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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

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

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

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

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 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

Genetics

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

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

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

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

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

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

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

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

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 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 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

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

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

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

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

female

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

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

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

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

human

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 1beta

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

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

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

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

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

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

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

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

This list was generated on Wed Aug 27 15:30:44 2014 BST.