Gastroenterology

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
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
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
Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in Germany
U Hamann, X Liu, S Lange, H U Ulmer, A Benner, R J Scott

Journal of Medical Genetics Mar 2002, 39 (3) e12; DOI: 10.1136/jmg.39.3.e12
Chinese patients with sporadic Hirschsprung’s disease are predominantly represented by a single RET haplotype
M-M Garcia-Barceló, M-H Sham, V C-H Lui, B L-S Chen, Y-Q Song, W-S Lee, S-K Yung, G Romeo, P K-H Tam

Journal of Medical Genetics Nov 2003, 40 (11) e122; DOI: 10.1136/jmg.40.11.e122
Genetics of the FANCA gene in familial pancreatic cancer
C D Rogers, F J Couch, K Brune, S T Martin, J Philips, K M Murphy, G Petersen, C J Yeo, R H Hruban, M Goggins

Journal of Medical Genetics Dec 2004, 41 (12) e126; DOI: 10.1136/jmg.2004.024851
NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome
G Borck, R Redon, D Sanlaville, M Rio, M Prieur, S Lyonnet, M Vekemans, N P Carter, A Munnich, L Colleaux, V Cormier-Daire

Journal of Medical Genetics Dec 2004, 41 (12) e128; DOI: 10.1136/jmg.2004.026666

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