrypsin deficiency alpha 1-Antitrypsin alpha 1-Antitrypsin Deficiency amniocentesis article blood case control study chromosome 5q chronic bronchitis chronic kidney failure chronic obstructive lung disease cohort analysis controlled study data base disease association disease severity endocrine ophthalmopathy epigenetics ethnology eukoaraiosis female fetus development forced expiratory volume gene gene expression gene expression regulation gene replication genetic linkage genetic polymorphism genetic predisposition genetic variability genetics genotype glucocorticoid graves disease human interleukin 1 receptor blocking agent interleukin 10 interleukin 1alpha interleukin 1beta interleukin 3, article interleukin 6 interleukin derivative, adult intrauterine growth retardation low birth weight lung emphysema major clinical study male messenger RNA metabolic disorder metabolism middle aged neurologic disease nonhuman nucleotide sequence pathophysiology phenotype pregnancy outcome premature labor prenatal exposure prenatal stress priority journal promoter region protein interaction protein microarray protein subunit protein tyrosine phosphatase rat review risk assessment single nucleotide polymorphism single nucleotide polymorphism, Adult statistics, Case-Control Studies surfactant protein B thyrotropin receptor antibody, allele transforming growth factor beta tumor necrosis factor alpha, adrenal cortex atrophy tumor necrosis factor alpha, adult vital capacity, alpha 1-Antitrypsin Deficiency vitamin D binding protein, alpha 1 antitrypsin deficiency
Number of items at this level: 278.

11beta hydroxysteroid dehydrogenase 2

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

5-HTT

Machado, Rajiv D. and Koehler, Rolf and Glissmeyer, Eric and Veal, Colin and Suntharalingam, Jay and Kim, Miryoung and Carlquist, John and Town, Margaret and Elliott, C. Gregory and Hoeper, Marius and Fijalkowska, Anna and Kurzyna, Marcin and Thomson, Jennifer R. and Gibbs, Simon R. and Wilkins, Martin R. and Seeger, Werner and Morrell, Nicholas W. and Gruenig, Ekkehard and Trembath, Richard C. and Janssen, Bart (2006) Genetic association of the serotonin transporter in pulmonary arterial hypertension. American journal of respiratory and critical care medicine, 173 (7). pp. 793-797. ISSN 1535-4970

ALK1

Harrison, R. E. and Flanagan, J. A. and Sankelo, M. and Abdalla, S. A. and Rowell, J. and Machado, R. D. and Elliott, C. G. and Robbins, I. M. and Olschewski, H. and McLaughlin, V. and Gruenig, E. and Kermeen, F. and Halme, M. and Räisänen-Sokolowski, A. and Laitinen, T. and Morrell, N. W. and Trembath, R. C. (2003) Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. Journal of medical genetics, 40 (12). pp. 865-71. ISSN 0022-2593

Trembath, R. C. and Thomson, J. R. and Machado, Rajiv D. and Morgan, N. V. and Atkinson, C. and Winship, I. and Simonneau, G. and Galie, N. and Loyd, J. E. and Humbert, M. and Nichols, W .C. and Morrell, N. W. and Berg, J. and Manes, A. and McGaughran, J. and Pauciulo, M. and Wheeler, L. (2001) Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. The New England Journal of Medicine, 345 (5). pp. 325-334. ISSN 0028-4793

Adams-Oliver syndrome

Southgate, Laura and Machado, Rajiv D. and Snape, Katie M and Primeau, Martin and Dafou, Dimitra and Ruddy, Deborah M and Branney, Peter A and Fisher, Malcolm and Lee, Grace J. and Simpson, Michael A. and He, Yi and Bradshaw, Teisha Y. and Blaumeiser, Bettina and Winship, William S. and Reardon, Willie and Maher, Eamonn R. and FitzPatrick, David R. and Wuyts, Wim and Zenker, Martin and Lamarche-Vane, Nathalie and Trembath, Richard C. (2011) Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. American Journal of Human Genetics, 88 (5). pp. 574-85. ISSN 0002-9297

Autoantibodies

Simmonds, Matthew J. (2011) Evaluating the role of B cells in autoimmune disease: more than just initiators of disease? In: Advances in Medicine and Biology. Nova Science Publishers, pp. 151-176. ISBN 9781613243596

Autoimmune Disease

Simmonds, Matthew J. (2011) Evaluating the role of B cells in autoimmune disease: more than just initiators of disease? In: Advances in Medicine and Biology. Nova Science Publishers, pp. 151-176. ISBN 9781613243596

Autoimmune Diseases

Hamilton, A. and Newby, P. R. and Carr-Smith, J. D. and Disanto, G. and Allahabadia, A. and Armitage, M. and Brix, T. H. and Taylor, J.C. and Vaidya, B. and Wass, J. A. and Wiersinga, W. M. and Weetman, A. P. and Ramagopalan, S. V. and Franklyn, J. A. and Gough, S. C. L. and Simmonds, M. J. (2014) Impact of month of birth on the development of autoimmune thyroid disease in the United Kingdom and Europe. Journal of Clinical Endocrinology and Metabolism, 99 (8). ISSN 0021-972X

Simmonds, M. J. and Kavvoura, F. K. and Brand, O. J. and Newby, P. R. and Jackson, L. E. and Hargreaves, C. E. and Franklyn, J. A. and Gough, S. C. L. (2014) Skewed X chromosome inactivation and female preponderance in autoimmune thyroid disease: an association study and meta-analysis. Journal of Clinical Endocrinology and Metabolism, 99 (1). ISSN 0021-972X

Autoimmune Thyroid Disease

Hamilton, A. and Newby, P. R. and Carr-Smith, J. D. and Disanto, G. and Allahabadia, A. and Armitage, M. and Brix, T. H. and Taylor, J.C. and Vaidya, B. and Wass, J. A. and Wiersinga, W. M. and Weetman, A. P. and Ramagopalan, S. V. and Franklyn, J. A. and Gough, S. C. L. and Simmonds, M. J. (2014) Impact of month of birth on the development of autoimmune thyroid disease in the United Kingdom and Europe. Journal of Clinical Endocrinology and Metabolism, 99 (8). ISSN 0021-972X

Autoimmunity

Simmonds, Matthew J. and Gough, Stephen C. L. (2011) Endocrine autoimmunity. In: Oxford Textbook of Endocrinology and Diabetes (Second edition). Oxford Textbook series . Oxford University Press, Oxford, pp. 34-44. ISBN 9780199235292

Autoreactivity

Simmonds, Matthew J. (2011) Evaluating the role of B cells in autoimmune disease: more than just initiators of disease? In: Advances in Medicine and Biology. Nova Science Publishers, pp. 151-176. ISBN 9781613243596

B cells

Simmonds, Matthew J. (2011) Evaluating the role of B cells in autoimmune disease: more than just initiators of disease? In: Advances in Medicine and Biology. Nova Science Publishers, pp. 151-176. ISBN 9781613243596

BMPR2

Aldred, Micheala A and Machado, Rajiv D. and James, Victoria and Morrell, Nicholas W. and Trembath, Richard C. (2007) Characterization of the BMPR2 5'-untranslated region and a novel mutation in pulmonary hypertension. American Journal of Respiratory and Critical Care Medicine, 176 (8). pp. 819-24. ISSN 1073-449X

Lane, K. B. and Machado, R. D. and Pauciulo, M. W. and Thomson, J. R. and Phillips, J. A. and Loyd, J. E. and Nichols, W. C. and Trembath, R. C. (2000) Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. Nature Genetics, 26 (1). pp. 81-84. ISSN 1061-4036

Machado, Rajiv D. and Aldred, Micheala A. and James, Victoria and Harrison, Rachel E. and Patel, Bhakti and Schwalbe, Edward C. and Gruenig, Ekkehard and Janssen, Bart and Koehler, Rolf and Seeger, Werner and Eickelberg, Oliver and Olschewski, Horst and Elliott, C. Gregory and Glissmeyer, Eric and Carlquist, John and Kim, Miryoung and Torbicki, Adam and Fijalkowska, Anna and Szewczyk, Grzegorz and Parma, Jasmine and Abramowicz, Marc J. and Galie, Nazzareno and Morisaki, Hiroko and Kyotani, Shingo and Nakanishi, Norifumi and Morisaki, Takayuki and Humbert, Marc and Simonneau, Gerald and Sitbon, Olivier and Soubrier, Florent and Coulet, Florence and Morrell, Nicholas W. and Trembath, Richard C. (2006) Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. Human Mutation, 27 (2). pp. 121-132. ISSN 1059-7794

Machado, Rajiv D. and James, Victoria and Southwood, Mark and Harrison, Rachel E. and Atkinson, Carl and Stewart, Susan and Morrell, Nicholas W. and Trembath, Richard C. and Aldred, Micheala A. (2005) Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension. Circulation, 111 (5). pp. 607-613. ISSN 0009-7322

