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Scholar Results 1 - 10 of about 101 related to Addison: Posterior polar cataract is the predominant consequence of a recurrent mutation.... (0.14 sec) 

Posterior polar cataract is the predominant consequence of a recurrent mutation in the …

- bmj.com [PDF] 
PKF Addison, V Berry, ACW Ionides, PJ … - British Medical Journal, 2005 - jmg.bmj.com
K Tatton-Brown, J Douglas, K Coleman, G Baujat, K Chandler, A Clarke, A Collins,
S Davies, F Faravelli, H Firth, C Garrett, H Hughes, B Kerr, J Liebelt, W
Reardon, GB Schaefer, M Splitt, IK Temple, D Waggoner, DD Weaver, L Wilson, ...
Cited by 8 - Related articles - All 12 versions

Posterior polar cataract: genetic analysis of a large family


S Finzi, Y Li, TN Mitchell, A Farr, IH … - Ophthalmic genetics, 2005 - informahealthcare.com
Congenital cataracts are clinically and genetically heterogeneous. Loci for
autosomal dominant posterior polar cataracts have been mapped to chromosomes
1p36, 11q22-q22.3, 16q22, and 20p12-q12. We investigated a large ...
Cited by 3 - Related articles - BL Direct - All 7 versions

Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract ( …

- bmj.com
V Berry, Z Yang, PKF Addison, PJ Francis, A … - British Medical Journal, 2004 - jmg.bmj.com
The human lens is a unique tissue continually evolving and ever increasing in
size primarily formulated by placement of newly differentiated fibre cells in
concentric lamellae. This is analogous to an onion skin arrangement. This ...
Cited by 16 - Related articles - All 5 versions

Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior …

- iovs.org
C Bidinost, M Matsumoto, D Chung, N Salem, … - Investigative ophthalmology & visual science, 2006 - ARVO
1 From the Health Research and Education Center, Washington State University
Spokane, Spokane, Washington; the 2 Center for Genetic Eye Diseases, Cole Eye
Institute, Cleveland Clinic Foundation, Cleveland, Ohio; the 3 Medical ...
Cited by 8 - Related articles - BL Direct - All 4 versions

[PDF] Functional analysis of human mutations in homeodomain transcription factor PITX3


EV Semina - BMC Molecular Biology, 2007 - biomedcentral.com
Page 1. ...
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[CITATION] Fifty years of human genetics: a festschrift and liber amicorum to celebrate the life and work …


O Mayo, C Leach, 2007 - Wakefield Press Pty, Limited (AUS)
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Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the …


KM Summers, SJ Withers, GA Gole, S Piras, … - Molecular Vision, 2008 - pubmedcentral.nih.gov
A recurrent 17 bp duplication (c.657ins17bp) of a segment of the paired-like
homeodomain transcription factor 3 (PITX3) gene on human chromosome 10 has been
reported in seven families with autosomal dominant posterior polar ...
Related articles - All 5 versions

[PDF] Lens and retina formation require expression of Pitx3 in Xenopus pre-lens ectoderm


F Khosrowshahian, M Wolanski, WY Chang, K … - Developmental Dynamics, 2005 - web2.uwindsor.ca
Pitx3 is expressed in tissues fated to contribute to eye development, namely,
neurula stage ectoderm and prechordal mesoderm, then presumptive lens ectoderm,
placode, and finally lens. Pitx3 overexpression alters lens, optic cup, ...
Cited by 9 - Related articles - View as HTML - BL Direct - All 5 versions

[PDF] The PITX3 gene in posterior polar congenital cataract in Australia


KP Burdon, JD McKay, MG Wirth, IM Russell- … - Mol Vis, 2006 - molvis.org
Bilateral congenital cataract is the leading cause of treat- able blindness
among children worldwide [1]. It is a hetero- geneous group of disorders,
characterized by onset of cataract at birth or during early childhood. The ...
Cited by 9 - Related articles - View as HTML - All 6 versions

[CITATION] The pool of harmful genes in human populations.


GR Fraser - Acta geneticae medicae et gemellologiae, 1962 - ncbi.nlm.nih.gov
1: Acta Genet Med Gemellol (Roma). 1962 Jul;11:284-7. The pool of harmful genes
in human populations. FRASER GR. Mesh Terms: Chromosomes ...
Cited by 1 - Related articles


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