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Samuel G Jacobson

Showing results (151-160 of 224) with videos related to

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Human Molecular Genetics|August 29, 2003
Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degenerationCaroline Hayward, Xinhua Shu, Artur V Cideciyan, et al.
Investigative Ophthalmology & Visual Science|October 27, 2006
Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degenerationAmir A Azari, Tomas S Aleman, Artur V Cideciyan, et al.
Scientific Reports|September 24, 2017
Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degenerationChloe M Stanton, Shyamanga Borooah, Camilla Drake, et al.
Human Molecular Genetics|December 23, 2020
RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP)Laura Moreno-Leon, Emma L West, Michelle O'Hara-Wright, et al.
Investigative Ophthalmology & Visual Science|January 27, 2005
Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotypeSharon B Schwartz, Tomas S Aleman, Artur V Cideciyan, et al.
Human Molecular Genetics|October 5, 2012
Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutantsSamuel G Jacobson, Artur V Cideciyan, Igor V Peshenko, et al.
Plos Medicine|June 28, 2007
Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutationGeoffrey K Aguirre, András M Komáromy, Artur V Cideciyan, et al.
Cell Reports|July 13, 2017
In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 MutationsHiroko Shimada, Quanlong Lu, Christine Insinna-Kettenhofen, et al.
Human Gene Therapy|July 9, 2009
Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 yearArtur V Cideciyan, William W Hauswirth, Tomas S Aleman, et al.
Human Gene Therapy|July 8, 2010
Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in IsraelEyal Banin, Dikla Bandah-Rozenfeld, Alexey Obolensky, et al.
Pageof 23

Showing results (151-160 of 224) with videos related to

Sort By:
Pageof 23
Human Molecular Genetics|August 29, 2003
Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degenerationCaroline Hayward, Xinhua Shu, Artur V Cideciyan, et al.
Investigative Ophthalmology & Visual Science|October 27, 2006
Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degenerationAmir A Azari, Tomas S Aleman, Artur V Cideciyan, et al.
Scientific Reports|September 24, 2017
Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degenerationChloe M Stanton, Shyamanga Borooah, Camilla Drake, et al.
Human Molecular Genetics|December 23, 2020
RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP)Laura Moreno-Leon, Emma L West, Michelle O'Hara-Wright, et al.
Investigative Ophthalmology & Visual Science|January 27, 2005
Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotypeSharon B Schwartz, Tomas S Aleman, Artur V Cideciyan, et al.
Human Molecular Genetics|October 5, 2012
Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutantsSamuel G Jacobson, Artur V Cideciyan, Igor V Peshenko, et al.
Plos Medicine|June 28, 2007
Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutationGeoffrey K Aguirre, András M Komáromy, Artur V Cideciyan, et al.
Cell Reports|July 13, 2017
In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 MutationsHiroko Shimada, Quanlong Lu, Christine Insinna-Kettenhofen, et al.
Human Gene Therapy|July 9, 2009
Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 yearArtur V Cideciyan, William W Hauswirth, Tomas S Aleman, et al.
Human Gene Therapy|July 8, 2010
Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in IsraelEyal Banin, Dikla Bandah-Rozenfeld, Alexey Obolensky, et al.
Pageof 23