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Scholar Results 1 - 8 of 8 citing Addison: Posterior polar cataract is the predominant consequence of a recurrent mutation.... (0.07 sec) 

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

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

A heterozygous c-Maf transactivation domain mutation causes congenital cataract and …

- oxfordjournals.org
R Perveen, J Favor, RV Jamieson, DW Ray, G … - Human Molecular Genetics, 2007 - Oxford Univ Press
MAF, one of a family of large Maf bZIP transcription factors, is mutated in
human developmental ocular disorders that include congenital cataract,
microcornea, coloboma and anterior segment dysgenesis. Expressed early in ...
Cited by 4 - Related articles - BL Direct - All 5 versions

Functional analysis of human mutations in homeodomain transcription factor PITX 3


S Sakazume, E Sorokina, Y Iwamoto, EV … - BMC molecular biology, 2007 - biomedcentral.com
The G219fs mutation was found in multiple families affected with congenital
cataracts along with anterior segment malformations in many members. Our data
suggest that the presence/severity of anterior segment defects in families ...
Cited by 2 - Related articles - Cached - All 7 versions

Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a …


E McCann, SB Kaye, W Newman, G Norbury, … - American Journal of Medical Genetics Part A, 2005 - interscience.wiley.com
Fibroblast growth factor receptor 2 (FGFR2) mutations are associated with
syndromic and non-syndromic craniosynostoses. More recently it has been
recognized that FGFR2 may have a role in the development of the anterior ...
Cited by 2 - Related articles - BL Direct - All 3 versions

[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)
Related articles

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] Functional analysis of human mutations in homeodomain transcription factor PITX3


EV Semina - BMC Molecular Biology, 2007 - biomedcentral.com
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