Machado, Rajiv D. and Pauciulo, M. W. and Thomson, J. R. and Lane, K. B. and Morgan, N. V. and Wheeler, L. and Phillips, J. A. and Newman, J. and Williams, D. and Galiè, N. and Manes, A. and McNeil, K. and Yacoub, M. and Mikhail, G. and Rogers, P. and Corris, P. and Humbert, M. and Donnai, D. and Martensson, G. and Tranebjaerg, L. and Loyd, J. E. and Trembath, R. C. and Nichols, W. C. (2001) BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. American Journal of Human Genetics, 68 (1). pp. 92-102. ISSN 0002-9297

Sankelo, Marja and Flanagan, Julia A. and Machado, Rajiv and Harrison, Rachel and Rudarakanchana, Nung and Morrell, Nicholas and Dixon, Morag and Halme, Maija and Puolijoki, Hannu and Kere, Juha and Elomaa, Outi and Kupari, Markku and Räisänen-Sokolowski, Anne and Trembath, Richard C. and Laitinen, Tarja (2005) BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. Human Mutation, 26 (2). pp. 119-24. ISSN 1059-7794

Soon, Elaine and Holmes, Alan M. and Treacy, Carmen M. and Doughty, Natalie J. and Southgate, Laura and Machado, Rajiv D. and Trembath, Richard C. and Jennings, Simon and Barker, Lucy and Nicklin, Paul and Walker, Christoph and Budd, David C. and Pepke-Zaba, Joanna and Morrell, Nicholas W. (2010) Elevated levels of inflammatory cytokines predict survival in idiopathic and familial pulmonary arterial hypertension. Circulation, 122 (9). pp. 920-927. ISSN 0009-7322

Soubrier, Florent and Chung, Wendy K. and Machado, Rajiv and Grunig, Ekkehard and Aldred, Michaela and Geraci, Mark and Loyd, James E. and Elliott, C. Gregory and Trembath, Richard C. and Newman, John H. and Humbert, Marc (2013) Genetics and genomics of pulmonary arterial hypertension. Journal of the American College of Cardiology, 62 (25 SUP). D13-D21. ISSN 0735-1097

Suntharalingam, Jay and Machado, Rajiv D. and Sharples, Linda D. and Toshner, Mark R. and Sheares, Karen K. and Hughes, Rodney J. and Jenkins, David P. and Trembath, Richard C. and Morrell, Nicholas W. and Pepke-Zaba, Joanna (2007) Demographic features, BMPR2 status and outcomes in distal chronic thromboembolic pulmonary hypertension. Thorax, 62 (7). pp. 617-622. ISSN 0040-6376

Thomson, J. R. and Machado, Rajiv D. and Pauciulo, M. W. and Morgan, N .V. and Humbert, M. and Elliott, G. C. and Ward, K. and Yacoub, M. and Mikhail, G. and Rogers, P. and Newman, J. and Wheeler, L. and Higenbottam, T. and Gibbs, J. S. and Egan, J. and Crozier, A. and Peacock, A. and Allcock, R. and Corris, P. and Loyd, J. E. and Trembath, R. C. and Nichols, W. C. (2000) Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. Journal of Medical Genetics, 37 (10). pp. 741-745. ISSN 0022-2593

Bmjconvert

Traylor, Matthew and Rutten-Jacobs, Loes C. A. and Holliday, Elizabeth G. and Malik, Rainer and Sudlow, Cathie and Rothwell, Peter M. and Maguire, Jane M. and Koblar, Simon A. and Bevan, Steve and Boncoraglio, Giorgio and Dichgans, Martin and Levi, Chris and Lewis, Cathryn M. and Markus, Hugh S. (2015) Differences in common genetic predisposition to ischemic stroke by age and sex. Stroke: a journal of cerebral circulation, 46 (11). pp. 3042-7. ISSN 0039-2499

Bronchitis, Chronic

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

CARDASIL

Opherk, C. and Gonik, M. and Duering, M. and Malik, R. and Jouvent, E. and Herve, D. and Adib-Samii, P. and Bevan, S. and Pianese, L. and Silvestri, S. and Dotti, M. T. and De Stefano, N. and Liem, M. and Boon, E. M. J. and Pescini, F. and Pachai, C. and Bracoud, L. and Muller-Myhsok, B. and Meitinger, T. and Rost, N. and Pantoni, L. and Lesnik Oberstein, S. and Federico, A. and Ragno, M. and Markus, H. S. and Tournier-Lasserve, E. and Rosand, J. and Chabriat, H. and Dichgans, M. (2014) Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL. Stroke, 45 (4). pp. 968-972. ISSN 0039-2499

Rutten-Jacobs, Loes C.A. and Traylor, Matthew and Adib-Samii, Poneh and Thijs, Vincent and Sudlow, Cathie and Rothwell, Peter M. and Boncoraglio, Giorgio and Dichgans, Martin and Bevan, Steve and Meschia, James and Levi, Christopher and Rost, Natalia S. and Rosand, Jonathan and Hassan, Ahamad and Markus, Hugh S. (2015) Common NOTCH3 variants and cerebral small-vessel disease. Stroke, 46 (6). pp. 1482-1487. ISSN 0039-2499

Case-Control Studies

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

Caucasian

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

Caveolin

Hamilton, A. and Mittal, S. and Barnardo, M. C .N. M. and Fuggle, S. V. and Friend, P. and Gough, S. C. L. and Simmonds, M. (2015) Genetic variation in Caveolin-1 correlates with long-term pancreas transplant outcome. American Journal of Transplantation . ISSN 1600-6143

Cerebral small vessel diseases

Opherk, C. and Gonik, M. and Duering, M. and Malik, R. and Jouvent, E. and Herve, D. and Adib-Samii, P. and Bevan, S. and Pianese, L. and Silvestri, S. and Dotti, M. T. and De Stefano, N. and Liem, M. and Boon, E. M. J. and Pescini, F. and Pachai, C. and Bracoud, L. and Muller-Myhsok, B. and Meitinger, T. and Rost, N. and Pantoni, L. and Lesnik Oberstein, S. and Federico, A. and Ragno, M. and Markus, H. S. and Tournier-Lasserve, E. and Rosand, J. and Chabriat, H. and Dichgans, M. (2014) Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL. Stroke, 45 (4). pp. 968-972. ISSN 0039-2499

Rutten-Jacobs, Loes C.A. and Traylor, Matthew and Adib-Samii, Poneh and Thijs, Vincent and Sudlow, Cathie and Rothwell, Peter M. and Boncoraglio, Giorgio and Dichgans, Martin and Bevan, Steve and Meschia, James and Levi, Christopher and Rost, Natalia S. and Rosand, Jonathan and Hassan, Ahamad and Markus, Hugh S. (2015) Common NOTCH3 variants and cerebral small-vessel disease. Stroke, 46 (6). pp. 1482-1487. ISSN 0039-2499

Chi-Square Distribution

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

Chromosomes, Human, Pair 5

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

Coagulation

Hanscombe, Ken B. and Traylor, Matthew and Hysi, Pirro G. and Bevan, Stephen and Dichgans, Martin and Rothwell, Peter M. and Worrall, Bradford B. and Seshadri, Sudha and Sudlow, Cathie and Williams, Frances M. K. and Markus, Hugh S. and Lewis, Cathryn M. (2015) Genetic factors influencing coagulation factor XIII B-subunit contribute to risk of ischemic stroke. Stroke, 46 (8). pp. 2069-2074. ISSN 0039-2499

CpG island

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

Endocrinology

Simmonds, Matthew J. and Gough, Stephen C. L. (2011) Endocrine autoimmunity. In: Oxford Textbook of Endocrinology and Diabetes (Second edition). Oxford Textbook series . Oxford University Press, Oxford, pp. 34-44. ISBN 9780199235292

Europe

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

European Continental Ancestry Group

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

FRMD7

Tarpey, Patrick and Thomas, Shery and Sarvananthan, Nagini and Mallya, Uma and Lisgo, Steven and Talbot, Chris J. and Roberts, Eryl O. and Awan, Musarat and Surendran, Mylvaganam and McLean, Rebecca J. and Reinecke, Robert D. and Langmann, Andrea and Lindner, Susanne and Koch, Martina and Jain, Sunila and Woodruff, Geoffrey and Gale, Richard P. and Bastawrous, Andrew and Degg, Chris and Droutsas, Konstantinos and Asproudis, Ioannis and Zubcov, Alina A. and Pieh, Christina and Veal, Colin D. and Machado, Rajiv D. and Backhouse, Oliver C. and Baumber, Laura and Constantinescu, Cris S. and Brodsky, Michael C. and Hunter, David G. and Hertle, Richard W. and Read, Randy J. and Edkins, Sarah and O'Meara, Sarah and Parker, Adrian and Stevens, Claire and Teague, Jon and Wooster, Richard and Futreal, P. Andrew and Trembath, Richard C. and Stratton, Michael R. and Raymond, F. Lucy and Gottlob, Irene (2006) Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nature Genetics, 38 (11). pp. 1242-4. ISSN 1061-4036

