Diagnostics

Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions
D Concolino, M A Iembo, E Rossi, S Giglio, G Coppola, E Miraglia del Giudice, P Strisciuglio

Journal of Medical Genetics Mar 2002, 39 (3) 214-216; DOI: 10.1136/jmg.39.3.214
Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome
V P Sybert

Journal of Medical Genetics Mar 2002, 39 (3) 217-220; DOI: 10.1136/jmg.39.3.217
Dilated cardiomyopathy, sudden cardiac death, hypoplastic discs, and retinal detachment: a new autosomal dominant syndrome
J A Goodship, J O'Sullivan, P F Chinnery, A K Ryan, N Ziakas, C M Hall, M Clarke

Journal of Medical Genetics Mar 2002, 39 (3) 221-223; DOI: 10.1136/jmg.39.3.221
Unique de novo mutation of BRCA2 in a woman with early onset breast cancer
M Robson, L Scheuer, K Nafa, N Ellis, K Offit

Journal of Medical Genetics Feb 2002, 39 (2) 126-128; DOI: 10.1136/jmg.39.2.126
A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation
M T Johnson, S Morrison, S Heeger, S Mooney, P H Byers, N H Robin

Journal of Medical Genetics Feb 2002, 39 (2) 128-132; DOI: 10.1136/jmg.39.2.128
Functional characterisation of MeCP2 mutations found in male patients with X linked mental retardation
S Kudo, Y Nomura, M Segawa, N Fujita, M Nakao, S Hammer, C Schanen, I Terai, M Tamura

Journal of Medical Genetics Feb 2002, 39 (2) 132-136; DOI: 10.1136/jmg.39.2.132
Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome
J G Dauwerse, K Bouman, A J van Essen, A H van der Hout, G Kolsters, M H Breuning, D J M Peters

Journal of Medical Genetics Feb 2002, 39 (2) 136-141; DOI: 10.1136/jmg.39.2.136
Molecular changes in skin predict predisposition to breast cancer
V J James, B E Willis

Journal of Medical Genetics Feb 2002, 39 (2) e1; DOI: 10.1136/jmg.39.2.e1
Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dube syndrome
J R Toro, Y O Shevchenko, J G Compton, S J Bale

Journal of Medical Genetics Feb 2002, 39 (2) e10; DOI: 10.1136/jmg.39.2.e10
Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease
M-L Jacquemont, D Campion, V Hahn, C Tallaksen, T Frebourg, A Brice, A Durr

Journal of Medical Genetics Feb 2002, 39 (2) e2; DOI: 10.1136/jmg.39.2.e2

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