Results 91 to 100 of about 266,209 (210)

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

, 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
core   +1 more source

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.

PLoS ONE, 2018
Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies (IRD) and the most frequent cause of inherited blindness in children.
Nicole Weisschuh, Britta Feldhaus, Muhammad Imran Khan, Frans P M Cremers, Susanne Kohl, Bernd Wissinger, Ditta Zobor   +6 more
doaj   +1 more source

Gene therapy for Leber congenital amaurosis: advances and future directions

, 2012
Leber congenital amaurosis (LCA) is a congenital retinal dystrophy that results in significant and often severe vision loss at an early age. Comprehensive analysis of the genetic mutations and phenotypic correlations in LCA patients has allowed for ...
Ahmed, Zubair M., Hufnagel, Robert B., Correa, Zelia M., Sisk, Robert A.   +3 more
core   +1 more source

Amaurosis congénita de Leber. Reporte de caso [PDF]

, 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
core   +1 more source

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  

RDH12, a retinol dehydrogenase causing Leber's congenital amaurosis, is also involved in steroid metabolism.

, 2007
Three retinol dehydrogenases (RDHs) were tested for steroid converting abilities: human and murine RDH 12 and human RDH13. RDH12 is involved in retinal degeneration in Leber's congenital amaurosis (LCA).
Adamski, J., Keller, B.
core   +1 more source

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

, 2012
International audienceIn addition to its activity in nicotinamide adenine dinucleotide (NAD+) synthesis, the nuclear nicotinamide mononucleotide adenyltransferase NMNAT1 acts as a chaperone that protects against neuronal activity–induced degeneration ...
Hanein, Sylvain, Defoort-Delhemmes, Sabine, Nicouleau, Michaël, Kaplan, Josseline, Goldenberg, Alice, Calvas, Patrick, Rozet, Jean-Michel, Le Meur, Gylène, Hamel, Christian, Silva, Eduardo, Gerber, Sylvie, Nitschké, Patrick, Serre, Valérie, Delphin, Nathalie, Duncombe, Alice, Edelson, Catherine, Zanlonghi, Xavier, Xerri, Olivia, Dollfus, Hélène, Fares-Taie, Lucas, Munnich, Arnold, Roche, Olivier, Perrault, Isabelle   +22 more
core   +1 more source

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
core   +2 more sources

Leber congenital amaurosis in siblings with diffuse dysmyelination

, 1991
Two brothers are described with the previously unrecognized combination of Leber amaurosis and abnormal myelin detected by magnetic resonance imaging. Both have evidence of delayed psychomotor development and one has autistic features.
Flynn, John T, Curless, Richard G, Olsen, Karl R, Judith Post, M   +3 more
core   +1 more source

Novel GUCY2D Splicing Variants in Kurdish Leber Congenital Amaurosis Patients in Iraq

ARO-The Scientific Journal of Koya University
The current study examines the single-nucleotide polymorphism of the GUCY2D gene in blind patients with inherited Leber congenital amaurosis (LCA) from a molecular, medical, and genetic perspective.
Hozan I. Rwandzy, Hazha J. Hidayat
doaj   +1 more source