Female preponderance

Simmonds, M. J. and Kavvoura, F. K. and Brand, O. J. and Newby, P. R. and Jackson, L. E. and Hargreaves, C. E. and Franklyn, J. A. and Gough, S. C. L. (2014) Skewed X chromosome inactivation and female preponderance in autoimmune thyroid disease: an association study and meta-analysis. Journal of Clinical Endocrinology and Metabolism, 99 (1). ISSN 0021-972X

Finland

Sankelo, Marja and Flanagan, Julia A. and Machado, Rajiv and Harrison, Rachel and Rudarakanchana, Nung and Morrell, Nicholas and Dixon, Morag and Halme, Maija and Puolijoki, Hannu and Kere, Juha and Elomaa, Outi and Kupari, Markku and Räisänen-Sokolowski, Anne and Trembath, Richard C. and Laitinen, Tarja (2005) BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. Human Mutation, 26 (2). pp. 119-24. ISSN 1059-7794

Gene Frequency

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

Gene identification

Lane, K. B. and Machado, R. D. and Pauciulo, M. W. and Thomson, J. R. and Phillips, J. A. and Loyd, J. E. and Nichols, W. C. and Trembath, R. C. (2000) Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. Nature Genetics, 26 (1). pp. 81-84. ISSN 1061-4036

Southgate, Laura and Machado, Rajiv D. and Snape, Katie M and Primeau, Martin and Dafou, Dimitra and Ruddy, Deborah M and Branney, Peter A and Fisher, Malcolm and Lee, Grace J. and Simpson, Michael A. and He, Yi and Bradshaw, Teisha Y. and Blaumeiser, Bettina and Winship, William S. and Reardon, Willie and Maher, Eamonn R. and FitzPatrick, David R. and Wuyts, Wim and Zenker, Martin and Lamarche-Vane, Nathalie and Trembath, Richard C. (2011) Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. American Journal of Human Genetics, 88 (5). pp. 574-85. ISSN 0002-9297

Tarpey, Patrick and Thomas, Shery and Sarvananthan, Nagini and Mallya, Uma and Lisgo, Steven and Talbot, Chris J. and Roberts, Eryl O. and Awan, Musarat and Surendran, Mylvaganam and McLean, Rebecca J. and Reinecke, Robert D. and Langmann, Andrea and Lindner, Susanne and Koch, Martina and Jain, Sunila and Woodruff, Geoffrey and Gale, Richard P. and Bastawrous, Andrew and Degg, Chris and Droutsas, Konstantinos and Asproudis, Ioannis and Zubcov, Alina A. and Pieh, Christina and Veal, Colin D. and Machado, Rajiv D. and Backhouse, Oliver C. and Baumber, Laura and Constantinescu, Cris S. and Brodsky, Michael C. and Hunter, David G. and Hertle, Richard W. and Read, Randy J. and Edkins, Sarah and O'Meara, Sarah and Parker, Adrian and Stevens, Claire and Teague, Jon and Wooster, Richard and Futreal, P. Andrew and Trembath, Richard C. and Stratton, Michael R. and Raymond, F. Lucy and Gottlob, Irene (2006) Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nature Genetics, 38 (11). pp. 1242-4. ISSN 1061-4036

Gene mutation

Thomson, J. and Machado, Rajiv and Pauciulo, M. and Morgan, N. and Yacoub, M. and Corris, P. and McNeil, K. and Loyd, J. and Nichols, W. and Trembath, R. (2001) Familial and sporadic primary pulmonary hypertension is caused by BMPR2 gene mutations resulting in haploinsufficiency of the bone morphogenetic protein type II receptor. Journal of Heart and Lung Transplantation, 20 (2). p. 149. ISSN 1053-2498

Gene therapy

Machado, R. D. (2012) Seeking the right targets: gene therapy advances in pulmonary arterial hypertension. The European Respiratory Journal : official journal of the European Society for Clinical Respiratory Physiology, 39 (2). pp. 235-237. ISSN 0903-1936

Genetic Markers

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

Genetic Predisposition to Disease

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

Genetic Variation

Wood, Alice M. and Needham, Michelle and Simmonds, Matthew J. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2009) Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation. COPD: Journal of Chronic Obstructive Pulmonary Disease, 5 (6). pp. 353-359. ISSN 1541-2555

Genetic association studies

Rutten-Jacobs, Loes C.A. and Traylor, Matthew and Adib-Samii, Poneh and Thijs, Vincent and Sudlow, Cathie and Rothwell, Peter M. and Boncoraglio, Giorgio and Dichgans, Martin and Bevan, Steve and Meschia, James and Levi, Christopher and Rost, Natalia S. and Rosand, Jonathan and Hassan, Ahamad and Markus, Hugh S. (2015) Common NOTCH3 variants and cerebral small-vessel disease. Stroke, 46 (6). pp. 1482-1487. ISSN 0039-2499

Genetic epidemiology

Holliday, Elizabeth G. and Traylor, Matthew and Malik, Rainer and Bevan, Stephen and Maguire, Jane and Koblar, Simon A. and Sturm, Jonathan and Hankey, Graeme J. and Oldmeadow, Christopher and McEvoy, Mark and Sudlow, Cathie and Rothwell, Peter M. and Coresh, Josef and Hamet, Pavel and Tremblay, Johanne and Turner, Stephen T. and de Andrade, Mariza and Rao, Madhumathi and Schmidt, Reinhold and Crick, Peter A. and Robino, Antonietta and Peralta, Carmen A. and Jukema, J. Wouter and Mitchell, Paul and Rosas, Sylvia E. and Wang, Jie Jin and Scott, Rodney J. and Dichgans, Martin and Mitchell, Braxton D. and Kao, W.H. Linda and Fox, Caroline S. and Levi, Christopher and Attia, John and Markus, Hugh S. (2014) Polygenic overlap between kidney function and large artery atherosclerotic stroke. Stroke, 45 (12). pp. 3508-3513. ISSN 0039-2499

Genetics

Adib-Samii, Poneh and Devan, William and Traylor, Matthew and Lanfranconi, Silvia and Zhang, Cathy R. and Cloonan, Lisa and Falcone, Guido J. and Radmanesh, Farid and Fitzpatrick, Kaitlin and Kanakis, Allison and Rothwell, Peter M. and Sudlow, Cathie and Boncoraglio, Giorgio B. and Meschia, James F. and Levi, Chris and Dichgans, Martin and Bevan, Steve and Rosand, Jonathan and Rost, Natalia S. and Markus, Hugh S. (2015) Genetic architecture of white matter hyperintensities differs in hypertensive and nonhypertensive ischemic stroke. Stroke, 46 (2). pp. 348-353. ISSN 0039-2499

Frayling, Timothy M. and Traylor, Matthew and Mäkelä, Kari-Matti and Kilarski, Laura L. and Holliday, Elizabeth G. and Devan, William J. and Nalls, Mike A. and Wiggins, Kerri L. and Zhao, Wei and Cheng, Yu-Ching and Achterberg, Sefanja and Malik, Rainer and Sudlow, Cathie and Bevan, Steve and Raitoharju, Emma and Oksala, Niku and Thijs, Vincent and Lemmens, Robin and Lindgren, Arne and Slowik, Agnieszka and Maguire, Jane M. and Walters, Matthew and Algra, Ale and Sharma, Pankaj and Attia, John R. and Boncoraglio, Giorgio B. and Rothwell, Peter M. and de Bakker, Paul I. W. and Bis, Joshua C. and Saleheen, Danish and Kittner, Steven J. and Mitchell, Braxton D. and Rosand, Jonathan and Meschia, James F. and Levi, Christopher and Dichgans, Martin and Lehtimäki, Terho and Lewis, Cathryn M. and Markus, Hugh S. (2014) A novel MMP12 locus Is associated with large artery atherosclerotic stroke Using a genome-wide age-at-onset informed approach. PLoS Genetics, 10 (7). e1004469. ISSN 1553-7390

Gesierich, Benno and Opherk, Christian and Rosand, Jonathan and Gonik, Mariya and Malik, Rainer and Jouvent, Eric and Hervé, Dominique and Adib-Samii, Poneh and Bevan, Steve and Pianese, Luigi and Silvestri, Serena and Dotti, Maria T. and De Stefano, Nicola and van der Grond, Jeroen and Boon, Elles M. J. and Pescini, Francesca and Rost, Natalia and Pantoni, Leonardo and Lesnik Oberstein, Saskia A. and Federico, Antonio and Ragno, Michele and Markus, Hugh S. and Tournier-Lasserve, Elisabeth and Chabriat, Hugues and Dichgans, Martin and Duering, Marco and Ewers, Michael (2016) APOE ɛ2 is associated with white matter hyperintensity volume in CADASIL. Journal of Cerebral Blood Flow & Metabolism . ISSN 0271-678X

