(Q50356396)

6 March 2018

title

Expressivity of hearing loss in cases with Usher syndrome type IIA. (English)

1 reference

6 March 2018

1 reference

1 reference

André M Sadeghi

1

1 reference

6 March 2018

Edward S Cohn

2

1 reference

6 March 2018

William J Kimberling

3

1 reference

6 March 2018

Glenn Halvarsson

4

1 reference

6 March 2018

Claes Möller

5

1 reference

6 March 2018

publication date

28 October 2013

1 reference

6 March 2018

International Journal of Audiology

number of pages

6

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

6 March 2018

volume

52

1 reference

6 March 2018

issue

12

1 reference

6 March 2018

page(s)

832-837

1 reference

6 March 2018

Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.

cites work

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2013.839885

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2013.839885

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/10.3109%2F14992027.2013.839885

A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2013.839885

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2013.839885

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2013.839885

Identification of novel USH2A mutations: implications for the structure of USH2A protein

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2013.839885

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2013.839885

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/10.3109%2F14992027.2013.839885

Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2013.839885

A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2013.839885

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2013.839885

Genetic heterogeneity of Usher syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2013.839885

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2013.839885

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2013.839885

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2013.839885

Mutational spectrum in Usher syndrome type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2013.839885

Usherin expression is highly conserved in mouse and human tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2013.839885

Pure tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2013.839885

USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2013.839885

Audiological findings in Usher syndrome types IIa and II (non-IIa).

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2013.839885

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2013.839885

Prevalence and geographical distribution of Usher syndrome in Germany

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2013.839885

Hearing impairment related to age in Usher syndrome types 1B and 2A.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2013.839885

Stable and progressive hearing loss in type 2A Usher's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2013.839885

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F14992027.2013.839885

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/10.3109%2F14992027.2013.839885

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/10.3109%2F14992027.2013.839885

10.3109/14992027.2013.839885

21 January 2018

Identifiers

DOI

1 reference

6 March 2018

1 reference

6 March 2018