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Scholar Results 1 - 5 of 5 citing Reddy: A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS).... (0.10 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 44 - Related articles - BL Direct - All 4 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

An αA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits …


LY Zhang, GHF Yam, POS Tam, RYK Lai, … - Molecular Vision, 2009 - pubmedcentral.nih.gov
A three-generation Chinese family with members having autosomal dominant
cataract and microcornea was recruited. Genomic DNA from peripheral blood or
buccal swab samples of five affected and five unaffected members were ...
Related articles - All 5 versions

[PDF] Hereditary retinal disease


CJF Boon - dare.ubn.kun.nl
Het drukken van dit proefschrift werd mede mogelijk gemaakt dankzij een
financiële bijdrage van: Radboud Universiteit Nijmegen, Stichting Researchfonds
Oogheelkunde, Rotterdamse Blindenbelangen, Landelijke Stichting voor ...
Related articles - All 2 versions

Evidence of Genetic Heterogeneity in MRCS (Microcornea, Rod-Cone Dystrophy, Cataract, …


M Michaelides, J Urquhart, GE Holder, M … - American journal of ophthalmology, 2006 - Elsevier
A 12-year-old boy was identified with bilateral microcornea, rod-cone dystrophy,
congenital cataracts, and posterior staphylomata associated with high myopia
(MRCS). Mutation screening failed to identify disease-causing sequence ...
Related articles - All 5 versions


 


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