(Q44883231)

7 December 2017

title

Haplotype analysis of the USH1D locus and genotype-phenotype correlations (English)

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7 December 2017

Liu XZ

1

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7 December 2017

Blanton SH

2

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7 December 2017

Bitner-Glindzicz M

3

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7 December 2017

Pandya A

4

1 reference

7 December 2017

Landa B

5

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7 December 2017

MacArdle B

6

1 reference

7 December 2017

Rajput K

7

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7 December 2017

Bellman S

8

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7 December 2017

Webb BT

9

1 reference

7 December 2017

Ping X

10

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7 December 2017

Smith RJ

11

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7 December 2017

Nance WE

12

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7 December 2017

publication date

1 July 2001

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7 December 2017

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7 December 2017

volume

60

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7 December 2017

issue

1

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7 December 2017

page(s)

58-62

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

7 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600109.X

7 January 2021

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600109.X

7 January 2021

Defective myosin VIIA gene responsible for Usher syndrome type 1B

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600109.X

7 January 2021

Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600109.X

7 January 2021

Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600109.X

7 January 2021

A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600109.X

7 January 2021

10.1034/J.1399-0004.2001.600109.X

Identifiers

DOI

1 reference

7 December 2017

1 reference