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Investigative Ophthalmology & Visual Science|August 17, 2013
Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosaLori S Sullivan, Sara J Bowne, Melissa J Reeves, et al.
JAMA Ophthalmology|February 13, 2015
Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal DystrophiesSuma P Shankar, David G Birch, Richard S Ruiz, et al.
Investigative Ophthalmology & Visual Science|February 5, 2016
Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as ModifiersSuma P Shankar, Dianna K Hughbanks-Wheaton, David G Birch, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|November 16, 2011
Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7Yuquan Wen, Kirsten G Locke, Martin Klein, et al.
Human Molecular Genetics|March 5, 2002
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosaSara J Bowne, Lori S Sullivan, Susan H Blanton, et al.
Investigative Ophthalmology & Visual Science|September 28, 2006
Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosaLori S Sullivan, Sara J Bowne, C Robyn Seaman, et al.
Investigative Ophthalmology & Visual Science|February 2, 2013
Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosaJennifer D Churchill, Sara J Bowne, Lori S Sullivan, et al.
Plos One|March 11, 2016
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis PigmentosaSamuel P Strom, Michael J Clark, Ariadna Martinez, et al.
Advances in Experimental Medicine and Biology|May 4, 2018
Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP)Stephen P Daiger, Sara J Bowne, Lori S Sullivan, et al.
American Journal of Ophthalmology|October 11, 2005
Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 genePetra Kozma, Dianna K Hughbanks-Wheaton, Kirsten G Locke, et al.
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