Results 101 to 110 of about 7,465 (249)

Spectrum ofSPATA7mutations in Leber congenital amaurosis and delineation of the associated phenotype [PDF]

, 2010
Isabelle Perrault, Sylvain Hanein, Xavier Gérard, Nathalie Delphin, Lucas Fares‐Taie, S. Gerber, Valérie Pelletier, Emilie Mercé, Hélène Dollfus, Bernard Puech, Sabine Defoort‐Dhellemmes, Michael D Petersen, Dimitrios Zafeiriou, Arnold Münnich, Josseline Kaplan, Olivier Roche, Jean‐Michel Rozet   +16 more
openalex   +1 more source

Null RPGRIP1 Alleles in Patients with Leber Congenital Amaurosis

, 2001
We isolated and characterized the entire coding sequence of a human gene encoding a protein that interacts with RPGR, a protein that is absent or mutant in many cases of X-linked retinitis pigmentosa.
Dryja, Thaddeus P., Berson, Eliot L., Grimsby, Jonna L., Li, Tiansen, Adams, Scott M., McGee, Terri L., Hong, Dong-Hyun, Andréasson, Sten   +7 more
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Leber congenital amaurosis : prevalence, genotype- phenotype correlations and new findings in a Brazilian cohort

, 2020
Objetivo: Estudar o perfil genético de uma coorte brasileira com distrofia hereditária da retina com atenção especial aos casos de amaurose congênita de Leber.
Motta, Fabiana Louise Teixeira [UNIFESP]
core  

Voretigene Neparvovec and Gene Therapy for Leber’s Congenital Amaurosis: Review of Evidence to Date

The Application of Clinical Genetics, 2020
Srikanta Kumar Padhy,1 Brijesh Takkar,2,3 Raja Narayanan,2 Pradeep Venkatesh,4 Subhadra Jalali2,5 1Vitreoretina and Uveitis Services, L V Prasad Eye Institute, Mithu Tulsi Chanrai Campus, Bhubaneswar, India; 2Srimati Kanuri Santhamma Center for ...
Padhy SK, Takkar B, Narayanan R, Venkatesh P, Jalali S   +4 more
doaj  

The Leber Congenital Amaurosis-Linked Protein AIPL1 and Its Critical Role in Photoreceptors

, 2018
Mutations in the photoreceptor/pineal-expressed gene, aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1), are mainly associated with autosomal recessive Leber congenital amaurosis (LCA), the most severe form of inherited retinopathy that occurs
Jacqueline van der Spuy, Sacristan-Reviriego, Almudena, Almudena Sacristan-Reviriego, Van der Spuy, Jacqueline   +3 more
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The Optic Disk in Leber Congenital Amaurosis

, 1992
The typical fundus appearance in Leber congenital amaurosis (LCA) in infancy is normal. Later in childhood, clinical heterogeneity develops and a variety of fundal abnormalities may be seen.
Musarella, MA, Lambert, SR, Sullivan, TJ, Buncic, JR   +3 more
core  

Canine RPGRIP1 mutation establishes cone–rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis

, 2006
Cone–rod dystrophy 1 (cord1) is a recessive condition that occurs naturally in miniature longhaired dachshunds (MLHDs). We mapped the cord1 locus to a region of canine chromosome CFA15 that is syntenic with a region of human chromosome 14 (HSA14q11.2 ...
Sampson, J., Barnett, K.C, Boursnell, M.E.G., Ryder, E.J., Boursnell, M.E.G, Binns, M.M., Ryder, E.J, Grafham, D., Grafham, D, Blanton, S., Mellersh, C.S, Holmes, N.G, Forman, O.P, Blanton, S, Binns, M.M, Holmes, N.G., Forman, O.P., Vaudin, M., Sampson, J, Pettitt, L, Pettitt, L., Mellersh, C.S., Vaudin, M, Barnett, K.C.   +23 more
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Amaurosis congénita de Leber. Reporte de caso

, 2014
ResumenLa amaurosis congénita de Leber es un desorden clínico, genético y heterogéneo caracterizado por una severa pérdida de la visión al nacimiento. Se presenta en un 10 a 18% de los casos de ceguera congénita.
Quintino Cintora, Elizabeth, López Morales, Patricia Marcela, Mendoza Rosas, Vicente   +2 more
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Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis [PDF]

, 2017
Wei Zhang, Linjing Li, Qin Su, Guangping Gao, Hemant Khanna   +4 more
openalex   +1 more source

RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells

, 2010
Guanylate cyclases, GC1 and GC2, are localized in the light-sensitive outer segment compartment of photoreceptor cells, where they play a crucial role in phototransduction by catalyzing the synthesis of cGMP, the second messenger of ...
Laurie L. Molday, Robert S. Molday, Seifollah Azadi   +2 more
core   +1 more source