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Alejandro J Roman

Showing results (41-50 of 96) with videos related to

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Human Molecular Genetics|January 20, 2011
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathyArtur V Cideciyan, Rivka A Rachel, Tomas S Aleman, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|June 11, 2011
Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degenerationDebarshi Mustafi, Brian M Kevany, Christel Genoud, et al.
Investigative Ophthalmology & Visual Science|September 23, 2016
Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin MutationsSamuel G Jacobson, David B McGuigan, Alexander Sumaroka, et al.
Ophthalmic Genetics|March 30, 2026
Bi-allelic pathogenic variants in <i>NR2E3</i> may be associated with a subtle enhanced S-cone syndrome phenotypeAlexander Hüther, Caroline L Sherman, Alexander Sumaroka, et al.
Investigative Ophthalmology & Visual Science|December 17, 2008
Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutationsSamuel G Jacobson, Tomas S Aleman, Alexander Sumaroka, et al.
American Journal of Ophthalmology|February 19, 2017
Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D MutationsSamuel G Jacobson, Artur V Cideciyan, Alexander Sumaroka, et al.
Investigative Ophthalmology & Visual Science|October 3, 2009
Normal central retinal function and structure preserved in retinitis pigmentosaSamuel G Jacobson, Alejandro J Roman, Tomas S Aleman, et al.
Investigative Ophthalmology & Visual Science|January 2, 2007
RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expressionSamuel G Jacobson, Artur V Cideciyan, Tomas S Aleman, et al.
Investigative Ophthalmology & Visual Science|July 31, 2014
TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular conesSamuel G Jacobson, Artur V Cideciyan, Wei Chieh Huang, et al.
Translational Vision Science & Technology|January 24, 2023
Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical TrialAbraham A Mascio, Alejandro J Roman, Artur V Cideciyan, et al.
Pageof 10

Showing results (41-50 of 96) with videos related to

Sort By:
Pageof 10
Human Molecular Genetics|January 20, 2011
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathyArtur V Cideciyan, Rivka A Rachel, Tomas S Aleman, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|June 11, 2011
Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degenerationDebarshi Mustafi, Brian M Kevany, Christel Genoud, et al.
Investigative Ophthalmology & Visual Science|September 23, 2016
Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin MutationsSamuel G Jacobson, David B McGuigan, Alexander Sumaroka, et al.
Ophthalmic Genetics|March 30, 2026
Bi-allelic pathogenic variants in <i>NR2E3</i> may be associated with a subtle enhanced S-cone syndrome phenotypeAlexander Hüther, Caroline L Sherman, Alexander Sumaroka, et al.
Investigative Ophthalmology & Visual Science|December 17, 2008
Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutationsSamuel G Jacobson, Tomas S Aleman, Alexander Sumaroka, et al.
American Journal of Ophthalmology|February 19, 2017
Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D MutationsSamuel G Jacobson, Artur V Cideciyan, Alexander Sumaroka, et al.
Investigative Ophthalmology & Visual Science|October 3, 2009
Normal central retinal function and structure preserved in retinitis pigmentosaSamuel G Jacobson, Alejandro J Roman, Tomas S Aleman, et al.
Investigative Ophthalmology & Visual Science|January 2, 2007
RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expressionSamuel G Jacobson, Artur V Cideciyan, Tomas S Aleman, et al.
Investigative Ophthalmology & Visual Science|July 31, 2014
TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular conesSamuel G Jacobson, Artur V Cideciyan, Wei Chieh Huang, et al.
Translational Vision Science & Technology|January 24, 2023
Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical TrialAbraham A Mascio, Alejandro J Roman, Artur V Cideciyan, et al.
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