Eye Diseases

The frequency of mtDNA 8994 polymorphism and detection of the NARP 8993 mutation
R G F Gray, P A Davies, A Marshall, S K Heath

Journal of Medical Genetics Mar 2002, 39 (3) 204-205; DOI: 10.1136/jmg.39.3.204
An aetiological study of 25 mentally retarded adults with autism
C D M van Karnebeek, I van Gelderen, G J Nijhof, N G Abeling, P Vreken, E J Redeker, A M van Eeghen, J M N Hoovers, R C M Hennekam

Journal of Medical Genetics Mar 2002, 39 (3) 205-213; DOI: 10.1136/jmg.39.3.205
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
A locus for isolated cataract on human Xp
P J Francis, V Berry, A J Hardcastle, E R Maher, A T Moore, S S Bhattacharya

Journal of Medical Genetics Feb 2002, 39 (2) 105-109; DOI: 10.1136/jmg.39.2.105
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
Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters: a new autosomal recessive MCA/MR syndrome?
J Siegel-Bartlet, A Levin, A S Teebi, S J Kennedy

Journal of Medical Genetics Feb 2002, 39 (2) 145-148; DOI: 10.1136/jmg.39.2.145
Dysmorphism, variable overgrowth, normal bone age, and severe developmental delay: a “Sotos-like” syndrome?
J Amiel, L Faivre, L Wilson, M Le Merrer, A Munnich, R Winter, S Lyonnet, V Cormier-Daire

Journal of Medical Genetics Feb 2002, 39 (2) 148-152; DOI: 10.1136/jmg.39.2.148
Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease
W Balemans, N Patel, M Ebeling, E Van Hul, W Wuyts, C Lacza, M Dioszegi, F G Dikkers, P Hildering, P J Willems, J B G M Verheij, K Lindpaintner, B Vickery, D Foernzler, W Van Hul

Journal of Medical Genetics Feb 2002, 39 (2) 91-97; DOI: 10.1136/jmg.39.2.91
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
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology
D Morrison, D FitzPatrick, I Hanson, K Williamson, V van Heyningen, B Fleck, I Jones, J Chalmers, H Campbell

Journal of Medical Genetics Jan 2002, 39 (1) 16-22; DOI: 10.1136/jmg.39.1.16

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