Gastroenterology

Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion
E Schollen, S Kjaergaard, T Martinsson, S Vuillaumier-Barrot, M Dunoe, L Keldermans, N Seta, G Matthijs

Journal of Medical Genetics Nov 2004, 41 (11) 877-880; DOI: 10.1136/jmg.2004.022350
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
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
Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype
J Yarden, D Radojkovic, K De Boeck, M Macek, D Zemkova, V Vavrova, R Vlietinck, J-J Cassiman, H Cuppens

Journal of Medical Genetics Aug 2004, 41 (8) 629-633; DOI: 10.1136/jmg.2003.017947
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
Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)
E Schollen, C G Frank, L Keldermans, R Reyntjens, C E Grubenmann, P T Clayton, B G Winchester, J Smeitink, R A Wevers, M Aebi, T Hennet, G Matthijs

Journal of Medical Genetics Jul 2004, 41 (7) 550-556; DOI: 10.1136/jmg.2003.016923
Genetic susceptibility in familial melanoma from northeastern Italy
M T Landi, A M Goldstein, S Tsang, D Munroe, W Modi, M Ter-Minassian, R Steighner, M Dean, N Metheny, B Staats, R Agatep, D Hogg, D Calista

Journal of Medical Genetics Jul 2004, 41 (7) 557-566; DOI: 10.1136/jmg.2003.016907
Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival
J E A Common, W-L Di, D Davies, D P Kelsell

Journal of Medical Genetics Jul 2004, 41 (7) 573-575; DOI: 10.1136/jmg.2003.017632
FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour
P Finelli, F Natacci, M T Bonati, G Gottardi, J J M Engelen, C E M de Die-Smulders, M Sala, D Giardino, L Larizza

Journal of Medical Genetics Jul 2004, 41 (7) e90; DOI: 10.1136/jmg.2003.016311
Microsatellite instability as indicator of MSH2 gene mutation in patients with upper urinary tract transitional cell carcinoma
M Roupret, J Catto, F Coulet, A-R Azzouzi, N Amira, T Karmouni, G Fromont, M Sibony, G Vallancien, B Gattegno, M Meuth, F C Hamdy, O Cussenot

Journal of Medical Genetics Jul 2004, 41 (7) e91; DOI: 10.1136/jmg.2003.017871

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