Drugs: endocrine system

A significant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer
P O Chappuis, J Goffin, N Wong, C Perret, P Ghadirian, P N Tonin, W D Foulkes

Journal of Medical Genetics Aug 2002, 39 (8) 608-610; DOI: 10.1136/jmg.39.8.608
A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12–8q12.1
P N Valdmanis, A A Simões Lopes, F Gros-Louis, J D Stewart, G A Rouleau, N Dupré

Journal of Medical Genetics Aug 2004, 41 (8) 634-639; DOI: 10.1136/jmg.2004.019711
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain
G McGillivray, R Savarirayan, T C Cox, C Stojkoski, R McNeil, A Bankier, J F Bateman, T Roscioli, R J M Gardner, S R Lamandé

Journal of Medical Genetics Aug 2005, 42 (8) 656-662; DOI: 10.1136/jmg.2004.027888
Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1
HG Kim, S R Herrick, E Lemyre, S Kishikawa, J A Salisz, S Seminara, M E MacDonald, G A P Bruns, C C Morton, B J Quade, J F Gusella

Journal of Medical Genetics Aug 2005, 42 (8) 666-672; DOI: 10.1136/jmg.2004.026989
Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size
Jingmei Li, Jia Nee Foo, Nils Schoof, Jajini S Varghese, Pablo Fernandez-Navarro, Gretchen L Gierach, Swee Tian Quek, Mikael Hartman, Silje Nord, Vessela N Kristensen, Marina Pollán, Jonine D Figueroa, Deborah J Thompson, Yi Li, Chiea Chuen Khor, Keith Humphreys, Jianjun Liu, Kamila Czene, Per Hall

Journal of Medical Genetics Oct 2013, 50 (10) 666-673; DOI: 10.1136/jmedgenet-2013-101708
TBX22 mutations are a frequent cause of cleft palate
A C B Marçano, K Doudney, C Braybrook, R Squires, M A Patton, M M Lees, A Richieri-Costa, A C Lidral, J C Murray, G E Moore, P Stanier

Journal of Medical Genetics Jan 2004, 41 (1) 68-74; DOI: 10.1136/jmg.2003.010868
Heterozygous truncating mutation in the human homeobox gene GSH2 has no discernable phenotypic effect
J G Dauwerse, C E M de Die-Smulders, E Bakker, M H Breuning, D J M Peters

Journal of Medical Genetics Sep 2002, 39 (9) 686-688; DOI: 10.1136/jmg.39.9.686
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

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