Clinical genetics

Behavioural phenotype of Bardet-Biedl syndrome
S Barnett, S Reilly, L Carr, I Ojo, P L Beales, T Charman

Journal of Medical Genetics Dec 2002, 39 (12) e76; DOI: 10.1136/jmg.39.12.e76
Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree
A Starling, P Rocco, M R Passos-Bueno, J Hazan, S K Marie, M Zatz

Journal of Medical Genetics Dec 2002, 39 (12) e77; DOI: 10.1136/jmg.39.12.e77
Hereditary duplication of proximal chromosome 1q (q11q22) in a patient with T lymphoblastic lymphoma/leukaemia: a family study using G banding and comparative genomic hybridisation
N P H Chan, M H L Ng, S H Cheng, V Lee, K S Tsang, T T Lau, C K Li

Journal of Medical Genetics Dec 2002, 39 (12) e79; DOI: 10.1136/jmg.39.12.e79
Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms
L Cremonesi, A Cozzi, D Girelli, F Ferrari, I Fermo, B Foglieni, S Levi, C Bozzini, M Camparini, M Ferrari, P Arosio

Journal of Medical Genetics Jun 2004, 41 (6) e81; DOI: 10.1136/jmg.2003.011718
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients
E Ars, H Kruyer, M Morell, E Pros, E Serra, A Ravella, X Estivill, C Lázaro

Journal of Medical Genetics Jun 2003, 40 (6) e82; DOI: 10.1136/jmg.40.6.e82
Comparison of genetic services with and without genetic registers: knowledge, adjustment, and attitudes about genetic counselling among probands referred to three genetic clinics
C Wright, L Kerzin-Storrar, P R Williamson, A Fryer, A Njindou, O Quarrell, D Donnai, D Craufurd

Journal of Medical Genetics Dec 2002, 39 (12) e84; DOI: 10.1136/jmg.39.12.e84
Comparison of genetic services with and without genetic registers: access and attitudes to genetic counselling services among relatives of genetic clinic patients
L Kerzin-Storrar, C Wright, P R Williamson, A Fryer, A Njindou, O Quarrell, D Donnai, D Craufurd

Journal of Medical Genetics Dec 2002, 39 (12) e85; DOI: 10.1136/jmg.39.12.e85
Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers
A S Ramalho, S Beck, D Penque, T Gonska, H H Seydewitz, M Mall, M D Amaral

Journal of Medical Genetics Jul 2003, 40 (7) e88; DOI: 10.1136/jmg.40.7.e88
Association of the connexin36 gene with juvenile myoclonic epilepsy
C Mas, N Taske, S Deutsch, M Guipponi, P Thomas, A Covanis, M Friis, M J Kjeldsen, G P Pizzolato, J-G Villemure, C Buresi, M Rees, A Malafosse, M Gardiner, S E Antonarakis, P Meda

Journal of Medical Genetics Jul 2004, 41 (7) e93; DOI: 10.1136/jmg.2003.017954
Genetic refinement and physical mapping of a biparental complete hydatidiform mole locus on chromosome 19q13.4.
M D Hodges, H C Rees, M J Seckl, E S Newlands, R A Fisher

Journal of Medical Genetics Aug 2003, 40 (8) e95; DOI: 10.1136/jmg.40.8.e95

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