Gastroenterology

Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients
G Fitze, E Paditz, M Schläfke, E Kuhlisch, D Roesner, H K Schackert

Journal of Medical Genetics Feb 2003, 40 (2) e10; DOI: 10.1136/jmg.40.2.e10
Identification of a splice acceptor site mutation in p16^INK4A/p14^ARF within a breast cancer, melanoma, neurofibroma prone kindred
A H Prowse, D C Schultz, S Guo, L Vanderveer, J Dangel, B Bove, P Cairns, M Daly, A K Godwin

Journal of Medical Genetics Aug 2003, 40 (8) e102; DOI: 10.1136/jmg.40.8.e102
Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease
S D Whatley, N G Mason, M Khan, M Zamiri, M N Badminton, W N Missaoui, T A Dailey, H A Dailey, W S Douglas, N J Wainwright, G H Elder

Journal of Medical Genetics Aug 2004, 41 (8) e105; DOI: 10.1136/jmg.2003.016121
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
Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations?
R M W Hofstra, P Elfferich, J Osinga, E Verlind, E Fransen, J López Pisón, C E M de Die-Smulders, I Stolte-Dijkstra, C H C M Buys

Journal of Medical Genetics Mar 2002, 39 (3) e11; DOI: 10.1136/jmg.39.3.e11
No evidence for mosaicism in Silver-Russell syndrome
DAVID MONK, MEGAN HITCHINS, SILVIA RUSSO, MICHAEL PREECE, PHILIP STANIER, GUDRUN E MOORE

Journal of Medical Genetics Apr 2001, 38 (4) e11; DOI: 10.1136/jmg.38.4.e11
Transmission disequilibrium test of stromelysin-1 gene variation in relation to Crohn’s disease
S L F Pender, P J P Croucher, S Mascheretti, J D Prothero, S A Fisher, T T MacDonald, S Schreiber, Shu Ye

Journal of Medical Genetics Sep 2004, 41 (9) e112; DOI: 10.1136/jmg.2004.023572
BRCA1 c.2845insA is a recurring mutation with a founder effect in Singapore Malay women with early onset breast/ovarian cancer
J-H Sng, A B Ali, S C Lee, D Zahar, J E L Wong, V Blake, A Sharif, G Cross, P T C Iau

Journal of Medical Genetics Oct 2003, 40 (10) e117; DOI: 10.1136/jmg.40.10.e117
Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis
F Niel, J Martin, F Dastot-Le Moal, B Costes, B Boissier, V Delattre, M Goossens, E Girodon

Journal of Medical Genetics Nov 2004, 41 (11) e118; DOI: 10.1136/jmg.2004.022400
A family with hereditary port wine stain
JONATHAN N BERG, A A QUABA, A GEORGANTOPOULOU, MARY E M PORTEOUS

Journal of Medical Genetics Aug 2000, 37 (8) e12; DOI: 10.1136/jmg.37.8.e12

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