Drugs: endocrine system

Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-β family
Jennifer R Thomson, Rajiv D Machado, Michael W Pauciulo, Neil V Morgan, Marc Humbert, Greg C Elliott, Ken Ward, Magdi Yacoub, Ghada Mikhail, Paula Rogers, John Newman, Lisa Wheeler, Timothy Higenbottam, J Simon R Gibbs, Jim Egan, Agnes Crozier, Andrew Peacock, Robert Allcock, Paul Corris, James E Loyd, Richard C Trembath, William C Nichols

Journal of Medical Genetics Oct 2000, 37 (10) 741-745; DOI: 10.1136/jmg.37.10.741
Evidence for a gene influencing haematocrit on chromosome 6q23–24: genomewide scan in the Framingham Heart Study
J-P Lin, C J O’Donnell, D Levy, L A Cupples

Journal of Medical Genetics Jan 2005, 42 (1) 75-79; DOI: 10.1136/jmg.2004.021097
Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type
G Nishimura, E Nakashima, A Mabuchi, K Shimamoto, T Shimamoto, Y Shimao, T Nagai, T Yamaguchi, R Kosaki, H Ohashi, Y Makita, S Ikegawa

Journal of Medical Genetics Jan 2004, 41 (1) 75-79; DOI: 10.1136/jmg.2003.013722
Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis
S Schindler, M Friedrich, H Wagener, B Lorenz, M N Preising

Journal of Medical Genetics Oct 2002, 39 (10) 764-766; DOI: 10.1136/jmg.39.10.764
Opposite effects of interleukin 10 common gene polymorphisms in cardiovascular diseases and in successful ageing: genetic background of male centenarians is protective against coronary heart disease
D Lio, G Candore, A Crivello, L Scola, G Colonna-Romano, L Cavallone, E Hoffmann, M Caruso, F Licastro, C M Caldarera, A Branzi, C Franceschi, C Caruso

Journal of Medical Genetics Oct 2004, 41 (10) 790-794; DOI: 10.1136/jmg.2004.019885
SMAD4 mutations found in unselected HHT patients
C J Gallione, J A Richards, T G W Letteboer, D Rushlow, N L Prigoda, T P Leedom, A Ganguly, A Castells, J K Ploos van Amstel, C J J Westermann, R E Pyeritz, D A Marchuk

Journal of Medical Genetics Oct 2006, 43 (10) 793-797; DOI: 10.1136/jmg.2006.041517
Genome-wide association study of sex hormones, gonadotropins and sex hormone–binding protein in Chinese men
Zhuo Chen, Sha Tao, Yong Gao, Ju Zhang, Yanling Hu, Linjian Mo, Seong-Tae Kim, Xiaobo Yang, Aihua Tan, Haiying Zhang, Xue Qin, Li Li, Yongming Wu, Shijun Zhang, S Lilly Zheng, Jianfeng Xu, Zengnan Mo, Jielin Sun

Journal of Medical Genetics Dec 2013, 50 (12) 794-801; DOI: 10.1136/jmedgenet-2013-101705
The oestrogen receptor α gene is linked and/or associated with age of menarche in different ethnic groups
J-R Long, H Xu, L-J Zhao, P-Y Liu, H Shen, Y-J Liu, D-H Xiong, P Xiao, Y-Z Liu, V Dvornyk, J-L Li, R R Recker, H-W Deng

Journal of Medical Genetics Oct 2005, 42 (10) 796-800; DOI: 10.1136/jmg.2004.028381
Genetic susceptibility to non-polyposis colorectal cancer
Henry T Lynch, Albert de la Chapelle

Journal of Medical Genetics Nov 1999, 36 (11) 801-818; DOI: 10.1136/jmg.36.11.801
Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation
K Osoegawa, G M Vessere, K H Utami, M A Mansilla, M K Johnson, B M Riley, J L’Heureux, R Pfundt, J Staaf, W A van der Vliet, A C Lidral, E F P M Schoenmakers, A Borg, B C Schutte, E J Lammer, J C Murray, P J de Jong

Journal of Medical Genetics Feb 2008, 45 (2) 81-86; DOI: 10.1136/jmg.2007.052191

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