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Scholar Results 1 - 10 of about 101 related to McKay: The telomere of human chromosome 1p contains at least two independent autosomal dominant.... (0.09 sec) 

The telomere of human chromosome 1p contains at least two independent autosomal …

- 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

An autosomal dominant progressive congenital zonular nuclear cataract linked to …


N Li, Y Yang, J Bu, C Zhao, S Lu, J Zhao, L … - Mol Vis, 2006 - molvis.org
Methods: A four-generation family with a history of progressive congenital
cataracts was investigated. Twenty-three members of the family were examined
ophthalmologically. Blood samples were collected from twenty-nine family ...
Cited by 5 - Related articles - Cached - All 3 versions

Autosomal recessive juvenile onset cataract associated with mutation in BFSP1


RD Ramachandran, V Perumalsamy, JF … - Human genetics, 2007 - Springer
Abstract A genome wide scan in a consanguineous family of Indian origin with
autosomal recessive devel- opmental cataracts was performed by two-point link-
age analysis with 382 microsatellite markers. It showed linkage to markers ...
Cited by 25 - Related articles - All 3 versions

A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a …

- iovs.org
S Riazuddin, A Yasmeen, Q Zhang, W Yao, MF … - Investigative ophthalmology & visual science, 2005 - ARVO
RESULTS. In the genome-wide scan, a maximum lod score of 2.89 was obtained for
marker D19S414 on 19q13. Fine mapping using D19S931, D19S433, D19S928, D19S225,
D19S416, D19S213, D19S425, and D19S220 markers from the Généthon database ...
Cited by 12 - Related articles - All 3 versions

A novel locus for autosomal dominant nuclear cataract mapped to chromosome 2p12 in a …

- iovs.org
S Khaliq, A Hameed, M Ismail, K Anwar, SQ … - Investigative ophthalmology & visual science, 2002 - ARVO
(Investigative Ophthalmology and Visual Science. 2002;43:2083-2087.) © 2002 by
The Association for Research in Vision and Ophthalmology, Inc. ... From the Dr.
AQ Khan Research Laboratories, Biomedical and Genetic Engineering Division, ...
Cited by 12 - Related articles - BL Direct - All 3 versions

A novel locus of coralliform cataract mapped to chromosome 2p24-pter


L Gao, W Qin, H Cui, G Feng, P Liu, W Gao, L … - Journal of Human Genetics, 2005 - Springer
Abstract Congenital cataract is a common major abnormality of the eye, which can
result in significant visual impairment or blindness in childhood. In this work,
we studied four generations of a Chinese family that exhibited autosomal ...
Cited by 12 - Related articles - BL Direct - All 5 versions

Mutations in {beta} B3-Crystallin Associated with Autosomal Recessive Cataract in Two …

- iovs.org
S Riazuddin, A Yasmeen, W Yao, YV Sergeev, … - Investigative ophthalmology & visual science, 2005 - ARVO
RESULTS. In the genome-wide scan, maximum lod scores of 2.67 and 2.77 for family
60004 and 2.02 and 2.04 for family 60006 were obtained for markers D22S539 and
D22S315, respectively. The linked region, 22.7 cM (10 Mb) flanked by ...
Cited by 29 - Related articles - All 5 versions

Loss of ephrin-A5 function disrupts lens fiber cell packing and leads to cataract

- nih.gov
MA Cooper, AI Son, D Komlos, Y Sun, NJ … - Proceedings of the National Academy of Sciences, 2008 - National Acad Sciences
Cell–cell interactions organize lens fiber cells into highly ordered
structures to maintain transparency. However, signals regulating such
interactions have not been well characterized. We report here that ...
Cited by 2 - Related articles - All 5 versions

[CITATION] Monosomy 1p36 as a model for the molecular basis of terminal deletions, genomic disorders …


BC Ballif, LG Shaffer, 2006 - Totowa, NJ: Humana Press. p
Cited by 2 - Related articles

Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of …


V Vanita, JF Hejtmancik, HC Hennies, K … - Mol Vis, 2006 - molvis.org
Results: A maximum two-point lod score of 6.37 at θ=0.00 was obtained with
marker D19S879. Haplotype analysis placed the cataract locus to a 5.0 cM region
between D19S902 and D19S867, in close proximity to the L-ferritin light ...
Cited by 11 - Related articles - Cached - All 4 versions


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