[HTML][HTML] Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation
K Miyadera, K Kato, J Aguirre-Hernández… - Molecular …, 2009 - ncbi.nlm.nih.gov
Purpose Previously, a 44 bp insertion in exon 2 of retinitis pigmentosa GTPase interacting
protein 1 (RPGRIP1) was identified as the cause of cone-rod dystrophy 1 (cord1), a …
protein 1 (RPGRIP1) was identified as the cause of cone-rod dystrophy 1 (cord1), a …
CRB1-related maculopathy with cystoid macular edema
Y Wolfson, CD Applegate, RW Strauss… - JAMA …, 2015 - jamanetwork.com
Discussion More than 150 disease-associated variants of CRB1 (OMIM# 604210) have
been described to date, including in patients with Leber congenital amaurosis, early-onset …
been described to date, including in patients with Leber congenital amaurosis, early-onset …
[HTML][HTML] Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of …
K Van Schil, M Karlstetter, A Aslanidis… - Scientific reports, 2016 - nature.com
The aim of this study was to unravel the molecular pathogenesis of an unusual retinitis
pigmentosa (RP) phenotype observed in a Turkish consanguineous family. Homozygosity …
pigmentosa (RP) phenotype observed in a Turkish consanguineous family. Homozygosity …
[HTML][HTML] Presence of rd8 mutation does not alter the ocular phenotype of late-onset retinal degeneration mouse model
B Sahu, VRM Chavali, A Alapati, J Suk… - Molecular …, 2015 - ncbi.nlm.nih.gov
Purpose A spontaneous frameshift mutation, c. 3481delC, in the Crb1 gene is the underlying
cause of dysplasia and retinal degeneration in rd8 mice. The rd8 mutation is found in …
cause of dysplasia and retinal degeneration in rd8 mice. The rd8 mutation is found in …
[HTML][HTML] Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse model
SM Weatherly, GB Collin, JR Charette, L Stone… - PLoS …, 2022 - journals.plos.org
Mutations in the apicobasal polarity gene CRB1 lead to diverse retinal diseases, such as
Leber congenital amaurosis, cone-rod dystrophy, retinitis pigmentosa (with and without …
Leber congenital amaurosis, cone-rod dystrophy, retinitis pigmentosa (with and without …
Human CRB1 and CRB2 form homo-and heteromeric protein complexes in the retina
IF Stehle, JA Imventarza, F Woerz… - Life Science …, 2024 - life-science-alliance.org
Crumbs homolog 1 (CRB1) is one of the key genes linked to retinitis pigmentosa and Leber
congenital amaurosis, which are characterized by a high clinical heterogeneity. The Crumbs …
congenital amaurosis, which are characterized by a high clinical heterogeneity. The Crumbs …
A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services
G Nakouzi, K Kreidieh, S Yazbek - Journal of community genetics, 2015 - Springer
The review lists the genetic diseases reported in Lebanese individuals, surveys genetic
programs and services, and highlights the absence of basic genetic health services at the …
programs and services, and highlights the absence of basic genetic health services at the …
Retinal dysfunction in carriers of Bardet-Biedl syndrome
LS Kim, GA Fishman, WH Seiple, JP Szlyk… - Ophthalmic …, 2007 - Taylor & Francis
Purpose: To determine whether retinal dysfunction in obligate carriers of the Bardet-Biedl
syndrome (BBS) could be observed in local electroretinographic responses obtained with …
syndrome (BBS) could be observed in local electroretinographic responses obtained with …
Genetic and clinical heterogeneity in LCA patients: The end of uniformity
MN Preising, K Paunescu, C Friedburg, B Lorenz - Der Ophthalmologe, 2007 - Springer
Background Leber congenital amaurosis (LCA) usually describes patients with severely
reduced vision due to a retinal dystrophy in early childhood. Methods In 135 families in a …
reduced vision due to a retinal dystrophy in early childhood. Methods In 135 families in a …
Leber Congenital Amaurosis: First Genotyped Hungarian Patients and Report of 2 Novel Mutations in the CRB1 and CEP290 Genes
R Vámos, M Külm, V Szabó, A Ahman… - European Journal …, 2016 - journals.sagepub.com
Purpose To introduce the first Hungarian patients with genetically defined Leber congenital
amaurosis (LCA) and to report 2 novel mutations. Methods Seven otherwise healthy patients …
amaurosis (LCA) and to report 2 novel mutations. Methods Seven otherwise healthy patients …