(Q34386120)

1 August 2017

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population (English)

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1 August 2017

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Xiao Mei Ouyang

1

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1 August 2017

Denise Yan

2

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1 August 2017

Li Lin Du

3

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1 August 2017

J Fielding Hejtmancik

4

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1 August 2017

Samuel G Jacobson

5

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1 August 2017

Walter E Nance

6

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1 August 2017

An Ren Li

7

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1 August 2017

Simon Angeli

8

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1 August 2017

Muriel Kaiser

9

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1 August 2017

Valerie Newton

10

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1 August 2017

Steve D M Brown

11

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1 August 2017

Thomas Balkany

12

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1 August 2017

Xue Zhong Liu

13

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1 August 2017

20 January 2005

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1 August 2017

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1 August 2017

116

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1 August 2017

4

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1 August 2017

292-299

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https://scigraph.springernature.com/pub.10.1007/s00439-004-1227-2

1 August 2017

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cites work

Usher syndrome: definition and estimate of prevalence from two high-risk populations

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12 December 2020

USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele.

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12 December 2020

Genetic heterogeneity of Usher syndrome type 1 in French families.

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12 December 2020

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.

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12 December 2020

Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I

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12 December 2020

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

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12 December 2020

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

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12 December 2020

Defective myosin VIIA gene responsible for Usher syndrome type 1B

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12 December 2020

Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis

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12 December 2020

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

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12 December 2020

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

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12 December 2020

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12 December 2020

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

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12 December 2020

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

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12 December 2020

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23

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12 December 2020

The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions

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12 December 2020

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

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12 December 2020

Usher's syndrome--deafness and progressive blindness. Clinical cases, prevention, theory and literature survey

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12 December 2020

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

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12 December 2020

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23

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12 December 2020

The importance of being proline: the interaction of proline-rich motifs in signaling proteins with their cognate domains

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12 December 2020

Recent progress in protocadherin research

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12 December 2020

Unconventional myosins: new frontiers in actin-based motors.

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12 December 2020

Clinical and molecular genetics of Usher syndrome.

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12 December 2020

Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

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12 December 2020

The molecular genetics of Usher syndrome

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12 December 2020

Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia

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12 December 2020

The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK

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12 December 2020

Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients

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12 December 2020

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

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12 December 2020

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

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12 December 2020

10.1007/S00439-004-1227-2

Identifiers

DOI

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Dimensions Publication ID

1 August 2017

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