Drugs: endocrine system

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia
B Pérez, F Mechinaud, C Galambrun, N Ben Romdhane, B Isidor, N Philip, J Derain-Court, B Cassinat, J Lachenaud, S Kaltenbach, A Salmon, C Désirée, S Pereira, M L Menot, N Royer, O Fenneteau, A Baruchel, C Chomienne, A Verloes, H Cavé

Journal of Medical Genetics Oct 2010, 47 (10) 686-691; DOI: 10.1136/jmg.2010.076836
Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema
A L Evans, R Bell, G Brice, P Comeglio, C Lipede, S Jeffery, P Mortimer, M Sarfarazi, A H Child

Journal of Medical Genetics Sep 2003, 40 (9) 697-703; DOI: 10.1136/jmg.40.9.697
Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease
Joakim Klar, Peter Blomstrand, Charlott Brunmark, Jitendra Badhai, Hanna Falk Håkansson, Charlotte Sollie Brange, Birgitta Bergendal, Niklas Dahl

Journal of Medical Genetics Oct 2011, 48 (10) 705-709; DOI: 10.1136/jmedgenet-2011-100166
Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant
G H de Bock, M Schutte, E M M Krol-Warmerdam, C Seynaeve, J Blom, C T M Brekelmans, H Meijers-Heijboer, C J van Asperen, C J Cornelisse, P Devilee, R A E M Tollenaar, J G M Klijn

Journal of Medical Genetics Oct 2004, 41 (10) 731-735; DOI: 10.1136/jmg.2004.019737
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
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
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
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

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