Clinical genetics

Spastin gene mutation in Japanese with hereditary spastic paraplegia
I Yabe, H Sasaki, K Tashiro, T Matsuura, T Takegami, T Satoh

Journal of Medical Genetics Aug 2002, 39 (8) e46; DOI: 10.1136/jmg.39.8.e46
Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1
P Hedera, H V Toriello, E M Petty

Journal of Medical Genetics Jul 2002, 39 (7) 484-488; DOI: 10.1136/jmg.39.7.484
Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1
M Zortea, A Vettori, C P Trevisan, S Bellini, G Vazza, M Armani, A Simonati, M L Mostacciuolo

Journal of Medical Genetics Jun 2002, 39 (6) 387-390; DOI: 10.1136/jmg.39.6.387
What do women really want to know? Motives for attending familial breast cancer clinics
C J van Asperen, S van Dijk, M W Zoeteweij, D R M Timmermans, G H de Bock, E J Meijers-Heijboer, M F Niermeijer, M H Breuning, J Kievit, W Otten

Journal of Medical Genetics Jun 2002, 39 (6) 410-414; DOI: 10.1136/jmg.39.6.410
Mutation screening of the PKD1 transcript by RT-PCR
S Burtey, A M Lossi, J Bayle, Y Berland, M Fontés

Journal of Medical Genetics Jun 2002, 39 (6) 422-429; DOI: 10.1136/jmg.39.6.422
Leber hereditary optic neuropathy
P Y W Man, D M Turnbull, P F Chinnery

Journal of Medical Genetics Mar 2002, 39 (3) 162-169; DOI: 10.1136/jmg.39.3.162
Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13
M J Abramowicz, J Albuquerque-Silva, A Zanen

Journal of Medical Genetics Feb 2002, 39 (2) 110-112; DOI: 10.1136/jmg.39.2.110
A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36
L Naiglin, C Gazagne, F Dallongeville, C Thalamas, A Idder, O Rascol, F Malecaze, P Calvas

Journal of Medical Genetics Feb 2002, 39 (2) 118-124; DOI: 10.1136/jmg.39.2.118
Current status of human chromosome 14
D Kamnasaran, D W Cox

Journal of Medical Genetics Feb 2002, 39 (2) 81-90; DOI: 10.1136/jmg.39.2.81
Refined mapping of the gene for otopalatodigital syndrome type I
T Kosho, T Uemura, M Tanimura, H Ohashi, K Muroya, T Ogata

Journal of Medical Genetics Feb 2002, 39 (2) e7; DOI: 10.1136/jmg.39.2.e7

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