Gastroenterology

Consequences of JAG1 mutations
B M Kamath, L Bason, D A Piccoli, I D Krantz, N B Spinner

Journal of Medical Genetics Dec 2003, 40 (12) 891-895; DOI: 10.1136/jmg.40.12.891
Linkage of ulcerative colitis to the pericentromeric region of chromosome 16 in Italian inflammatory bowel disease families is independent of the presence of common CARD15 mutations
V Annese, A Latiano, O Palmieri, H-H Li, P Forabosco, A Ferraris, A Andriulli, M Vecchi, S Ardizzone, M Cottone, B Dallapiccola, E Rappaport, P Fortina, M Devoto

Journal of Medical Genetics Nov 2003, 40 (11) 837-841; DOI: 10.1136/jmg.40.11.837
Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son
G Puoti, F Carrara, S Sampaolo, M De Caro, C M Vincitorio, F Invernizzi, M Zeviani

Journal of Medical Genetics Nov 2003, 40 (11) 858-863; DOI: 10.1136/jmg.40.11.858
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
A tRNA^Ala mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy
R Horváth, H Lochmüller, C Scharfe, B H Do, P J Oefner, J Müller-Höcker, B G Schoser, D Pongratz, D P Auer, M Jaksch

Journal of Medical Genetics Oct 2003, 40 (10) 752-757; DOI: 10.1136/jmg.40.10.752
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
Neurofibromatosis 2 in a patient with a de novo balanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2)
C Bovie, S T Holden, A Schroer, E Smith, D Trump, F L Raymond

Journal of Medical Genetics Sep 2003, 40 (9) 682-684; DOI: 10.1136/jmg.40.9.682
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
Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome
C Zweier, I K Temple, F Beemer, E Zackai, T Lerman-Sagie, B Weschke, C E Anderson, A Rauch

Journal of Medical Genetics Aug 2003, 40 (8) 601-605; DOI: 10.1136/jmg.40.8.601
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

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