- ►bmj.com [PDF] Z Ma, J Zheng, F Yang, J Ji, X Li, X Tang, X … - British Medical Journal, 2005 - bjo.bmj.com Bilateral naevus of Ota with choroidal melanoma and diffuse retinal pigmentation
in a dark skinned person Naevus of Ota (naevus fusculocoeruleus
ophthalmomaxillaris) was described by the Japanese dermatologist, Ota, in ... Cited by 15 - Related articles - All 9 versions
RR Devi, C Reena, P Vijayalakshmi - Mol Vis, 2005 - molvis.org Results: Two novel missense mutations were identified in Cx46. The mutation in
Family 1 was characterized as R76G with a total cataract phenotype. A V28M
missense mutation was identified in family 2, the cataract phenotype varied ... Cited by 15 - Related articles - Cached - All 6 versions
K Guleria, V Vanita, D Singh, JR Singh - Mol Vis, 2007 - molvis.org Results: Sequencing of the coding region of GJA3 showed the presence of a novel,
heterozygous C260T change in one family (CC-472) who had two affected members.
The cataract phenotype gave the appearance like a "pearl box" in these two ... Cited by 4 - Related articles - Cached - All 3 versions
Y Li, J Wang, B Dong, H Man - Mol Vis, 2004 - molvis.org Results: Significant two point lod score was generated at marker D13S175 (Z max
=3.61, θ=0), further linkage and haplotype studies confined the disease locus
to 13q11-13. Mutation screening of connexin46 in this family revealed an ... Cited by 30 - Related articles - Cached - All 3 versions
RR Devi, P Vijayalakshmi - Mol Vis, 2006 - molvis.org Methods: The coding region of GJA8 was analyzed for mutation by single strand
conformational polymorphism in 60 probands affected with congenital or
developmental cataract of which 11 probands' corneal diameter measured less ... Cited by 19 - Related articles - Cached - All 6 versions
- ►bmj.com KP Burdon, MG Wirth, DA Mackey, IM Russell- … - British Medical Journal, 2004 - jmg.bmj.com The pedigree crch13 was identified through a database maintained by the Royal
Children's Hospital, Melbourne, Australia and the Royal Victorian Eye and Ear
Hospital, Melbourne, comprising paediatric cataract patients from ... Cited by 19 - Related articles - All 6 versions
TM Bennett, DS Mackay, HL Knopf, A Shiels - Mol Vis, 2004 - molvis.org Results: Significant evidence of linkage was obtained at marker D13S175 (LOD
score [Z]=4.11, recombination fraction [θ]=0.0) and haplotyping indicated that
the disease gene lay in the about 2 Mb physical interval between D13S1316 ... Cited by 29 - Related articles - Cached - All 3 versions
- ►bmj.com CE Willoughby, S Arab, R Gandhi, S Zeinali, S … - British Medical Journal, 2003 - jmg.bmj.com Previous genetic studies of congenital cataracts identified connexin 50 (Cx50)
as a cataract related gene. 10– 12 Here we report a novel heterozygous R23T
mutation in the GJA8 gene (MIM#600897) encoding connexin 50, in an Iranian ... Cited by 39 - Related articles - All 14 versions
V Vanita, HC Hennies, D Singh, P Nurnberg, K … - Mol Vis, 2006 - molvis.org Results: A maximum two point lod score of 5.45 at θ=0.00 was obtained with
marker D1S534. Haplotype analysis placed the cataract locus to a 14.1 cM region
between D1S221 and D1S498, in close proximity to the gene for the gap ... Cited by 15 - Related articles - Cached - All 4 versions
PK Addison, V Berry, KR Holden, D Espinal, B … - Mol Vis, 2006 - molvis.org Purpose: A five-generation Hispanic pedigree with autosomal dominant zonular
pulverulent cataract was studied to identify the causative mutation in connexin
46 (Cx46), a gap junction protein responsible for maintaining lens homeostasis. Cited by 10 - Related articles - Cached - All 3 versions