Hamilton, A. and Mittal, S. and Barnardo, M. C .N. M. and Fuggle, S. V. and Friend, P. and Gough, S. C. L. and Simmonds, M. (2015) Genetic variation in Caveolin-1 correlates with long-term pancreas transplant outcome. American Journal of Transplantation . ISSN 1600-6143

Kilarski, L. L. and Achterberg, S. and Devan, W. J. and Traylor, M. and Malik, R. and Lindgren, A. and Pare, G. and Sharma, P. and Slowik, A. and Thijs, V. and Walters, M. and Worrall, B. B. and Sale, M. M. and Algra, A. and Kappelle, L. J. and Wijmenga, C. and Norrving, B. and Sandling, J. K. and Ronnblom, L. and Goris, A. and Franke, A. and Sudlow, C. and Rothwell, P. M. and Levi, C. and Holliday, E. G. and Fornage, M. and Psaty, B. and Gretarsdottir, S. and Thorsteinsdottir, U. and Seshadri, S. and Mitchell, B. D. and Kittner, S. and Clarke, R. and Hopewell, J. C. and Bis, J. C. and Boncoraglio, G. B. and Meschia, J. and Ikram, M. A. and Hansen, B. M. and Montaner, J. and Thorleifsson, G. and Stefanson, K. and Rosand, J. and de Bakker, P. I. W. and Farrall, M. and Dichgans, M. and Markus, H. S. and Bevan, S. (2014) Meta-analysis in more than 17,900 cases of ischemic stroke reveals a novel association at 12q24.12. Neurology, 83 (8). pp. 678-685. ISSN 0028-3878

Machado, Rajiv D. and Trembath, Richard C. (2012) Genetics [chapter 3]. In: Pulmonary Arterial Hypertension. Oxford Cardiology Library . Oxford University Press, pp. 31-44. ISBN 0199572631, 9780199572632

Machado, Rajiv D. and Trembath, Richard C. and Morrell, Nicholas W. (2011) Genetics of severe pulmonary hypertension [chapter 12]. In: Pulmonary hypertension: the present and future. People’s Medical Publishing House (PMPH), USA, pp. 197-210. ISBN 1607950375, 9781607950370

Opherk, C. and Gonik, M. and Duering, M. and Malik, R. and Jouvent, E. and Herve, D. and Adib-Samii, P. and Bevan, S. and Pianese, L. and Silvestri, S. and Dotti, M. T. and De Stefano, N. and Liem, M. and Boon, E. M. J. and Pescini, F. and Pachai, C. and Bracoud, L. and Muller-Myhsok, B. and Meitinger, T. and Rost, N. and Pantoni, L. and Lesnik Oberstein, S. and Federico, A. and Ragno, M. and Markus, H. S. and Tournier-Lasserve, E. and Rosand, J. and Chabriat, H. and Dichgans, M. (2014) Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL. Stroke, 45 (4). pp. 968-972. ISSN 0039-2499

Simmonds, M. J. (2015) Utilizing genetic variation to predict and extend long-term kidney transplant function. Transplantation, 99 (10). pp. 2038-2048. ISSN 0041-1337

Simmonds, M. J. and Kavvoura, F. K. and Brand, O. J. and Newby, P. R. and Jackson, L. E. and Hargreaves, C. E. and Franklyn, J. A. and Gough, S. C. L. (2014) Skewed X chromosome inactivation and female preponderance in autoimmune thyroid disease: an association study and meta-analysis. Journal of Clinical Endocrinology and Metabolism, 99 (1). ISSN 0021-972X

Soubrier, Florent and Chung, Wendy K. and Machado, Rajiv and Grunig, Ekkehard and Aldred, Michaela and Geraci, Mark and Loyd, James E. and Elliott, C. Gregory and Trembath, Richard C. and Newman, John H. and Humbert, Marc (2013) Genetics and genomics of pulmonary arterial hypertension. Journal of the American College of Cardiology, 62 (25 SUP). D13-D21. ISSN 0735-1097

Traylor, Matthew and Rutten-Jacobs, Loes C. A. and Holliday, Elizabeth G. and Malik, Rainer and Sudlow, Cathie and Rothwell, Peter M. and Maguire, Jane M. and Koblar, Simon A. and Bevan, Steve and Boncoraglio, Giorgio and Dichgans, Martin and Levi, Chris and Lewis, Cathryn M. and Markus, Hugh S. (2015) Differences in common genetic predisposition to ischemic stroke by age and sex. Stroke: a journal of cerebral circulation, 46 (11). pp. 3042-7. ISSN 0039-2499

Genetics research

Markus, Hugh S. and Bevan, Steve (2014) Mechanisms and treatment of ischaemic stroke: insights from genetic associations. Nature Reviews Neurology, 10 (12). pp. 723-730. ISSN 1759-4758

Genome-wide association studies

Opherk, C. and Gonik, M. and Duering, M. and Malik, R. and Jouvent, E. and Herve, D. and Adib-Samii, P. and Bevan, S. and Pianese, L. and Silvestri, S. and Dotti, M. T. and De Stefano, N. and Liem, M. and Boon, E. M. J. and Pescini, F. and Pachai, C. and Bracoud, L. and Muller-Myhsok, B. and Meitinger, T. and Rost, N. and Pantoni, L. and Lesnik Oberstein, S. and Federico, A. and Ragno, M. and Markus, H. S. and Tournier-Lasserve, E. and Rosand, J. and Chabriat, H. and Dichgans, M. (2014) Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL. Stroke, 45 (4). pp. 968-972. ISSN 0039-2499

Genome-wide association study

Hanscombe, Ken B. and Traylor, Matthew and Hysi, Pirro G. and Bevan, Stephen and Dichgans, Martin and Rothwell, Peter M. and Worrall, Bradford B. and Seshadri, Sudha and Sudlow, Cathie and Williams, Frances M. K. and Markus, Hugh S. and Lewis, Cathryn M. (2015) Genetic factors influencing coagulation factor XIII B-subunit contribute to risk of ischemic stroke. Stroke, 46 (8). pp. 2069-2074. ISSN 0039-2499

Genomic

Soubrier, Florent and Chung, Wendy K. and Machado, Rajiv and Grunig, Ekkehard and Aldred, Michaela and Geraci, Mark and Loyd, James E. and Elliott, C. Gregory and Trembath, Richard C. and Newman, John H. and Humbert, Marc (2013) Genetics and genomics of pulmonary arterial hypertension. Journal of the American College of Cardiology, 62 (25 SUP). D13-D21. ISSN 0735-1097

Graves Ophthalmopathy

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

Graves disease

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

Graves' disease

Hamilton, A. and Newby, P. R. and Carr-Smith, J. D. and Disanto, G. and Allahabadia, A. and Armitage, M. and Brix, T. H. and Taylor, J.C. and Vaidya, B. and Wass, J. A. and Wiersinga, W. M. and Weetman, A. P. and Ramagopalan, S. V. and Franklyn, J. A. and Gough, S. C. L. and Simmonds, M. J. (2014) Impact of month of birth on the development of autoimmune thyroid disease in the United Kingdom and Europe. Journal of Clinical Endocrinology and Metabolism, 99 (8). ISSN 0021-972X

Great Britain

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

HSD11B2 gene

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

Haploinsufficiency

Thomson, J. and Machado, Rajiv and Pauciulo, M. and Morgan, N. and Yacoub, M. and Corris, P. and McNeil, K. and Loyd, J. and Nichols, W. and Trembath, R. (2001) Familial and sporadic primary pulmonary hypertension is caused by BMPR2 gene mutations resulting in haploinsufficiency of the bone morphogenetic protein type II receptor. Journal of Heart and Lung Transplantation, 20 (2). p. 149. ISSN 1053-2498

Hashimoto's Thyroiditis

Hamilton, A. and Newby, P. R. and Carr-Smith, J. D. and Disanto, G. and Allahabadia, A. and Armitage, M. and Brix, T. H. and Taylor, J.C. and Vaidya, B. and Wass, J. A. and Wiersinga, W. M. and Weetman, A. P. and Ramagopalan, S. V. and Franklyn, J. A. and Gough, S. C. L. and Simmonds, M. J. (2014) Impact of month of birth on the development of autoimmune thyroid disease in the United Kingdom and Europe. Journal of Clinical Endocrinology and Metabolism, 99 (8). ISSN 0021-972X

Hereditary haemorrhagic telangiectasia

Harrison, R. E. and Flanagan, J. A. and Sankelo, M. and Abdalla, S. A. and Rowell, J. and Machado, R. D. and Elliott, C. G. and Robbins, I. M. and Olschewski, H. and McLaughlin, V. and Gruenig, E. and Kermeen, F. and Halme, M. and Räisänen-Sokolowski, A. and Laitinen, T. and Morrell, N. W. and Trembath, R. C. (2003) Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. Journal of medical genetics, 40 (12). pp. 865-71. ISSN 0022-2593

