Items where Subject is "C Biological Sciences > C420 Human Genetics"

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Number of items at this level: 48.

A

Ali, Nadir and Coulson-Thomas, Yvette M. and Dixon, Ronald A. and Williams, D. Ross (2014) Genetic variation comparison of 15 autosomal STR loci in an immigrant population living in the UK (British Pakistanis) with an ancestral origin population from Pakistan. Forensic Science International: Genetics, 9 . e10-e12. ISSN 1872-4973

Ali, Nadir and Coulson-Thomas, Yvette M. and Norton, Andrew L. and Dixon, Ronald A. and Williams, D. Ross (2013) Announcement of population data: genetic data for 17 Y-STR AmpFℓSTR® Yfiler™ markers from an immigrant Pakistani population in the UK (British Pakistanis). Forensic Science International: Genetics, 7 (2). e40-e42. ISSN 1872-4973

B

Boelaert, Kristien and Newby, Paul R. and Simmonds, Matthew J. and Holder, Roger L. and Carr-Smith, Jacqueline D. and Heward, Joanne M. and Manji, Nilusha and Allahabadia, Amit and Armitage, Mary and Chatterjee, Krishna V. and Lazarus, John H. and Pearce, Simon H. and Vaidya, Bijay and Gough, Stephen C. and Franklyn, Jayne A. (2010) Prevalence and relative risk of other autoimmune diseases in subjects with autoimmune thyroid disease. American Journal of Medicine, 123 (2). 183.e1-183.e9. ISSN 0002-9343

Brand, O. J. and Barrett, J. C. and Simmonds, M. J. and Newby, P. R. and McCabe, C. J. and Bruce, C. K. and Kysela, B. and Carr-Smith, J. D. and Brix, T. and Hunt, P. J. and Wiersinga, W. M. and Hegedus, L. and Connell, J. and Wass, J. A. H. and Franklyn, J. A. and Weetman, A. P. and Heward, J. M. and Gough, S. C. L. (2009) Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease. Human Molecular Genetics, 18 (9). pp. 1704-1713. ISSN 0964-6906

C

Chand, S. and Chue, C. D. and Edwards, N. C. and Hodson, J. and Simmonds, M. J. and Hamilton, A. and Gough, S. C. L. and Harper, L. and Steeds, R. P. and Townend, J. N. and Ferro, C. J. and Borrows, R. (2015) Endothelial nitric oxide synthase single nucleotide polymorphism and left ventricular function in early chronic kidney disease. PLoS ONE, 10 (1). ISSN 1932-6203

Chand, S. and Holle, J. U. and Hilhorst, M. and Simmonds, M. J. and Smith, S. and Kamesh, L. and Hewins, P. and McKnight, A. J. and Maxwell, A. P. and Willem Cohen Tervaert, J. and Wieczorek, S. and Harper, L. and Borrows, R. (2013) Caveolin-1 single nucleotide polymorphism in antineutrophil cytoplasmic antibody associated vasculitis. PLoS ONE, 8 (7). ISSN 1932-6203

Cooper, J. D. and Simmonds, M. J. and Walker, N.M. and Burren, O. and Brand, O.J. and Guo, H. and Wallace, C. and Stevens, H. and Coleman, G and Franklyn, J.A. and Todd, J.A. and Gough, S.C.L. (2012) Seven newly identified loci for autoimmune thyroid disease. Human Molecular Genetics, 21 (23). pp. 5202-5208. ISSN 0964-6906

D

Davy, Zowie (2012) Differences in sexual development: towards a phenomenological understanding of gender variance. In: Controversies and Confrontations: Violence and Agency, 6-7 December 2012, University of Vienna, Austria.

E

Elmrghni, Samir and Shaw, Michael and Ali, Nadir and Dixon, Ron and Ross Williams, D. (2012) Aberrations of human gender identification by amelogenin test in Libyans (Benghazi city). Indian Journal of Forensic Medicine and Toxicology, 6 (2). pp. 163-166. ISSN 0973-9122

G

Gough, S .C. L. and Simmonds, Matthew J. (2007) The HLA region and autoimmune disease: associations and mechanisms of action. Current Genomics, 8 (7). pp. 453-465. ISSN 1389-2029

