Eye Diseases

Dysosteosclerosis: a report of three new cases and evolution of the radiological findings
N H Elçioglu, A Vellodi, C M Hall

Journal of Medical Genetics Aug 2002, 39 (8) 603-607; DOI: 10.1136/jmg.39.8.603
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
Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease
N J Marchbank, J E Craig, J P Leek, M Toohey, A J Churchill, A F Markham, D A Mackey, C Toomes, C F Inglehearn

Journal of Medical Genetics Aug 2002, 39 (8) e47; DOI: 10.1136/jmg.39.8.e47
Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle
A Splendore, E W Jabs, M R Passos-Bueno

Journal of Medical Genetics Jul 2002, 39 (7) 493-495; DOI: 10.1136/jmg.39.7.493
Comorbid VHL and SCA2 mutations in a large kindred: confounding diagnosis of neurological dysfunction caused by CNS VHL vascular tumours versus SCA2 atrophic neurodegeneration
D E McNeil, W M Linehan, G M Glenn

Journal of Medical Genetics Jul 2002, 39 (7) e37; DOI: 10.1136/jmg.39.7.e37
Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?
M Holder-Espinasse, S Marie, G Bourrouillou, I Ceballos-Picot, M-C Nassogne, L Faivre, J Amiel, A Munnich, M-F Vincent, V Cormier-Daire

Journal of Medical Genetics Jun 2002, 39 (6) 440-442; DOI: 10.1136/jmg.39.6.440
Novel mutations in the γ-crystallin genes cause autosomal dominant congenital cataracts
S T Santhiya, M Shyam Manohar, D Rawlley, P Vijayalakshmi, P Namperumalsamy, P M Gopinath, J Löster, J Graw

Journal of Medical Genetics May 2002, 39 (5) 352-358; DOI: 10.1136/jmg.39.5.352
Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndrome
M Hmani-Aifa, S Ben Arab, K Kharrat, D J Orten, A Boulila-Elgaied, M Drira, S Hachicha, W J Kimberling, H Ayadi

Journal of Medical Genetics Apr 2002, 39 (4) 281-283; DOI: 10.1136/jmg.39.4.281
Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene
J-M Rozet, I Perrault, N Gigarel, E Souied, I Ghazi, S Gerber, J-L Dufier, A Munnich, J Kaplan

Journal of Medical Genetics Apr 2002, 39 (4) 284-285; DOI: 10.1136/jmg.39.4.284
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

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