Trembath, R. C. and Thomson, J. R. and Machado, Rajiv D. and Morgan, N. V. and Atkinson, C. and Winship, I. and Simonneau, G. and Galie, N. and Loyd, J. E. and Humbert, M. and Nichols, W .C. and Morrell, N. W. and Berg, J. and Manes, A. and McGaughran, J. and Pauciulo, M. and Wheeler, L. (2001) Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. The New England Journal of Medicine, 345 (5). pp. 325-334. ISSN 0028-4793

Humans

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

Wood, Alice M. and Needham, Michelle and Simmonds, Matthew J. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2009) Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation. COPD: Journal of Chronic Obstructive Pulmonary Disease, 5 (6). pp. 353-359. ISSN 1541-2555

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

Hypertension

Adib-Samii, Poneh and Devan, William and Traylor, Matthew and Lanfranconi, Silvia and Zhang, Cathy R. and Cloonan, Lisa and Falcone, Guido J. and Radmanesh, Farid and Fitzpatrick, Kaitlin and Kanakis, Allison and Rothwell, Peter M. and Sudlow, Cathie and Boncoraglio, Giorgio B. and Meschia, James F. and Levi, Chris and Dichgans, Martin and Bevan, Steve and Rosand, Jonathan and Rost, Natalia S. and Markus, Hugh S. (2015) Genetic architecture of white matter hyperintensities differs in hypertensive and nonhypertensive ischemic stroke. Stroke, 46 (2). pp. 348-353. ISSN 0039-2499

IL10 protein, human

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

IL1A protein, human

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

IL1B protein, human

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

IL1RN protein, human

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

IL6 protein, human

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Idiopathic congenital nystagmus

Tarpey, Patrick and Thomas, Shery and Sarvananthan, Nagini and Mallya, Uma and Lisgo, Steven and Talbot, Chris J. and Roberts, Eryl O. and Awan, Musarat and Surendran, Mylvaganam and McLean, Rebecca J. and Reinecke, Robert D. and Langmann, Andrea and Lindner, Susanne and Koch, Martina and Jain, Sunila and Woodruff, Geoffrey and Gale, Richard P. and Bastawrous, Andrew and Degg, Chris and Droutsas, Konstantinos and Asproudis, Ioannis and Zubcov, Alina A. and Pieh, Christina and Veal, Colin D. and Machado, Rajiv D. and Backhouse, Oliver C. and Baumber, Laura and Constantinescu, Cris S. and Brodsky, Michael C. and Hunter, David G. and Hertle, Richard W. and Read, Randy J. and Edkins, Sarah and O'Meara, Sarah and Parker, Adrian and Stevens, Claire and Teague, Jon and Wooster, Richard and Futreal, P. Andrew and Trembath, Richard C. and Stratton, Michael R. and Raymond, F. Lucy and Gottlob, Irene (2006) Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nature Genetics, 38 (11). pp. 1242-4. ISSN 1061-4036

Interleukin 1 Receptor Antagonist Protein

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Interleukin-10

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Interleukin-1alpha

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Interleukin-1beta

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Interleukin-3

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

Interleukin-6

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Interleukins

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Kidney

Holliday, Elizabeth G. and Traylor, Matthew and Malik, Rainer and Bevan, Stephen and Maguire, Jane and Koblar, Simon A. and Sturm, Jonathan and Hankey, Graeme J. and Oldmeadow, Christopher and McEvoy, Mark and Sudlow, Cathie and Rothwell, Peter M. and Coresh, Josef and Hamet, Pavel and Tremblay, Johanne and Turner, Stephen T. and de Andrade, Mariza and Rao, Madhumathi and Schmidt, Reinhold and Crick, Peter A. and Robino, Antonietta and Peralta, Carmen A. and Jukema, J. Wouter and Mitchell, Paul and Rosas, Sylvia E. and Wang, Jie Jin and Scott, Rodney J. and Dichgans, Martin and Mitchell, Braxton D. and Kao, W.H. Linda and Fox, Caroline S. and Levi, Christopher and Attia, John and Markus, Hugh S. (2014) Polygenic overlap between kidney function and large artery atherosclerotic stroke. Stroke, 45 (12). pp. 3508-3513. ISSN 0039-2499

Kidney Failure, Chronic

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Kidney transplant

Simmonds, M. J. (2015) Utilizing genetic variation to predict and extend long-term kidney transplant function. Transplantation, 99 (10). pp. 2038-2048. ISSN 0041-1337

Lacunar stroke

Rutten-Jacobs, Loes C.A. and Traylor, Matthew and Adib-Samii, Poneh and Thijs, Vincent and Sudlow, Cathie and Rothwell, Peter M. and Boncoraglio, Giorgio and Dichgans, Martin and Bevan, Steve and Meschia, James and Levi, Christopher and Rost, Natalia S. and Rosand, Jonathan and Hassan, Ahamad and Markus, Hugh S. (2015) Common NOTCH3 variants and cerebral small-vessel disease. Stroke, 46 (6). pp. 1482-1487. ISSN 0039-2499

Leukoaraiosis

Adib-Samii, Poneh and Devan, William and Traylor, Matthew and Lanfranconi, Silvia and Zhang, Cathy R. and Cloonan, Lisa and Falcone, Guido J. and Radmanesh, Farid and Fitzpatrick, Kaitlin and Kanakis, Allison and Rothwell, Peter M. and Sudlow, Cathie and Boncoraglio, Giorgio B. and Meschia, James F. and Levi, Chris and Dichgans, Martin and Bevan, Steve and Rosand, Jonathan and Rost, Natalia S. and Markus, Hugh S. (2015) Genetic architecture of white matter hyperintensities differs in hypertensive and nonhypertensive ischemic stroke. Stroke, 46 (2). pp. 348-353. ISSN 0039-2499

Linkage (Genetics)

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

Mutation review

Machado, Rajiv D. and Aldred, Micheala A. and James, Victoria and Harrison, Rachel E. and Patel, Bhakti and Schwalbe, Edward C. and Gruenig, Ekkehard and Janssen, Bart and Koehler, Rolf and Seeger, Werner and Eickelberg, Oliver and Olschewski, Horst and Elliott, C. Gregory and Glissmeyer, Eric and Carlquist, John and Kim, Miryoung and Torbicki, Adam and Fijalkowska, Anna and Szewczyk, Grzegorz and Parma, Jasmine and Abramowicz, Marc J. and Galie, Nazzareno and Morisaki, Hiroko and Kyotani, Shingo and Nakanishi, Norifumi and Morisaki, Takayuki and Humbert, Marc and Simonneau, Gerald and Sitbon, Olivier and Soubrier, Florent and Coulet, Florence and Morrell, Nicholas W. and Trembath, Richard C. (2006) Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. Human Mutation, 27 (2). pp. 121-132. ISSN 1059-7794

Neurology

Markus, Hugh S. and Bevan, Steve (2014) Mechanisms and treatment of ischaemic stroke: insights from genetic associations. Nature Reviews Neurology, 10 (12). pp. 723-730. ISSN 1759-4758

Odds Ratio

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

Pancreas Transplantation

Hamilton, A. and Mittal, S. and Barnardo, M. C .N. M. and Fuggle, S. V. and Friend, P. and Gough, S. C. L. and Simmonds, M. (2015) Genetic variation in Caveolin-1 correlates with long-term pancreas transplant outcome. American Journal of Transplantation . ISSN 1600-6143

Phenotype

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

Physical mapping

Machado, R. D. and Pauciulo, M. W. and Fretwell, N. and Veal, C. and Thomson, J. R. and Vilariño Güell, C. and Aldred, M. and Brannon, C. A. and Trembath, R. C. and Nichols, W. C. (2000) A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium. Genomics, 68 (2). pp. 220-228. ISSN 0888-7543

Polymorphism, Single Nucleotide

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

Wood, Alice M. and Needham, Michelle and Simmonds, Matthew J. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2009) Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation. COPD: Journal of Chronic Obstructive Pulmonary Disease, 5 (6). pp. 353-359. ISSN 1541-2555

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

Protein Tyrosine Phosphatase, Non-Receptor Type 12

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

Protein type II receptor

Thomson, J. and Machado, Rajiv and Pauciulo, M. and Morgan, N. and Yacoub, M. and Corris, P. and McNeil, K. and Loyd, J. and Nichols, W. and Trembath, R. (2001) Familial and sporadic primary pulmonary hypertension is caused by BMPR2 gene mutations resulting in haploinsufficiency of the bone morphogenetic protein type II receptor. Journal of Heart and Lung Transplantation, 20 (2). p. 149. ISSN 1053-2498

Pulmonary Disease, Chronic Obstructive

Wood, Alice M. and Needham, Michelle and Simmonds, Matthew J. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2009) Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation. COPD: Journal of Chronic Obstructive Pulmonary Disease, 5 (6). pp. 353-359. ISSN 1541-2555

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

Pulmonary Emphysema

Wood, Alice M. and Needham, Michelle and Simmonds, Matthew J. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2009) Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation. COPD: Journal of Chronic Obstructive Pulmonary Disease, 5 (6). pp. 353-359. ISSN 1541-2555

