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Gerald A Fishman

Showing results (121-130 of 176) with videos related to

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Investigative Ophthalmology & Visual Science|May 2, 2009
CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosisTimothy T McMahon, Linda S Kim, Gerald A Fishman, et al.
Retina (Philadelphia, Pa.)|September 6, 2005
Outcome measures and their application in clinical trials for retinal degenerative diseases: outline, review, and perspectiveGerald A Fishman, Samuel G Jacobson, Kenneth R Alexander, et al.
Ophthalmic Genetics|February 18, 2015
Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye MaculopathyFrederick T Collison, Yajing Angela Xie, Tomasz Gambin, et al.
European Journal of Human Genetics : EJHG|March 23, 2017
Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descentWinston Lee, Kaspar Schuerch, Jana Zernant, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|January 14, 2004
Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotesGerald A Fishman, Mary Flynn Roberts, Deborah J Derlacki, et al.
Cold Spring Harbor Molecular Case Studies|June 1, 2018
Extremely hypomorphic and severe deep intronic variants in the <i>ABCA4</i> locus result in varying Stargardt disease phenotypesJana Zernant, Winston Lee, Takayuki Nagasaki, et al.
Translational Vision Science & Technology|September 20, 2013
<i>Rhodopsin</i> F45L Allele Does Not Cause Autosomal Dominant Retinitis Pigmentosa in a Large Caucasian FamilyAndrea L Vincent, Joseph Carroll, Gerald A Fishman, et al.
Human Molecular Genetics|April 28, 2021
Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt diseaseWinston Lee, Jana Zernant, Takayuki Nagasaki, et al.
Plos One|December 10, 2016
Multimodal Imaging of Photoreceptor Structure in ChoroideremiaLynn W Sun, Ryan D Johnson, Vesper Williams, et al.
Journal of Medical Genetics|April 28, 2017
Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degenerationJana Zernant, Winston Lee, Frederick T Collison, et al.
Pageof 18

Showing results (121-130 of 176) with videos related to

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Pageof 18
Investigative Ophthalmology & Visual Science|May 2, 2009
CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosisTimothy T McMahon, Linda S Kim, Gerald A Fishman, et al.
Retina (Philadelphia, Pa.)|September 6, 2005
Outcome measures and their application in clinical trials for retinal degenerative diseases: outline, review, and perspectiveGerald A Fishman, Samuel G Jacobson, Kenneth R Alexander, et al.
Ophthalmic Genetics|February 18, 2015
Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye MaculopathyFrederick T Collison, Yajing Angela Xie, Tomasz Gambin, et al.
European Journal of Human Genetics : EJHG|March 23, 2017
Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descentWinston Lee, Kaspar Schuerch, Jana Zernant, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|January 14, 2004
Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotesGerald A Fishman, Mary Flynn Roberts, Deborah J Derlacki, et al.
Cold Spring Harbor Molecular Case Studies|June 1, 2018
Extremely hypomorphic and severe deep intronic variants in the <i>ABCA4</i> locus result in varying Stargardt disease phenotypesJana Zernant, Winston Lee, Takayuki Nagasaki, et al.
Translational Vision Science & Technology|September 20, 2013
<i>Rhodopsin</i> F45L Allele Does Not Cause Autosomal Dominant Retinitis Pigmentosa in a Large Caucasian FamilyAndrea L Vincent, Joseph Carroll, Gerald A Fishman, et al.
Human Molecular Genetics|April 28, 2021
Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt diseaseWinston Lee, Jana Zernant, Takayuki Nagasaki, et al.
Plos One|December 10, 2016
Multimodal Imaging of Photoreceptor Structure in ChoroideremiaLynn W Sun, Ryan D Johnson, Vesper Williams, et al.
Journal of Medical Genetics|April 28, 2017
Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degenerationJana Zernant, Winston Lee, Frederick T Collison, et al.
Pageof 18