Dermatology

MET mutation and familial gastric cancer
J D Chen, S Kearns, T Porter, F M Richards, E R Maher, B T Teh

Journal of Medical Genetics Aug 2001, 38 (8) e26; DOI: 10.1136/jmg.38.8.e26
Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion
Isabelle Coupry, Laurence Taine, Cyril Goizet, Carine Soriano, Bruno Mortemousque, Benoît Arveiler, Didier Lacombe

Journal of Medical Genetics Jan 2001, 38 (1) 35-38; DOI: 10.1136/jmg.38.1.35
Identification of a novel psoriasis susceptibility locus at 1p and evidence of epistasis between PSORS1 and candidate loci
C D Veal, R L Clough, R C Barber, S Mason, D Tillman, B Ferry, A B Jones, M Ameen, N Balendran, S H Powis, A D Burden, J N W N Barker, R C Trembath

Journal of Medical Genetics Jan 2001, 38 (1) 7-13; DOI: 10.1136/jmg.38.1.7
Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain
KRYSTYNA H CHRZANOWSKA, MARKUS STUMM, MONIKA BEKIESIŃSKA-FIGATOWSKA, RAYMONDA VARON, MAGDALENA BIAŁECKA, HANNA GREGOREK, JACEK MICHAŁKIEWICZ, MAŁGORZATA KRAJEWSKA-WALASEK, SERGIUSZ JÓŹWIAK, ANDRÉ REIS

Journal of Medical Genetics Jan 2001, 38 (1) e3; DOI: 10.1136/jmg.38.1.e3
Identification of cathepsin C mutations in ethnically diverse Papillon-Lefèvre syndrome patients
P S Hart, Y Zhang, E Firatli, C Uygur, M Lotfazar, M D Michalec, J J Marks, X Lu, B J Coates, W K Seow, R Marshall, D Williams, J B Reed, J T Wright, T C Hart

Journal of Medical Genetics Dec 2000, 37 (12) 927-932; DOI: 10.1136/jmg.37.12.927
Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man
Merete Bugge, Gert Bruun-Petersen, Karen Brøndum-Nielsen, Ursula Friedrich, Jan Hansen, Grethe Jensen, Peter K A Jensen, Ulf Kristoffersson, Claes Lundsteen, Erik Niebuhr, Kim R Rasmussen, Kirsten Rasmussen, Niels Tommerup

Journal of Medical Genetics Nov 2000, 37 (11) 858-865; DOI: 10.1136/jmg.37.11.858
Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII
A C NICHOLLS, J L SHER, M J WRIGHT, C OLEY, R F MUELLER, F M POPE

Journal of Medical Genetics Nov 2000, 37 (11) e33; DOI: 10.1136/jmg.37.11.e33
Benign familial infantile convulsions: report of a UK family and confirmation of genetic heterogeneity
D BARALLE, A M DEARLOVE, R BEACH, C FFRENCH-CONSTANT, E REID

Journal of Medical Genetics Oct 2000, 37 (10) e31; DOI: 10.1136/jmg.37.10.e31
Identification of PTEN mutations in metastatic melanoma specimens
Julide Tok Çelebi, Igor Shendrik, David N Silvers, Monica Peacocke

Journal of Medical Genetics Sep 2000, 37 (9) 653-657; DOI: 10.1136/jmg.37.9.653
Achondroplasia and nail-patella syndrome: the compound phenotype
M J WRIGHT, M C AIN, M V CLOUGH, G A BELLUS, O HURKO, I MCINTOSH

Journal of Medical Genetics Sep 2000, 37 (9) e25; DOI: 10.1136/jmg.37.9.e25

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