H

Hafler, J. P. and Maier, L. M. and Cooper, J. D. and Plagnol, V. and Hinks, A. and Simmonds, M. J. and Stevens, H. and Walker, N. and Healy, B. and Howson, J. M. M. and Maisuria, M. and Duley, S. and Coleman, G. and Gough, S. C. L. and Worthington, J. and Kuchroo, V. K. and Wicker, L. S. and Todd, J. A. and IMSGC, . (2009) CD226 Gly307Ser association with multiple autoimmune diseases. Genes and Immunity, 10 (1). pp. 5-10. ISSN 1466-4879

Hamilton, Alexander and Gough, Stephen C. L. and Simmonds, Matthew J. (2013) Genetics of Graves’ disease. In: eLS - Encyclopedia of Life Sciences. Wiley. ISBN 9780470015902

Herr, Patrick and Lundin, Cecilia and Evers, Bastiaan and Ebner, Daniel and Bauerschmidt, Christina and Kingham, Guy and Palmai-Pallag, Timea and Mortusewicz, Oliver and Frings, Oliver and Sonnhammer, Erik and Helleday, Thomas (2015) A genome-wide IR-induced RAD51 foci RNAi screen identifies CDC73 involved in chromatin remodeling for DNA repair. Cell Discovery . p. 15034. ISSN 2056-5968

Heward, J. M. and Simmonds, M. J. and Carr-Smith, J. and Foxall, H. and Franklyn, J. A. and Gough, S. C. L. (2004) A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2) provides no evidence for susceptibility to Graves' disease in UK Caucasians. Clinical Endocrinology, 61 (2). pp. 269-272. ISSN 0300-0664

Hudson, John (2011) All watched over by machines of loving grace: part 3 "The monkey in the machine and the machine in the monkey". Digital Imaging and Photography . ISSN UNSPECIFIED

Hunt, K. A. and Mistry, V. and Bockett, N. A. and Ahmad, T. and Ban, M. and Barker, J. N. and Barrett, J. C. and Blackburn, H. and Brand, O. J. and Burren, O. and Capon, F. and Compston, A. and Gough, S. C. L. and Jostins, L. and Kong, Y. and Lee, J. C. and Lek, M. and MacArthur, D. G. and Mansfield, J. C. and Mathew, C. G. and Mein, C. A. and Mirza, M. and Nutland, S. and Onengut-Gumuscu, S. and Papouli, E. and Parkes, M. and Rich, S. S. and Sawcer, S. and Satsangi, J. and Simmonds, M. J. and Trembath, R. C. and Walker, N. M. and Wozniak, E. and Todd, J. A. and Simpson, M. A. and Plagnol, V. and van Heel, D. A. (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 498 (7453). pp. 232-235. ISSN 0028-0836

Hunt, K. A. and Smyth, D. J. and Balschun, T. and Ban, M. and Mistry, V. and Ahmed, T. and Barrett, J. C. and Bhaw-Rosun, L. and Bockett, N. A. and Brand, O. J. and Brouwer, E. and Concannon, P. and Cooper, J. D. and Dias, K-R. M. and van Diemen, C. C. and Dubois, P.C. and Edkins, S. and Fölster-Holst, R. and Fransen, K. and Glass, D. N. and Heap, G. A. R. and Hofmann, S. and Huizinga, T. W. J. and Hunt, S. and Langford, C. and Lee, J. and Mansfield, J. and Giovanna Marrosu, M. and Mathew, C. G. and Mein, C.A. and Müller-Quernheim, J. and Nutland, S. and Onengut-Gumuscu, S. and Ouwehand, W. and Pearce, K. and Prescott, N. and Posthumus, M. D. and Potter, S. and Rosati, G. and Sambrook, J. and Satsangi, J. and Schreiber, S. and Shtir, C. and Simmonds, M. J. and Sudman, M. and Thompson, S. D. and Toes, R. and Trynka, G. and Vyse, T. J. and Walker, N. M. and Weidinger, S. and Zhernakova, A. and Zoledziewska, M. and Weersma, R.K. and Gough, S.C.L. and Sawcer, S. and Wijmenga, C. and Parkes, M. and Cucca, F. and Franke, A. and Deloukas, P. and Rich, S. S. and Todd, J. A. and van Heel, D. A. (2011) Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. Nature Genetics, 44 (1). pp. 3-5. ISSN 10614036

K

Kilarski, Laura L. and Rutten-Jacobs, Loes C. A. and Bevan, Stephen and Baker, Rob and Hassan, Ahamad and Hughes, Derralynn A. and Markus, Hugh S. (2015) Prevalence of CADASIL and Fabry disease in a cohort of MRI defined younger onset lacunar stroke. PloS one, 10 (8). e0136352. ISSN 1932-6203

