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Scholar Results 1 - 10 of 12 citing McKay: The telomere of human chromosome 1p contains at least two independent autosomal dominant.... (0.09 sec) 

Congenital cataracts and their molecular genetics

- 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

CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q

- nih.gov [PDF] 
A Shiels, TM Bennett, HLS Knopf, K Yamada, … - The American Journal of Human Genetics, 2007 - Elsevier
Cataracts are a clinically diverse and genetically heterogeneous disorder of the
crystalline lens and a leading cause of visual impairment. Here we report
linkage of autosomal dominant “progressive childhood posterior ...
Cited by 13 - Related articles - BL Direct - All 7 versions

Gene Conversion Mutation in Crystallin, β-B2 (CRYBB2) in a Chilean Family with …


JB Bateman, FRB von-Bischhoffshaunsen, L … - Ophthalmology, 2007 - Elsevier
Cited by 10 - Related articles - All 3 versions

The EPHA2 gene is associated with cataracts linked to chromosome 1p


A Shiels, TM Bennett, HLS Knopf, G Maraini, A … - Molecular Vision, 2008 - pubmedcentral.nih.gov
Cataracts are a clinically and genetically heterogeneous disorder affecting the
ocular lens, and the leading cause of treatable vision loss and blindness
worldwide. Here we identify a novel gene linked with a rare autosomal ...
Cited by 4 - Related articles - All 5 versions

Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total …


KP Burdon, K Hattersley, SA Lachke, KJ … - Molecular Vision, 2008 - pubmedcentral.nih.gov
This is an open-access article distributed under the terms of the Creative
Commons Attribution License, which permits unrestricted use, distribution, and
reproduction in any medium, provided the original work is properly cited.
Cited by 1 - Related articles - All 6 versions

Localization of autosomal recessive congenital cataracts in consanguineous Pakistani …


T Butt, W Yao, H Kaul, J Siaodong, L … - Mol Vis, 2007 - molvis.org
Results: All the affected individuals of family PKCC009 show bilateral
membranous cataract, whereas the affected individuals of family PKCC039 show
bilateral posterior sub-capsular cataract. Other ocular abnormalities ...
Cited by 1 - Related articles - Cached - All 3 versions

A new locus for inherited nuclear cataract mapped to the long arm of chromosome 1


L Wang, H Lin, Y Shen, S Huang, J Gu, H Su, … - Mol Vis, 2007 - molvis.org
Methods: Genomic DNAs were obtained from 17 family members in a four-generation
Chinese family, who had eight members affected with cataract. Exclusive linkage
analysis of known candidate inherited cataract loci was performed. A ...
Cited by 1 - Related articles - Cached - All 3 versions

EPHA2 is associated with age-related cortical cataract in mice and humans


G Jun, H Guo, BEK Klein, R Klein, JJ Wang, P …, 2009 - pubmedcentral.nih.gov
Age-related cataract is a major cause of blindness worldwide, and cortical
cataract is the second most prevalent type of age-related cataract. Although a
significant fraction of age-related cataract is heritable, the genetic ...
Cited by 1 - Related articles - All 12 versions

[CITATION] Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a …


E Chen - American Journal of Medical Genetics Part A, 2008 - Wiley Subscription Services, Inc., A Wiley Company …
Related articles

Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a …


E Chen, E Obolensky, KA Rauen, LG Shaffer, … - American Journal of Medical Genetics Part C: Seminars … - interscience.wiley.com
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