CLRN1 mutations cause nonsyndromic retinitis pigmentosa.
about
Retinal dystrophies, genomic applications in diagnosis and prospects for therapyMutations in POMGNT1 cause non-syndromic retinitis pigmentosaMutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementHomozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.Endoplasmic reticulum stress and the unfolded protein responses in retinal degeneration.Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencingGenes and mutations causing retinitis pigmentosa.Cone structure in patients with usher syndrome type III and mutations in the Clarin 1 gene.Genetic disorders of the vestibular system.Involvement of Endoplasmic Reticulum Stress in TULP1 Induced Retinal Degeneration.Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial casesPathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosaIdentification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis PigmentosaThe molecular basis of retinal dystrophies in pakistan.Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.Gene panel sequencing in Brazilian patients with retinitis pigmentosa.
P2860
Q26770321-DDF9486C-E79A-4CDA-B648-9551F97FD1F2Q28115096-F4C2ADD4-85EB-4995-9124-0368E9A62D78Q29147474-934D5AFC-9A56-463B-B2A4-3FD1CCDDD1F4Q30389304-F4463976-C77B-413F-848F-F92FAF6A938BQ33944376-0B265DBC-A1A4-425E-86BC-514EE0E6A2D5Q34005691-A93D639D-6742-4C19-90F2-A97CC68D43FAQ34166178-1223CA7E-2AC4-4BA8-BAA7-51A0CCCCA580Q34346276-DEF397A7-B306-4A00-B41E-6A75BDC71B5AQ34410659-32E09CFB-9896-4409-8B69-945FA508031AQ35133047-1B844B7F-48FB-4189-BD6A-72036EF8F01DQ35961308-8FEF089C-3F56-45D4-A66C-177492FCAA67Q36511585-DBDE179C-8F89-4954-84A9-DAD368B41E8EQ36989961-D69F3086-A69D-45D0-AB09-59609206953BQ37101463-B56C73BA-0CC9-4EF4-8F35-B1392BA868E2Q37288056-3CA4DCAD-9ECC-4A8E-A59B-1C741301241AQ37335630-3374687D-3A21-4504-BB50-E75A916DC4B5Q37689840-FD22D266-A816-49E5-B3C6-F94168B323A2Q41328140-87B3A854-98BE-4A61-A2CF-62E1E6FC4BAEQ42267886-13FCA47F-778E-4EA7-A92F-4C292724A409Q53155688-36C3A039-E042-4863-8C47-D1AE539A9287Q55056735-6542DFA3-7A90-4A7E-A3D2-C3FA6D38AE67
P2860
CLRN1 mutations cause nonsyndromic retinitis pigmentosa.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 18 February 2011
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
CLRN1 mutations cause nonsyndromic retinitis pigmentosa.
@en
CLRN1 mutations cause nonsyndromic retinitis pigmentosa.
@nl
type
label
CLRN1 mutations cause nonsyndromic retinitis pigmentosa.
@en
CLRN1 mutations cause nonsyndromic retinitis pigmentosa.
@nl
prefLabel
CLRN1 mutations cause nonsyndromic retinitis pigmentosa.
@en
CLRN1 mutations cause nonsyndromic retinitis pigmentosa.
@nl
P2093
P1433
P1476
CLRN1 mutations cause nonsyndromic retinitis pigmentosa.
@en
P2093
Alamdar Hussain
Anneke I den Hollander
Ferry F J Kersten
Frans P M Cremers
Hannie Kremer
Jan E E Keunen
Maleeha Azam
Muhammad Imran Khan
Raheel Qamar
Rob W J Collin
P304
P356
10.1016/J.OPHTHA.2010.10.047
P577
2011-02-18T00:00:00Z