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Gayle B Collin

Showing results (31-40 of 44) with videos related to

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Human Mutation|April 8, 2015
Alström Syndrome: Mutation Spectrum of ALMS1Jan D Marshall, Jean Muller, Gayle B Collin, et al.
International Journal of Molecular Sciences|February 26, 2022
A Splicing Mutation in <i>Slc4a5</i> Results in Retinal Detachment and Retinal Pigment Epithelium DysfunctionGayle B Collin, Lanying Shi, Minzhong Yu, et al.
International Journal of Molecular Sciences|October 14, 2022
A <i>Dpagt1</i> Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in MiceLillian F Hyde, Yang Kong, Lihong Zhao, et al.
Investigative Ophthalmology & Visual Science|June 13, 2015
A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Müller GliaDennis M Maddox, Gayle B Collin, Akihiro Ikeda, et al.
Plos Genetics|June 8, 2022
Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse modelSonia M Weatherly, Gayle B Collin, Jeremy R Charette, et al.
Investigative Ophthalmology & Visual Science|January 15, 2010
Photoreceptor degeneration, azoospermia, leukoencephalopathy, and abnormal RPE cell function in mice expressing an early stop mutation in CLCN2Malia M Edwards, Caralina Marín de Evsikova, Gayle B Collin, et al.
The American Journal of Pathology|May 22, 2016
Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human DiseaseScott H Greenwald, Jeremy R Charette, Magdalena Staniszewska, et al.
Plos One|May 5, 2011
ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosisElisabetta Zulato, Francesca Favaretto, Caterina Veronese, et al.
Human Mutation|June 28, 2007
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndromeJan D Marshall, Elizabeth G Hinman, Gayle B Collin, et al.
Archives of Internal Medicine|March 30, 2005
New Alström syndrome phenotypes based on the evaluation of 182 casesJan D Marshall, Roderick T Bronson, Gayle B Collin, et al.
Pageof 5

Showing results (31-40 of 44) with videos related to

Sort By:
Pageof 5
Human Mutation|April 8, 2015
Alström Syndrome: Mutation Spectrum of ALMS1Jan D Marshall, Jean Muller, Gayle B Collin, et al.
International Journal of Molecular Sciences|February 26, 2022
A Splicing Mutation in <i>Slc4a5</i> Results in Retinal Detachment and Retinal Pigment Epithelium DysfunctionGayle B Collin, Lanying Shi, Minzhong Yu, et al.
International Journal of Molecular Sciences|October 14, 2022
A <i>Dpagt1</i> Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in MiceLillian F Hyde, Yang Kong, Lihong Zhao, et al.
Investigative Ophthalmology & Visual Science|June 13, 2015
A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Müller GliaDennis M Maddox, Gayle B Collin, Akihiro Ikeda, et al.
Plos Genetics|June 8, 2022
Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse modelSonia M Weatherly, Gayle B Collin, Jeremy R Charette, et al.
Investigative Ophthalmology & Visual Science|January 15, 2010
Photoreceptor degeneration, azoospermia, leukoencephalopathy, and abnormal RPE cell function in mice expressing an early stop mutation in CLCN2Malia M Edwards, Caralina Marín de Evsikova, Gayle B Collin, et al.
The American Journal of Pathology|May 22, 2016
Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human DiseaseScott H Greenwald, Jeremy R Charette, Magdalena Staniszewska, et al.
Plos One|May 5, 2011
ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosisElisabetta Zulato, Francesca Favaretto, Caterina Veronese, et al.
Human Mutation|June 28, 2007
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndromeJan D Marshall, Elizabeth G Hinman, Gayle B Collin, et al.
Archives of Internal Medicine|March 30, 2005
New Alström syndrome phenotypes based on the evaluation of 182 casesJan D Marshall, Roderick T Bronson, Gayle B Collin, et al.
Pageof 5