KP Burdon, MG Wirth, DA Mackey, IM Russell- … - British Journal of Ophthalmology, 2004 - bjo.bmj.com Methods: 38 families with autosomal dominant or recessive paediatric cataract
were examined. Three large families were studied by linkage analysis. Candidate
genes at regions providing significant LOD scores were sequenced. Single ... Cited by 29 - Related articles - BL Direct - All 14 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
- ►bmj.com E Nandrot, C Slingsby, A Basak, M Cherif- … - British Medical Journal, 2003 - jmg.bmj.com Congenital cataracts are a major cause of bilateral visual impairment in
childhood. We mapped the gene responsible for autosomal congenital cerulean
cataracts to chromosome 2q33–35 in a four generation family of Moroccan ... Cited by 56 - Related articles - BL Direct - All 8 versions
X Shentu, K Yao, W Xu, S Zheng, S Hu, X … - Mol Vis, 2004 - molvis.org Congenital cataracts may be caused by intrauterine em- bryopathies, single gene
defects, or chromosomal rearrange- ments. They are a common abnormality of the
eye and ac- count for approximately one third of all pediatric visual loss ... Cited by 31 - Related articles - View as HTML - All 3 versions
Y Qi, H Jia, S Huang, H Lin, J Gu, H Su, T … - Human Genetics, 2004 - Springer Abstract Congenital cataracts are an important cause of blindness worldwide. In
a family of Chinese descent, a dom- inant congenital nuclear cataract locus was
mapped to chromosome 17q11.1-12. The maximum LOD score, 2.49, at ... Cited by 31 - Related articles - BL Direct - All 3 versions
- ►iovs.org W Ferrini, DF Schorderet, P Othenin-Girard, S … - Investigative ophthalmology & visual science, 2004 - ARVO RESULTS. Affected individuals had a congenital nuclear lactescent cataract in
both eyes. Linkage was observed on chromosome 17 for DNA marker D17S1857 (lod
score: 3.44 at = 0). Direct sequencing of CRYBA3/A1, which maps to the ... Cited by 22 - Related articles - BL Direct - All 8 versions
OM Messina-Baas, LM Gonzalez-Huerta, SA … - Mol Vis, 2006 - molvis.org Results: DNA sequencing analysis of the CRYGA-D cluster genes of the two
affected members showed a novel heterozygous missense mutation c.320A>C within
exon 3 of the CRYGD gene. This transversion mutation resulted in the ... Cited by 11 - Related articles - Cached - All 4 versions
- ►iovs.org JB Bateman, DD Geyer, P Flodman, M Johannes … - Investigative ophthalmology & visual science, 2000 - ARVO METHODS. Members of a Brazilian family with ADC were studied. Clinical
examinations and linkage analyses with polymerase chain reaction (PCR)
polymorphisms of 22 anonymous markers and 2 within the neurofibromatosis ... Cited by 46 - Related articles - BL Direct - 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
欢迎参加第七届中青年呼吸医师论坛 - Chinese medical journal, 2004 - cmj.org Background Congenital cataract is a sight-threatening disease that affects about
1-6 cases per 10000 live births and causes 10%-30% of all blindness in children.
About 25% of all cases are due to genetic defects. We identified autosomal ... Cited by 20 - Related articles - Cached - BL Direct - All 6 versions
