(Q50473750)

14 March 2018

title

Novel mutations in MYO7A and USH2A in Usher syndrome. (English)

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14 March 2018

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Cécilia Maubaret

1

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14 March 2018

Jean-Michel Griffoin

series ordinal

2

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14 March 2018

Bernard Arnaud

series ordinal

3

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14 March 2018

Christian Hamel

series ordinal

4

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14 March 2018

publication date

1 March 2005

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14 March 2018

published in

Ophthalmic Genetics

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14 March 2018

volume

26

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14 March 2018

issue

1

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14 March 2018

page(s)

25-29

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14 March 2018

Defective myosin VIIA gene responsible for Usher syndrome type 1B

cites work

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918118

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918118

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918118

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918118

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918118

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918118

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918118

Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918118

Spectrum of mutations in USH2A in British patients with Usher syndrome type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918118

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918118

Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918118

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918118

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918118

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918118

Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918118

Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918118

Usher syndrome: from genetics to pathogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918118

A common ancestral origin of the frequent and widespread 2299delG USH2A mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918118

10.1080/13816810590918118

21 January 2018

Identifiers

DOI

1 reference

14 March 2018

1 reference

14 March 2018