Dermatology

A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
M A M van Steensel, P M Steijlen, R S Bladergroen, M Vermeer, M van Geel

Journal of Medical Genetics Mar 2005, 42 (3) e19; DOI: 10.1136/jmg.2004.021030
Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation
N J Leonard, A L Krol, S Bleoo, M J Somerville

Journal of Medical Genetics Jan 2005, 42 (1) e2; DOI: 10.1136/jmg.2003.017376
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
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
Analphoid de novo marker chromosome inv dup(3)(q28qter) with neocentromere in a dysmorphic and developmentally retarded girl
G Barbi, C Spaich, S Adolph, H Kehrer-Sawatzki

Journal of Medical Genetics Mar 2003, 40 (3) e27; DOI: 10.1136/jmg.40.3.e27
A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia
C Goizet, R Ben Yaou, L Demay, P Richard, S Bouillot, M Rouanet, E Hermosilla, G Le Masson, A Lagueny, G Bonne, X Ferrer

Journal of Medical Genetics Mar 2004, 41 (3) e29; DOI: 10.1136/jmg.2003.013383
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
Search for genetic variants associated with cutaneous malignant melanoma in the Ashkenazi Jewish population
J C Y Loo, A D Paterson, A Hao, M Shennan, H Peretz, Y Sidi, D Hogg, E Yakobson

Journal of Medical Genetics May 2005, 42 (5) e30; DOI: 10.1136/jmg.2004.027300
Extending the p16-Leiden tumour spectrum by respiratory tract tumours
R A Oldenburg, W H de Vos tot Nederveen Cappel, M van Puijenbroek, A van den Ouweland, E Bakker, G Griffioen, P Devilee, C J Cornelisse, H Meijers-Heijboer, H F A Vasen, H Morreau

Journal of Medical Genetics Mar 2004, 41 (3) e31; DOI: 10.1136/jmg.2003.012336
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

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