(Q38413279)

2 September 2017

Clinical utility gene card for: Usher syndrome (English)

1 reference

2 September 2017

1 reference

Hanno J Bolz

1

1 reference

2 September 2017

Anne-Françoise Roux

series ordinal

2

1 reference

2 September 2017

9 March 2011

1 reference

European Journal of Human Genetics

2 September 2017

1 reference

2 September 2017

19

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2 September 2017

8

1 reference

2 September 2017

857-864

1 reference

Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness

2 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172919

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172919

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172919

6 September 2017

Update on Usher syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172919

PTC124 targets genetic disorders caused by nonsense mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172919

Development of a genotyping microarray for Usher syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172919

Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172919

Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172919

A genetic analysis of retinitis pigmentosa

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3172919

6 September 2017

Identifiers

DOI

10.1038/EJHG.2011.15

1 reference

Dimensions Publication ID

2 September 2017

0 references

1 reference

2 September 2017

PubMed publication ID

21697857

1 reference