Pulmonary Surfactant-Associated Protein B

Wood, Alice M. and Needham, Michelle and Simmonds, Matthew J. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2009) Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation. COPD: Journal of Chronic Obstructive Pulmonary Disease, 5 (6). pp. 353-359. ISSN 1541-2555

Pulmonary arterial hypertension

Aldred, Micheala A and Machado, Rajiv D. and James, Victoria and Morrell, Nicholas W. and Trembath, Richard C. (2007) Characterization of the BMPR2 5'-untranslated region and a novel mutation in pulmonary hypertension. American Journal of Respiratory and Critical Care Medicine, 176 (8). pp. 819-24. ISSN 1073-449X

Grünig, Ekkehard and Weissmann, Sylvia and Ehlken, Nicola and Fijalkowska, Anna and Fischer, Christine and Fourme, Thierry and Galié, Nazzareno and Ghofrani, Ardeschir and Harrison, Rachel E and Huez, Sandrine and Humbert, Marc and Janssen, Bart and Kober, Jaroslaw and Koehler, Rolf and Machado, Rajiv D. and Mereles, Derliz and Naeije, Robert and Olschewski, Horst and Provencher, Steeve and Reichenberger, Frank and Retailleau, Kathleen and Rocchi, Guido and Simonneau, Gérald and Torbicki, Adam and Trembath, Richard and Seeger, Werner (2009) Stress Doppler echocardiography in relatives of patients with idiopathic and familial pulmonary arterial hypertension: results of a multicenter European analysis of pulmonary artery pressure response to exercise and hypoxia. Circulation, 119 (13). pp. 1747-1757. ISSN 0009-7322

Lane, K. B. and Machado, R. D. and Pauciulo, M. W. and Thomson, J. R. and Phillips, J. A. and Loyd, J. E. and Nichols, W. C. and Trembath, R. C. (2000) Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. Nature Genetics, 26 (1). pp. 81-84. ISSN 1061-4036

Machado, Rajiv D. and Southgate, Laura and Eichstaedt, Christina A. and Aldred, Micheala A. and Austin, Eric D. and Best, D. Hunter and Chung, Wendy K. and Benjamin, Nicola and Elliott, C. Gregory and Eyries, Mélanie and Fischer, Christine and Gräf, Stefan and Hinderhofer, Katrin and Humbert, Marc and Keiles, Steven B. and Loyd, James E. and Morrell, Nicholas W. and Newman, John H. and Soubrier, Florent and Trembath, Richard C. and Viales, Rebecca Rodríguez and Grünig, Ekkehard (2015) Pulmonary arterial hypertension: a current perspective on established and emerging molecular genetic defects. Human Mutation, 36 (12). pp. 1113-1127. ISSN 1059-7794

Machado, Rajiv D. and Trembath, Richard C. (2012) Genetics [chapter 3]. In: Pulmonary Arterial Hypertension. Oxford Cardiology Library . Oxford University Press, pp. 31-44. ISBN 0199572631, 9780199572632

Machado, Rajiv D. and Trembath, Richard C. and Morrell, Nicholas W. (2011) Genetics of severe pulmonary hypertension [chapter 12]. In: Pulmonary hypertension: the present and future. People’s Medical Publishing House (PMPH), USA, pp. 197-210. ISBN 1607950375, 9781607950370

Machado, R. D. (2012) Seeking the right targets: gene therapy advances in pulmonary arterial hypertension. The European Respiratory Journal : official journal of the European Society for Clinical Respiratory Physiology, 39 (2). pp. 235-237. ISSN 0903-1936

Machado, R. D. and Pauciulo, M. W. and Fretwell, N. and Veal, C. and Thomson, J. R. and Vilariño Güell, C. and Aldred, M. and Brannon, C. A. and Trembath, R. C. and Nichols, W. C. (2000) A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium. Genomics, 68 (2). pp. 220-228. ISSN 0888-7543

Machado, Rajiv D. and Aldred, Micheala A. and James, Victoria and Harrison, Rachel E. and Patel, Bhakti and Schwalbe, Edward C. and Gruenig, Ekkehard and Janssen, Bart and Koehler, Rolf and Seeger, Werner and Eickelberg, Oliver and Olschewski, Horst and Elliott, C. Gregory and Glissmeyer, Eric and Carlquist, John and Kim, Miryoung and Torbicki, Adam and Fijalkowska, Anna and Szewczyk, Grzegorz and Parma, Jasmine and Abramowicz, Marc J. and Galie, Nazzareno and Morisaki, Hiroko and Kyotani, Shingo and Nakanishi, Norifumi and Morisaki, Takayuki and Humbert, Marc and Simonneau, Gerald and Sitbon, Olivier and Soubrier, Florent and Coulet, Florence and Morrell, Nicholas W. and Trembath, Richard C. (2006) Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. Human Mutation, 27 (2). pp. 121-132. ISSN 1059-7794

Machado, Rajiv D. and Eickelberg, Oliver and Elliott, C. Gregory and Geraci, Mark W. and Hanaoka, Masayuki and Loyd, James E. and Newman, John H. and Phillips, John A. and Soubrier, Florent and Trembath, Richard C. and Chung, Wendy K. (2009) Genetics and genomics of pulmonary arterial hypertension. Journal of the American College of Cardiology, 54 (1 Supp). S32-42. ISSN 0735-1097

Machado, Rajiv D. and James, Victoria and Southwood, Mark and Harrison, Rachel E. and Atkinson, Carl and Stewart, Susan and Morrell, Nicholas W. and Trembath, Richard C. and Aldred, Micheala A. (2005) Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension. Circulation, 111 (5). pp. 607-613. ISSN 0009-7322

Machado, Rajiv D. and Koehler, Rolf and Glissmeyer, Eric and Veal, Colin and Suntharalingam, Jay and Kim, Miryoung and Carlquist, John and Town, Margaret and Elliott, C. Gregory and Hoeper, Marius and Fijalkowska, Anna and Kurzyna, Marcin and Thomson, Jennifer R. and Gibbs, Simon R. and Wilkins, Martin R. and Seeger, Werner and Morrell, Nicholas W. and Gruenig, Ekkehard and Trembath, Richard C. and Janssen, Bart (2006) Genetic association of the serotonin transporter in pulmonary arterial hypertension. American journal of respiratory and critical care medicine, 173 (7). pp. 793-797. ISSN 1535-4970

Machado, Rajiv D. and Pauciulo, M. W. and Thomson, J. R. and Lane, K. B. and Morgan, N. V. and Wheeler, L. and Phillips, J. A. and Newman, J. and Williams, D. and Galiè, N. and Manes, A. and McNeil, K. and Yacoub, M. and Mikhail, G. and Rogers, P. and Corris, P. and Humbert, M. and Donnai, D. and Martensson, G. and Tranebjaerg, L. and Loyd, J. E. and Trembath, R. C. and Nichols, W. C. (2001) BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. American Journal of Human Genetics, 68 (1). pp. 92-102. ISSN 0002-9297

Sankelo, Marja and Flanagan, Julia A. and Machado, Rajiv and Harrison, Rachel and Rudarakanchana, Nung and Morrell, Nicholas and Dixon, Morag and Halme, Maija and Puolijoki, Hannu and Kere, Juha and Elomaa, Outi and Kupari, Markku and Räisänen-Sokolowski, Anne and Trembath, Richard C. and Laitinen, Tarja (2005) BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. Human Mutation, 26 (2). pp. 119-24. ISSN 1059-7794

Soon, Elaine and Holmes, Alan M. and Treacy, Carmen M. and Doughty, Natalie J. and Southgate, Laura and Machado, Rajiv D. and Trembath, Richard C. and Jennings, Simon and Barker, Lucy and Nicklin, Paul and Walker, Christoph and Budd, David C. and Pepke-Zaba, Joanna and Morrell, Nicholas W. (2010) Elevated levels of inflammatory cytokines predict survival in idiopathic and familial pulmonary arterial hypertension. Circulation, 122 (9). pp. 920-927. ISSN 0009-7322

Thomson, J. R. and Machado, Rajiv D. and Pauciulo, M. W. and Morgan, N .V. and Humbert, M. and Elliott, G. C. and Ward, K. and Yacoub, M. and Mikhail, G. and Rogers, P. and Newman, J. and Wheeler, L. and Higenbottam, T. and Gibbs, J. S. and Egan, J. and Crozier, A. and Peacock, A. and Allcock, R. and Corris, P. and Loyd, J. E. and Trembath, R. C. and Nichols, W. C. (2000) Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. Journal of Medical Genetics, 37 (10). pp. 741-745. ISSN 0022-2593

