MYO7A mutation screening in Usher syndrome type I patients from diverse origins. - Test2 - elhamkhani - TriplyDB

MYO7A mutation screening in Usher syndrome type I patients from diverse origins.

MYO7A mutation screening in Usher syndrome type I patients from diverse origins.

http://www.wikidata.org/entity/Q37004704

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Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss Novel mutations in the USH1C gene in Usher syndrome patients.Inner ear morphology is perturbed in two novel mouse models of recessive deafness.Targeted next generation sequencing for molecular diagnosis of Usher syndrome.Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases.Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1 An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients Gene expression profiling of rubella virus infected primary endothelial cells of fetal and adult origin.The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome.Characterization of a myosin VII MyTH/FERM domain.Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.Identification of a novel MYO7A mutation in Usher syndrome type 1.Functional analysis of splicing mutations in MYO7A and USH2A genes.A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies

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MYO7A mutation screening in Usher syndrome type I patients from diverse origins.

http://www.wikidata.org/entity/Q37004704

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article científic

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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 March 2007

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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

MYO7A mutation screening in Usher syndrome type I patients from diverse origins.

@en

MYO7A mutation screening in Usher syndrome type I patients from diverse origins.

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type

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MYO7A mutation screening in Usher syndrome type I patients from diverse origins.

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MYO7A mutation screening in Usher syndrome type I patients from diverse origins.

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prefLabel

MYO7A mutation screening in Usher syndrome type I patients from diverse origins.

@en

MYO7A mutation screening in Usher syndrome type I patients from diverse origins.

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JMG.2006.045377

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Journal of Medical Genetics

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MYO7A mutation screening in Usher syndrome type I patients from diverse origins.

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C Ayuso

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C Graziano

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P2860

Defective myosin VIIA gene responsible for Usher syndrome type 1B

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%

Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome

USH1A: chronicle of a slow death

Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B

Usher syndrome in the city of Birmingham--prevalence and clinical classification

Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene

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