L

Langlois, Adele (2006) The governance of genomic information: will it come of age? Genomics, Society and Policy, 2 (3). pp. 49-63. ISSN UNSPECIFIED

M

Medici, M. and Porcu, E. and Pistis, G. and Teumer, A. and Brown, S. J. and Jensen, R. A. and Rawal, R. and Roef, G. L. and Plantinga, T. S. and Vermeulen, S. H. and Lahti, J. and Simmonds, M. J. and Husemoen, L. N. N. and Freathy, R. M. and Shields, B. M. and Pietzner, D. and Nagy, R. and Broer, L. and Chaker, L. and Korevaar, T. I. M. and Plia, M. G. and Sala, C. and Volker, U. and Richards, J. B. and Sweep, F. C. and Gieger, C. and Corre, T. and Kajantie, E. and Thuesen, B. and Taes, Y. E. and Visser, W. E. and Hattersley, A. T. and Kratzsch, J. and Hamilton, A. and Li, W. and Homuth, G. and Lobina, M. and Mariotti, S. and Soranzo, N. and Cocca, M. and Nauck, M. and Spielhagen, C. and Ross, A. and Arnold, A. and van de Bunt, M. and Liyanarachchi, S. and Heier, M. and Grabe, H. J. and Masciullo, C. and Galesloot, T. E. and Lim, E. M. and Reischl, E. and Leedman, P. J. and Lai, S. and Delitala, A. and Bremner, A. P. and Philips, D. I. W. and Beilby, J. P. and Mulas, A. and Vocale, M. and Abecasis, G. and Forsen, T. and James, A. and Widen, E. and Hui, J. and Prokisch, H. and Rietzschel, E. E. and Palotie, A. and Feddema, P. and Fletcher, S. J. and Schramm, K. and Rotter, J. I. and Kluttig, A. and Radke, D. and Traglia, M. and Surdulescu, G. L. and He, H. and Franklyn, J. A. and Tiller, D. and Vaidya, B. and de Meyer, T. and Jørgensen, T. and Eriksson, J. G. and O’Leary, P. C. and Wichmann, E. and Hermus, A. R. and Psaty, B. M. and Ittermann, T. and Hofman, A. and Bosi, E. and Schlessinger, D. and Wallaschofski, H. and Pirastu, N. and Aulchenko, Y.S. and de la Chapelle, A. and Netea-Maier, R.T. and Gough, S.C.L. and Meyer zu Schwabedissen, H. and Frayling, T.M. and Kaufman, J.M. and Linneberg, A. and Raikkonen, K. and Smit, J.W.A. and Kiemeney, L.A. and Rivadeneira, F. and Uitterlinden, A.G. and Walsh, J.P. and Meisinger, C. and den Heijer, M. and Visser, T.J. and Spector, T.D. and Wilson, S.G. and Volzke, H. and Cappola, A. and Toniolo, D. and Sanna, S. and Naitza, S. and Peeters, R.P. (2014) Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genetics, 10 (2). ISSN 15537390

Moore, J. and McKnight, A.J. and Simmonds, M. J. and Courtney, A. E. and Hanvesakul, R. and Brand, O. J. and Briggs, D. and Ball, S. and Cockwell, P. and Patterson, C.C. and Maxwell, A. P. and Gough, S. C. L. and Borrows, R. (2010) Association of caveolin-1 gene polymorphism with kidney transplant fibrosis and allograft failure. JAMA - Journal of the American Medical Association, 303 (13). pp. 1282-1287. ISSN 0098-7484

Moore, Jason and McKnight, Amy Jayne and Döhler, Bernd and Simmonds, Matthew J. and Courtney, Aisling E. and Brand, Oliver J. and Briggs, David and Ball, Simon and Cockwell, Paul and Patterson, Christopher C. and Maxwell, Alexander P. and Gough, Stephen C. L. and Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

N

Newby, P. R. and Roberts-Davies, E. L. and Brand, O. J. and Heward, J. M. and Franklyn, J. A. and Gough, S. C. L. and Simmonds, M. J. (2007) Tag SNP screening of the PDCD1 gene for association with Graves' disease. Clinical Endocrinology, 67 (1). pp. 125-128. ISSN 0300-0664

Newby, Paul R. and Pickles, Oliver J. and Mazumdar, Samaresh and Brand, Oliver J. and Carr-Smith, Jacqueline D. and Pearce, Simon H. S. and Franklyn, Jayne A. and Evans, David M. and Simmonds, Matthew J. and Gough, Stephen C. L. and Welcome Trust Case-Control Consortium (WTCCC), . (2010) Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. European Journal of Human Genetics, 18 (9). pp. 1021-1026. ISSN 1018-4813