Trembath, R. C. and Thomson, J. R. and Machado, Rajiv D. and Morgan, N. V. and Atkinson, C. and Winship, I. and Simonneau, G. and Galie, N. and Loyd, J. E. and Humbert, M. and Nichols, W .C. and Morrell, N. W. and Berg, J. and Manes, A. and McGaughran, J. and Pauciulo, M. and Wheeler, L. (2001) Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. The New England Journal of Medicine, 345 (5). pp. 325-334. ISSN 0028-4793

Pulmonary hypertension

Harrison, R. E. and Flanagan, J. A. and Sankelo, M. and Abdalla, S. A. and Rowell, J. and Machado, R. D. and Elliott, C. G. and Robbins, I. M. and Olschewski, H. and McLaughlin, V. and Gruenig, E. and Kermeen, F. and Halme, M. and Räisänen-Sokolowski, A. and Laitinen, T. and Morrell, N. W. and Trembath, R. C. (2003) Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. Journal of medical genetics, 40 (12). pp. 865-71. ISSN 0022-2593

Soubrier, Florent and Chung, Wendy K. and Machado, Rajiv and Grunig, Ekkehard and Aldred, Michaela and Geraci, Mark and Loyd, James E. and Elliott, C. Gregory and Trembath, Richard C. and Newman, John H. and Humbert, Marc (2013) Genetics and genomics of pulmonary arterial hypertension. Journal of the American College of Cardiology, 62 (25 SUP). D13-D21. ISSN 0735-1097

Suntharalingam, Jay and Machado, Rajiv D. and Sharples, Linda D. and Toshner, Mark R. and Sheares, Karen K. and Hughes, Rodney J. and Jenkins, David P. and Trembath, Richard C. and Morrell, Nicholas W. and Pepke-Zaba, Joanna (2007) Demographic features, BMPR2 status and outcomes in distal chronic thromboembolic pulmonary hypertension. Thorax, 62 (7). pp. 617-622. ISSN 0040-6376

Thomson, J. and Machado, Rajiv and Pauciulo, M. and Morgan, N. and Yacoub, M. and Corris, P. and McNeil, K. and Loyd, J. and Nichols, W. and Trembath, R. (2001) Familial and sporadic primary pulmonary hypertension is caused by BMPR2 gene mutations resulting in haploinsufficiency of the bone morphogenetic protein type II receptor. Journal of Heart and Lung Transplantation, 20 (2). p. 149. ISSN 1053-2498

Receptors, Thyrotropin

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

Review

Machado, Rajiv D. and Eickelberg, Oliver and Elliott, C. Gregory and Geraci, Mark W. and Hanaoka, Masayuki and Loyd, James E. and Newman, John H. and Phillips, John A. and Soubrier, Florent and Trembath, Richard C. and Chung, Wendy K. (2009) Genetics and genomics of pulmonary arterial hypertension. Journal of the American College of Cardiology, 54 (1 Supp). S32-42. ISSN 0735-1097

Rho GTPases

Southgate, Laura and Machado, Rajiv D. and Snape, Katie M and Primeau, Martin and Dafou, Dimitra and Ruddy, Deborah M and Branney, Peter A and Fisher, Malcolm and Lee, Grace J. and Simpson, Michael A. and He, Yi and Bradshaw, Teisha Y. and Blaumeiser, Bettina and Winship, William S. and Reardon, Willie and Maher, Eamonn R. and FitzPatrick, David R. and Wuyts, Wim and Zenker, Martin and Lamarche-Vane, Nathalie and Trembath, Richard C. (2011) Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. American Journal of Human Genetics, 88 (5). pp. 574-85. ISSN 0002-9297

SERPINA1 protein, human

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

Stroke

Adib-Samii, Poneh and Devan, William and Traylor, Matthew and Lanfranconi, Silvia and Zhang, Cathy R. and Cloonan, Lisa and Falcone, Guido J. and Radmanesh, Farid and Fitzpatrick, Kaitlin and Kanakis, Allison and Rothwell, Peter M. and Sudlow, Cathie and Boncoraglio, Giorgio B. and Meschia, James F. and Levi, Chris and Dichgans, Martin and Bevan, Steve and Rosand, Jonathan and Rost, Natalia S. and Markus, Hugh S. (2015) Genetic architecture of white matter hyperintensities differs in hypertensive and nonhypertensive ischemic stroke. Stroke, 46 (2). pp. 348-353. ISSN 0039-2499

Frayling, Timothy M. and Traylor, Matthew and Mäkelä, Kari-Matti and Kilarski, Laura L. and Holliday, Elizabeth G. and Devan, William J. and Nalls, Mike A. and Wiggins, Kerri L. and Zhao, Wei and Cheng, Yu-Ching and Achterberg, Sefanja and Malik, Rainer and Sudlow, Cathie and Bevan, Steve and Raitoharju, Emma and Oksala, Niku and Thijs, Vincent and Lemmens, Robin and Lindgren, Arne and Slowik, Agnieszka and Maguire, Jane M. and Walters, Matthew and Algra, Ale and Sharma, Pankaj and Attia, John R. and Boncoraglio, Giorgio B. and Rothwell, Peter M. and de Bakker, Paul I. W. and Bis, Joshua C. and Saleheen, Danish and Kittner, Steven J. and Mitchell, Braxton D. and Rosand, Jonathan and Meschia, James F. and Levi, Christopher and Dichgans, Martin and Lehtimäki, Terho and Lewis, Cathryn M. and Markus, Hugh S. (2014) A novel MMP12 locus Is associated with large artery atherosclerotic stroke Using a genome-wide age-at-onset informed approach. PLoS Genetics, 10 (7). e1004469. ISSN 1553-7390

Hanscombe, Ken B. and Traylor, Matthew and Hysi, Pirro G. and Bevan, Stephen and Dichgans, Martin and Rothwell, Peter M. and Worrall, Bradford B. and Seshadri, Sudha and Sudlow, Cathie and Williams, Frances M. K. and Markus, Hugh S. and Lewis, Cathryn M. (2015) Genetic factors influencing coagulation factor XIII B-subunit contribute to risk of ischemic stroke. Stroke, 46 (8). pp. 2069-2074. ISSN 0039-2499

Holliday, Elizabeth G. and Traylor, Matthew and Malik, Rainer and Bevan, Stephen and Maguire, Jane and Koblar, Simon A. and Sturm, Jonathan and Hankey, Graeme J. and Oldmeadow, Christopher and McEvoy, Mark and Sudlow, Cathie and Rothwell, Peter M. and Coresh, Josef and Hamet, Pavel and Tremblay, Johanne and Turner, Stephen T. and de Andrade, Mariza and Rao, Madhumathi and Schmidt, Reinhold and Crick, Peter A. and Robino, Antonietta and Peralta, Carmen A. and Jukema, J. Wouter and Mitchell, Paul and Rosas, Sylvia E. and Wang, Jie Jin and Scott, Rodney J. and Dichgans, Martin and Mitchell, Braxton D. and Kao, W.H. Linda and Fox, Caroline S. and Levi, Christopher and Attia, John and Markus, Hugh S. (2014) Polygenic overlap between kidney function and large artery atherosclerotic stroke. Stroke, 45 (12). pp. 3508-3513. ISSN 0039-2499

Kilarski, L. L. and Achterberg, S. and Devan, W. J. and Traylor, M. and Malik, R. and Lindgren, A. and Pare, G. and Sharma, P. and Slowik, A. and Thijs, V. and Walters, M. and Worrall, B. B. and Sale, M. M. and Algra, A. and Kappelle, L. J. and Wijmenga, C. and Norrving, B. and Sandling, J. K. and Ronnblom, L. and Goris, A. and Franke, A. and Sudlow, C. and Rothwell, P. M. and Levi, C. and Holliday, E. G. and Fornage, M. and Psaty, B. and Gretarsdottir, S. and Thorsteinsdottir, U. and Seshadri, S. and Mitchell, B. D. and Kittner, S. and Clarke, R. and Hopewell, J. C. and Bis, J. C. and Boncoraglio, G. B. and Meschia, J. and Ikram, M. A. and Hansen, B. M. and Montaner, J. and Thorleifsson, G. and Stefanson, K. and Rosand, J. and de Bakker, P. I. W. and Farrall, M. and Dichgans, M. and Markus, H. S. and Bevan, S. (2014) Meta-analysis in more than 17,900 cases of ischemic stroke reveals a novel association at 12q24.12. Neurology, 83 (8). pp. 678-685. ISSN 0028-3878

Markus, Hugh S. and Bevan, Steve (2014) Mechanisms and treatment of ischaemic stroke: insights from genetic associations. Nature Reviews Neurology, 10 (12). pp. 723-730. ISSN 1759-4758

Traylor, Matthew and Rutten-Jacobs, Loes C. A. and Holliday, Elizabeth G. and Malik, Rainer and Sudlow, Cathie and Rothwell, Peter M. and Maguire, Jane M. and Koblar, Simon A. and Bevan, Steve and Boncoraglio, Giorgio and Dichgans, Martin and Levi, Chris and Lewis, Cathryn M. and Markus, Hugh S. (2015) Differences in common genetic predisposition to ischemic stroke by age and sex. Stroke: a journal of cerebral circulation, 46 (11). pp. 3042-7. ISSN 0039-2499

