J Graw, J Löster - Int J Dev Biol, 2004 - ijdb.ehu.es ABSTRACT Congenital cataracts are rare and occur in developed countries with a
frequency of 30 cases among 100,000 births with a further 10 cases being
diagnosed during childhood. They reflect mainly genetically caused ... Cited by 78 - Related articles - View as HTML - All 7 versions
- ►bbk.ac.uk [PDF] P Evans, K Wyatt, GJ Wistow, OA Bateman, BA … - Journal of molecular biology, 2004 - Elsevier Mutations in the human γD-crystallin gene have been linked to several types of
congenital cataracts. In particular, the Pro23 to Thr (P23T) mutation of human
γD crystallin has been linked to cerulean, lamellar, coralliform, and ... Cited by 42 - Related articles - All 7 versions
DS Mackay, UP Andley, A Shiels - Mol Vis, 2004 - molvis.org Results: Significant evidence of linkage was detected at markers D2S371 (LOD
score [Z]=3.81, recombination fraction [θ]=0) and D2S369 (Z=3.64, θ=0).
Haplotyping indicated that the disease gene lay in the approximate 10 Mb ... Cited by 33 - Related articles - Cached - All 3 versions
- ►yu.edu [PDF] A Pande, O Annunziata, N Asherie, O Ogun, … - Biochemistry, 2005 - pubs.acs.org Because you do not have JavaScript enabled, the Quick Search functionality is
not displayed here. Please enable JavaScript or use the Advanced Search Page. ... This work was supported by the National Institutes of Health Grants ... Cited by 30 - Related articles - All 8 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
- ►nih.gov JF Hejtmancik - Seminars in Cell and Developmental Biology, 2007 - Elsevier Cataract can be defined as any opacity of the crystalline lens. Congenital
cataract is particularly serious because it has the potential for inhibiting
visual development, resulting in permanent blindness. Inherited cataracts ... Cited by 17 - Related articles - All 3 versions
- ►nih.gov - Free from Publisher JD McKay, B Patterson, JE Craig, IM Russell … - British Journal of Ophthalmology, 2005 - bjo.bmj.com Results: Significant linkage was detected at the telomere of the p arm of
chromosome 1, with a maximum two point LOD of 4.21 at marker D1S507, a maximum
multipoint exact LOD of 5.44, and an estimated location score of 5.61 at ... Cited by 12 - Related articles - All 12 versions
S Lu, C Zhao, H Jiao, J Kere, X Tang, F Zhao … - Mol Vis, 2007 - molvis.org Results: Lens examinations in three affected phakic members showed bilateral
pulverulent nuclear cataracts in two subjects of Family 1 while another subject
of Family 2 displayed bilateral pulverulent lamellar cataract. Linkage ... Cited by 12 - Related articles - Cached - All 2 versions
- ►nih.gov OV Plotnikova, FA Kondrashov, PK Vlasov, AP … - The American Journal of Human Genetics, 2007 - Elsevier We identified a mutation in the CRYGD gene (P23S) of the γ-crystallin gene
cluster that is associated with a polymorphic congenital cataract that occurs
with frequency of 0.3% in a human population. To gain insight into the ... Cited by 11 - Related articles - BL Direct - All 6 versions
