Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration
about
Effective filtering strategies to improve data quality from population-based whole exome sequencing studies.Adaptive optics retinal imaging--clinical opportunities and challengesRelationship between foveal cone structure and clinical measures of visual function in patients with inherited retinal degenerationsOcular Phenotype of a Family with FAM161A-associated Retinal DegenerationWhole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.Correlation of outer nuclear layer thickness with cone density values in patients with retinitis pigmentosa and healthy subjects.Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.Assessment of Different Sampling Methods for Measuring and Representing Macular Cone Density Using Flood-Illuminated Adaptive OpticsIdentification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophyClinical characteristics of early retinal disease due to CDHR1 mutation.Next-generation sequencing applied to rare diseases genomics.Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree.Molecular basis for photoreceptor outer segment architecture.CDHR1 mutations in retinal dystrophies.Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent.A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.A mutation in IFT43 causes non-syndromic recessive retinal degeneration.High-resolution Imaging in Male Germ Cell-Associated Kinase (MAK)-related Retinal Degeneration.A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.Exome sequencing of a large family identifies potential candidate genes contributing risk to bipolar disorder.Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature.
P2860
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P2860
Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on October 2012
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Identification of a novel muta ...... recessive retinal degeneration
@en
Identification of a novel muta ...... ecessive retinal degeneration.
@nl
type
label
Identification of a novel muta ...... recessive retinal degeneration
@en
Identification of a novel muta ...... ecessive retinal degeneration.
@nl
prefLabel
Identification of a novel muta ...... recessive retinal degeneration
@en
Identification of a novel muta ...... ecessive retinal degeneration.
@nl
P2093
P2860
P1433
P1476
Identification of a novel muta ...... recessive retinal degeneration
@en
P2093
Austin Roorda
Harini V Gudiseva
Jacque L Duncan
Kavitha Ratnam
Mili Navani
Pauline Lee
Radha Ayyagari
Reema Syed
Sangeetha Vishweswaraiah
P2860
P304
P356
10.1001/ARCHOPHTHALMOL.2012.1906
P407
P577
2012-10-01T00:00:00Z