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Scholar Results 1 - 10 of about 23 citing Jamieson: Pulverulent cataract with variably associated microcornea and iris coloboma in.... (0.09 sec) 

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant …

- iovs.org
J Yardley, BP Leroy, N Hart-Holden, BA … - Investigative ophthalmology & visual science, 2004 - ARVO
1 From the Academic Unit of Medical Genetics and Regional Genetics Service, St.
Mary's Hospital, Manchester, United Kingdom; 3 Department of Ophthalmology,
Ghent University Hospital, Ghent, Belgium; 4 Centre for Medical Genetics, ...
Cited by 45 - Related articles - BL Direct - All 4 versions

Roles of Maf family proteins in lens development


HM Reza, K Yasuda - Developmental Dynamics, 2004 - interscience.wiley.com
Lens provides a good model for studying developmental cues relevant to cellular
and molecular interactions. Basic region/leucine zipper (bZIP) transcription
factors have been found to play key roles during eye formation in various ...
Cited by 27 - Related articles - BL Direct - All 3 versions

A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive …

- iovs.org
N Smaoui, O Beltaief, S BenHamed, R M'Rad, … - Investigative ophthalmology & visual science, 2004 - ARVO
RESULTS. Two-point linkage analyses showed linkage to markers on 16q22 with a
maximum lod score of 17.78 at = 0.01 with D16S3043. Haplotype analysis refined
the critical region to a 1.8-cM (4.8-Mb) interval, flanked by D16S3031 and ...
Cited by 27 - Related articles - BL Direct - All 3 versions

Synergistic transcription activation by Maf and Sox and their subnuclear localization are …

- nih.gov
N Rajaram, TK Kerppola - Molecular and Cellular Biology, 2004 - Am Soc Microbiol
Crystallin genes are selectively expressed during lens development. Maf and Sox
family proteins synergistically enhanced F-crystallin promoter activity in a
lens cell line. Mutational analysis of the F-crystallin promoter identified ...
Cited by 23 - Related articles - BL Direct - All 6 versions

Novel mutations in GJA8 associated with autosomal dominant congenital cataract and …


RR Devi, P Vijayalakshmi - Mol Vis, 2006 - molvis.org
Methods: The coding region of GJA8 was analyzed for mutation by single strand
conformational polymorphism in 60 probands affected with congenital or
developmental cataract of which 11 probands' corneal diameter measured less ...
Cited by 19 - Related articles - Cached - All 6 versions

Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, …

- iovs.org
L Hansen, W Yao, H Eiberg, KW Kjaer, K … - Investigative Ophthalmology & Visual Science, 2007 - ARVO
1 From the Wilhelm Johannsen Centre for Functional Genome Research and 2
Department G, Institute of Medical Biochemistry and Genetics, and Panum
Institute, University of Copenhagen, Copenhagen, Denmark; the 3 Section on ...
Cited by 19 - Related articles - BL Direct - All 2 versions

Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and …


T Forshew, CA Johnson, S Khaliq, S Pasha, C … - Human genetics, 2005 - Springer
Abstract Isolated (non-syndromic) congenital cataract may be inherited as an
autosomal dominant, autosomal recessive, or X-linked recessive trait.
Considerable pro- gress has been made in identifying genes and loci for ...
Cited by 19 - Related articles - BL Direct - All 3 versions

CRYBB1 mutation associated with congenital cataract and microcornea


CE Willoughby, A Shafiq, W Ferrini, LL Chan, … - Mol Vis, 2005 - molvis.org
Methods: Family history and clinical data were recorded. This phenotype was
linked to a 7.6 cM region of chromosome 22q11.2-q12.2, spanning the
β-crystallin gene cluster (Z Max of 3.91 for marker D22S1114 at θ=0). ...
Cited by 18 - Related articles - Cached - All 5 versions

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 18 - Related articles - All 3 versions

New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract …


F Beby, C Commeaux, M Bozon, P Denis, P … - Archives of Ophthalmology, 2007 - Am Med Assoc
You are seeing this message because your Web browser does not support basic Web
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to make your experience on this site better. ... Objective To describe a ...
Cited by 12 - Related articles - BL Direct - All 4 versions


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