Drugs: endocrine system

Epigenetic abnormalities of the mannose-6-phosphate/IGF2 receptor gene are uncommon in human overgrowth syndromes
C Gicquel, J Weiss, J Amiel, V Gaston, Y Le Bouc, C D Scott

Journal of Medical Genetics Jan 2004, 41 (1) e4; DOI: 10.1136/jmg.2003.010488
BRCA1 functions as a breast stem cell regulator
W D Foulkes

Journal of Medical Genetics Jan 2004, 41 (1) 1-5; DOI: 10.1136/jmg.2003.013805
Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia
R E Harrison, J A Flanagan, M Sankelo, S A Abdalla, J Rowell, R D Machado, C G Elliott, I M Robbins, H Olschewski, V McLaughlin, E Gruenig, F Kermeen, T Laitinen, N W Morrell, R C Trembath

Journal of Medical Genetics Dec 2003, 40 (12) 865-871; DOI: 10.1136/jmg.40.12.865
A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency
G Bonapace, D Concolino, S Formicola, P Strisciuglio

Journal of Medical Genetics Dec 2003, 40 (12) 913-917; DOI: 10.1136/jmg.40.12.913
APOE and TGF-β1 genes are associated with obesity phenotypes
J-R Long, P-Y Liu, Y-J Liu, Y Lu, D-H Xiong, L Elze, R R Recker, H-W Deng

Journal of Medical Genetics Dec 2003, 40 (12) 918-924; DOI: 10.1136/jmg.40.12.918
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations
E Jakkula, J Lohiniva, A Capone, L Bonafe, M Marti, V Schuster, A Giedion, G Eich, E Boltshauser, L Ala-Kokko, A Superti-Furga

Journal of Medical Genetics Dec 2003, 40 (12) 942-948; DOI: 10.1136/jmg.40.12.942
Confirmation linkage study in support of the X chromosome harbouring a QTL underlying human height variation
Y-Z Liu, F-H Xu, H Shen, H Deng, Y-J Liu, L-J Zhao, V Dvornyk, T Conway, J-L Li, Q-Y Huang, K M Davies, R R Recker, H-W Deng

Journal of Medical Genetics Nov 2003, 40 (11) 825-831; DOI: 10.1136/jmg.40.11.825
Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism
F J Serajee, R Nabi, H Zhong, A H M Mahbubul Huq

Journal of Medical Genetics Nov 2003, 40 (11) e119; DOI: 10.1136/jmg.40.11.e119
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
Promoter polymorphisms of the CD14 gene in Italian patients with coeliac disease
M Boniotto, L Braida, A Ventura, S Percopo, A Amoroso, S Crovella

Journal of Medical Genetics Sep 2003, 40 (9) e108; DOI: 10.1136/jmg.40.9.e108

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