Transplantation

Hamilton, A. and Mittal, S. and Barnardo, M. C .N. M. and Fuggle, S. V. and Friend, P. and Gough, S. C. L. and Simmonds, M. (2015) Genetic variation in Caveolin-1 correlates with long-term pancreas transplant outcome. American Journal of Transplantation . ISSN 1600-6143

Simmonds, M. J. (2015) Utilizing genetic variation to predict and extend long-term kidney transplant function. Transplantation, 99 (10). pp. 2038-2048. ISSN 0041-1337

Tumor Necrosis Factor-alpha

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

Type 1 diabetes

Hamilton, A. and Mittal, S. and Barnardo, M. C .N. M. and Fuggle, S. V. and Friend, P. and Gough, S. C. L. and Simmonds, M. (2015) Genetic variation in Caveolin-1 correlates with long-term pancreas transplant outcome. American Journal of Transplantation . ISSN 1600-6143

United Kingdom, Asian Continental Ancestry Group

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

Uteroglobin

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

Vital Capacity

Wood, Alice M. and Needham, Michelle and Simmonds, Matthew J. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2009) Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation. COPD: Journal of Chronic Obstructive Pulmonary Disease, 5 (6). pp. 353-359. ISSN 1541-2555

Vitamin D-Binding Protein

Wood, Alice M. and Needham, Michelle and Simmonds, Matthew J. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2009) Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation. COPD: Journal of Chronic Obstructive Pulmonary Disease, 5 (6). pp. 353-359. ISSN 1541-2555

World Symposium

Machado, Rajiv D. and Eickelberg, Oliver and Elliott, C. Gregory and Geraci, Mark W. and Hanaoka, Masayuki and Loyd, James E. and Newman, John H. and Phillips, John A. and Soubrier, Florent and Trembath, Richard C. and Chung, Wendy K. (2009) Genetics and genomics of pulmonary arterial hypertension. Journal of the American College of Cardiology, 54 (1 Supp). S32-42. ISSN 0735-1097

X chromosome

Simmonds, M. J. and Kavvoura, F. K. and Brand, O. J. and Newby, P. R. and Jackson, L. E. and Hargreaves, C. E. and Franklyn, J. A. and Gough, S. C. L. (2014) Skewed X chromosome inactivation and female preponderance in autoimmune thyroid disease: an association study and meta-analysis. Journal of Clinical Endocrinology and Metabolism, 99 (1). ISSN 0021-972X

alpha 1 antitrypsin

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

alpha 1 antitrypsin deficiency

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

alpha 1-Antitrypsin

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

alpha 1-Antitrypsin Deficiency

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

amniocentesis

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

article

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

Wood, Alice M. and Needham, Michelle and Simmonds, Matthew J. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2009) Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation. COPD: Journal of Chronic Obstructive Pulmonary Disease, 5 (6). pp. 353-359. ISSN 1541-2555

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

blood

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

case control study

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

chromosome 5q

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

chronic bronchitis

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

chronic kidney failure

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

chronic obstructive lung disease

Wood, Alice M. and Needham, Michelle and Simmonds, Matthew J. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2009) Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation. COPD: Journal of Chronic Obstructive Pulmonary Disease, 5 (6). pp. 353-359. ISSN 1541-2555

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

cohort analysis

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

controlled study

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

data base

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

disease association

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

disease severity

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

endocrine ophthalmopathy

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

epigenetics

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

ethnology

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

eukoaraiosis

Opherk, C. and Gonik, M. and Duering, M. and Malik, R. and Jouvent, E. and Herve, D. and Adib-Samii, P. and Bevan, S. and Pianese, L. and Silvestri, S. and Dotti, M. T. and De Stefano, N. and Liem, M. and Boon, E. M. J. and Pescini, F. and Pachai, C. and Bracoud, L. and Muller-Myhsok, B. and Meitinger, T. and Rost, N. and Pantoni, L. and Lesnik Oberstein, S. and Federico, A. and Ragno, M. and Markus, H. S. and Tournier-Lasserve, E. and Rosand, J. and Chabriat, H. and Dichgans, M. (2014) Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL. Stroke, 45 (4). pp. 968-972. ISSN 0039-2499

female

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

fetus development

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

forced expiratory volume

Wood, Alice M. and Needham, Michelle and Simmonds, Matthew J. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2009) Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation. COPD: Journal of Chronic Obstructive Pulmonary Disease, 5 (6). pp. 353-359. ISSN 1541-2555

gene

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

gene expression

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

gene expression regulation

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

gene replication

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

genetic linkage

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

genetic polymorphism

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

genetic predisposition

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

genetic variability

Wood, Alice M. and Needham, Michelle and Simmonds, Matthew J. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2009) Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation. COPD: Journal of Chronic Obstructive Pulmonary Disease, 5 (6). pp. 353-359. ISSN 1541-2555

genetics

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Wood, Alice M. and Needham, Michelle and Simmonds, Matthew J. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2009) Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation. COPD: Journal of Chronic Obstructive Pulmonary Disease, 5 (6). pp. 353-359. ISSN 1541-2555

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

genotype

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

glucocorticoid

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

graves disease

Simmonds, M. J. and Kavvoura, F. K. and Brand, O. J. and Newby, P. R. and Jackson, L. E. and Hargreaves, C. E. and Franklyn, J. A. and Gough, S. C. L. (2014) Skewed X chromosome inactivation and female preponderance in autoimmune thyroid disease: an association study and meta-analysis. Journal of Clinical Endocrinology and Metabolism, 99 (1). ISSN 0021-972X

human

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

Wood, Alice M. and Needham, Michelle and Simmonds, Matthew J. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2009) Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation. COPD: Journal of Chronic Obstructive Pulmonary Disease, 5 (6). pp. 353-359. ISSN 1541-2555

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

interleukin 1 receptor blocking agent

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

interleukin 10

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

interleukin 1alpha

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

interleukin 1beta

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

interleukin 3, article

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

interleukin 6

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

interleukin derivative, adult

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

intrauterine growth retardation

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

low birth weight

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

lung emphysema

Wood, Alice M. and Needham, Michelle and Simmonds, Matthew J. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2009) Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation. COPD: Journal of Chronic Obstructive Pulmonary Disease, 5 (6). pp. 353-359. ISSN 1541-2555

major clinical study

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

male

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

messenger RNA

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

metabolic disorder

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

metabolism

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

middle aged

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

neurologic disease

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

nonhuman

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

nucleotide sequence

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

pathophysiology

Wood, Alice M. and Needham, Michelle and Simmonds, Matthew J. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2009) Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation. COPD: Journal of Chronic Obstructive Pulmonary Disease, 5 (6). pp. 353-359. ISSN 1541-2555

phenotype

Wood, Alice M. and Needham, Michelle and Simmonds, Matthew J. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2009) Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation. COPD: Journal of Chronic Obstructive Pulmonary Disease, 5 (6). pp. 353-359. ISSN 1541-2555

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

pregnancy outcome

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

premature labor

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

prenatal exposure

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

prenatal stress

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

priority journal

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

promoter region

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

protein interaction

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

protein microarray

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

protein subunit

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

protein tyrosine phosphatase

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

rat

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

review

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

risk assessment

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

single nucleotide polymorphism

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

Wood, Alice M. and Needham, Michelle and Simmonds, Matthew J. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2009) Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation. COPD: Journal of Chronic Obstructive Pulmonary Disease, 5 (6). pp. 353-359. ISSN 1541-2555

single nucleotide polymorphism, Adult

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

statistics, Case-Control Studies

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

surfactant protein B

Wood, Alice M. and Needham, Michelle and Simmonds, Matthew J. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2009) Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation. COPD: Journal of Chronic Obstructive Pulmonary Disease, 5 (6). pp. 353-359. ISSN 1541-2555

thyrotropin receptor antibody, allele

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

transforming growth factor beta

Wood, Alice M. and Needham, Michelle and Simmonds, Matthew J. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2009) Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation. COPD: Journal of Chronic Obstructive Pulmonary Disease, 5 (6). pp. 353-359. ISSN 1541-2555

tumor necrosis factor alpha, adrenal cortex atrophy

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

tumor necrosis factor alpha, adult

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

vital capacity, alpha 1-Antitrypsin Deficiency

Wood, Alice M. and Needham, Michelle and Simmonds, Matthew J. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2009) Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation. COPD: Journal of Chronic Obstructive Pulmonary Disease, 5 (6). pp. 353-359. ISSN 1541-2555

vitamin D binding protein, alpha 1 antitrypsin deficiency

Wood, Alice M. and Needham, Michelle and Simmonds, Matthew J. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2009) Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation. COPD: Journal of Chronic Obstructive Pulmonary Disease, 5 (6). pp. 353-359. ISSN 1541-2555

This list was generated on Sat Jun 25 09:37:27 2016 BST.