Nielsen, Christian F. and Huttner, Diana and Bizard, Anna H. and Hirano, Seiki and Li, Tian-Neng and Palmai-Pallag, Timea and Bjerregaard, Victoria A. and Liu, Ying and Nigg, Erich A. and Wang, Lily Hui-Ching and Hickson, Ian D. (2015) PICH promotes sister chromatid disjunction and co-operates with topoisomerase II in mitosis. Nature Communications, 6 . p. 8962. ISSN 2041-1723

P

Plagnol, Vincent and Howson, Joanna M. M. and Smyth, Deborah J. and Walker, Neil and Hafler, Jason P. and Wallace, Chris and Stevens, Helen and Jackson, Laura and Simmonds, Matthew J. and T1D Genetics Consortium, - and Bingley, Polly J. and Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

S

Simmonds, M. J. and Gough, S. C. L. (2004) Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond. Clinical and Experimental Immunology, 136 (1). pp. 1-10. ISSN 0009-9104

Simmonds, M. J. and Heward, J. M. and Barrett, J. C. and Franklyn, J. A. and Gough, S. C. L. (2006) Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74. Clinical Endocrinology, 65 (4). pp. 429-432. ISSN 0300-0664

Simmonds, M. J. and Heward, J. M. and Franklyn, J. A. and Gough, S. C. L. (2005) The CD40 Kozak SNP: a new susceptibility loci for Graves' disease? Clinical Endocrinology, 63 (2). pp. 232-233. ISSN 0300 0664

Simmonds, M. J. and Heward, J. M. and Franklyn, J. A. and Gough, S. C. L. (2005) IL-13 and chromosome 5q31-q33: problems of identifying association within regions of linkage to Graves' disease. Clinical Endocrinology, 63 (6). pp. 695-697. ISSN 0300-0664

Simmonds, M. J. and Heward, J.M. and Howson, J.M.M. and Foxall, H. and Nithiyananthan, R. and Franklyn, J.A. and Gough, S.C.L. (2004) A systematic approach to the assesment of known TNF-alpha polymorphisms in Graves' disease. Genes and Immunity, 5 (4). pp. 267-273. ISSN 1466-4879

Simmonds, M. J. and Howson, J. M. M. and Heward, J. M. and Carr-Smith, J. and Franklyn, J. A. and Todd, J. A. and Gough, S. C. L. (2007) A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect. Human Molecular Genetics, 16 (18). pp. 2149-2153. ISSN 0964-6906

Simmonds, Matthew and Gough, S. C. L. (2005) Genetic insights into disease mechanisms of autoimmunity. British Medical Bulletin, 71 (1). pp. 93-113. ISSN 0007-1420

Simmonds, Matthew J. (2013) GWAS in autoimmune thyroid disease: redefining our understanding of pathogenesis. Nature Reviews Endocrinology, 9 (5). pp. 277-287. ISSN 1759-5029

Simmonds, Matthew J. and Benavente, David and Brand, Oliver J. and Moore, Jason and Ball, Simon and Ferro, Charles J. and Briggs, David and Gough, Stephen C. L. and Borrows, Richard J. (2013) Skewing of female X-chromosome inactivation: an epigenetic risk factor for kidney transplantation outcome. Transplantation, 95 (5). e25-e28. ISSN 0041-1337

Simmonds, Matthew J. and Brand, Oliver J. and Barrett, Jeffrey C. and Newby, Paul R. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Association of Fc receptor-like 5 (FCRL5) with Graves' disease is secondary to the effect of FCRL3. Clinical Endocrinology, 73 (5). pp. 654-660. ISSN 0300-0664

Simmonds, Matthew J. and Gough, Stephen C. L. (2011) The search for the genetic contribution to autoimmune thyroid disease: The never ending story? Briefings in Functional Genomics, 10 (2). pp. 77-90. ISSN 2041-2649

Simmonds, Matthew J. and Heward, J. M. and Carr-Smith, J. and Foxall, H. and Franklyn, J. A. and Gough, S. C. L. (2006) Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease. Journal of Clinical Endocrinology and Metabolism, 91 (3). pp. 1056-1061. ISSN 0021-972X

Simmonds, Matthew J. and Heward, Joanne M. and Kelly, M. Ann and Allahabadia, Amit and Foxall, Helen and Gordon, Caroline and Franklyn, Jayne A. and Gough, Stephen C. L. (2002) A nonsense mutation in exon 2 of the DNase I gene is not present in UK subjects with systemic lupus erythematosus and Graves' disease: Comment on the article by Rood et al. Arthritis and Rheumatism, 46 (11). pp. 3109-3110. ISSN 0004-3591

Simmonds, Matthew J. and Howson, Joanna M. M. and Heward, Joanne M. and Cordell, Heather J. and Foxall, Helen and Carr-Smith, Jackie and Gibson, Sarah M. and Walker, Neil and Tomer, Yaron and Franklyn, Jayne A. and Todd, John A. and Gough, Stephen C. L. (2005) Regression mapping of association between the human leukocyte antigen region and Graves' disease. American Journal of Human Genetics, 76 (1). pp. 157-163. ISSN 0002-9297

Southgate, Laura and Sukalo, Maja and Karountzos, Anastasios S. V. and Taylor, Edward J. and Collinson, Claire S. and Ruddy, Deborah and Snape, Katie M. and Dallapiccola, Bruno and Tolmie, John L. and Joss, Shelagh and Brancati, Francesco and Digilio, M. Cristina and Graul-Neumann, Luitgard M. and Salviati, Leonardo and Coerdt, Wiltrud and Jacquemin, Emmanuel and Wuyts, Wim and Zenker, Martin and Machado, Rajiv D. and Trembath, Richard C. (2015) Haploinsufficiency of the NOTCH1 receptor as a cause of Adams-Oliver Syndrome with variable cardiac anomalies. Circulation: Cardiovascular genetics, 8 (4). ISSN 1942-325X

T

Todd, J. A. and Walker, N. M. and Cooper, J. D. and Smyth, D. J. and Downes, K. and Plagnol, V. and Bailey, R. and Nejentsev, S. and Field, S. F. and Payne, F. and Lowe, C. E. and Szeszko, J. S. and Hafler, J. P. and Zeitels, L. and Yang, J. H. M. and Vella, A. and Nutland, S. and Stevens, H. E. and Schuilenburg, H. and Coleman, G. and Maisuria, M. and Meadows, W. and Smink, L. J. and Healy, B. and Burren, O. S. and Lam, A. A. C. and Ovington, N. R. and Allen, J. and Adlem, E. and Leung, H-T. and Wallace, C. and Howson, J. M. M. and Guja, C. and Ionescu-Tırgoviste, C. and Genetics of T1D in Finland, . and Simmonds, M. J. and Heward, J. M. and Gough, S. C. L. and WTCCC, . and Dunger, D. B. and Wicker, L. S. and Clayton, D. G. (2007) Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nature Genetics, 39 (7). pp. 857-864. ISSN 1061-4036

Traylor, Matthew and Bevan, Stephen and Baron, Jean-Claude and Hassan, Ahamad and Lewis, Cathryn M. and Markus, Hugh S. (2015) Genetic architecture of lacunar stroke. Stroke; a journal of cerebral circulation, 46 (9). pp. 2407-2412. ISSN 0039-2499

X

Xing, Meichun and Wang, Xiaohui and Palmai-Pallag, Timea and Shen, Huahao and Helleday, Thomas and Hickson, Ian D. and Ying, Songmin (2015) Acute MUS81 depletion leads to replication fork slowing and a constitutive DNA damage response. Oncotarget, 6 (35). pp. 37638-37646. ISSN 1949-2553

Y

Yesmin, K. and Hargreaves, C. and Newby, P. R. and Brand, O. J. and Heward, J. M. and Franklyn, J. A. and Gough, S. C. L. and Simmonds, M. J. (2010) Association of FcGRIIa with Graves' disease: a potential role for dysregulated autoantibody clearance in disease onset/progression. Clinical Endocrinology, 73 (1). pp. 119-125. ISSN 0300-0664

Z

Zeitlin, A. and Simmonds, M. J. and Gough, S. C. (2008) Genetic developments in autoimmune thyroid disease: an evolutionary process. Clinical Endocrinology, 68 (5). pp. 671-682. ISSN 0300-0664

Zeitlin, A. A. and Heward, J. M. and Brand, O. J. and Newby, P. R. and Franklyn, J. A. and Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

Zeitlin, A. A. and Heward, J. M. and Newby, P. R. and Carr-Smith, J. D. and Franklyn, J. A. and Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

This list was generated on Wed May 25 19:38:59 2016 BST.