(Q34202837)

31 July 2017

1 reference

title

The molecular genetics of Usher syndrome (English)

1 reference

31 July 2017

1 reference

1 reference

Ahmed ZM

1

1 reference

31 July 2017

Riazuddin S

series ordinal

2

1 reference

31 July 2017

Riazuddin S

series ordinal

3

1 reference

31 July 2017

Wilcox ER

series ordinal

4

1 reference

31 July 2017

1 June 2003

1 reference

31 July 2017

1 reference

31 July 2017

63

1 reference

31 July 2017

431-444

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31 July 2017

6

1 reference

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

31 July 2017

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

The roles of unconventional myosins in hearing and deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

Isoforms of the human PDZ-73 protein exhibit differential tissue expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

Changes in the aetiology of hearing impairment in deaf-blind pupils and deaf infant pupils at an institute for the deaf.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Visual impairment in severe and profound sensorineural deafness

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Ocular abnormalities in deaf children: a discussion of deafness and retinal pigment changes.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

The hereditary syndrome of congenital deafness and retinitis pigmentosa. (Usher's syndrome)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Prevalence of retinitis pigmentosa and allied disorders in Denmark. II. Systemic involvement and age at onset

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

The epidemiology of retinitis pigmentosa in Denmark

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Epidemiology of the UK population of hearing-impaired children, including characteristics of those with and without cochlear implants--audiology, aetiology, comorbidity and affluence.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Genetic epidemiological studies of early-onset deafness in the U.S. school-age population

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Usher syndrome clinical types I and II: could ocular symptoms and signs differentiate between the two types?

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

A new clinical classification for Usher's syndrome based on a new subtype of Usher's syndrome type I.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Localization of Usher syndrome type II to chromosome 1q.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Localization of two genes for Usher syndrome type I to chromosome 11.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Modifier genes of hereditary hearing loss

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.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.1399-0004.2003.00109.X

7 January 2021

A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Defective myosin VIIA gene responsible for Usher syndrome type 1B

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.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.1399-0004.2003.00109.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.1399-0004.2003.00109.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.1399-0004.2003.00109.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.1399-0004.2003.00109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.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.1399-0004.2003.00109.X

7 January 2021

A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.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.1399-0004.2003.00109.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.1399-0004.2003.00109.X

7 January 2021

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

From DFNB2 to Usher syndrome: variable expressivity of the same disease.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Searching for evidence of DFNB2.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Reverse genetic approaches to cloning deafness genes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

A type VII myosin encoded by the mouse deafness gene shaker-1

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.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.1399-0004.2003.00109.X

7 January 2021

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Unconventional myosins and the genetics of hearing loss

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Unconventional myosins in cell movement, membrane traffic, and signal transduction

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Usher syndrome: from genetics to pathogenesis.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

PDZ domains and the organization of supramolecular complexes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Protein modules as organizers of membrane structure

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

PDZ domains: fundamental building blocks in the organization of protein complexes at the plasma membrane

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

A major gene affecting age-related hearing loss in C57BL/6J mice

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

mdfw: a deafness susceptibility locus that interacts with deaf waddler (dfw)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

High-resolution genetic and physical mapping of modifier-of-deafwaddler (mdfw) and Waltzer (Cdh23v).

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

C-cadherin ectodomain structure and implications for cell adhesion mechanisms

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Expression of Pcdh15 in the inner ear, nervous system and various epithelia of the developing embryo.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Severe vestibular and auditory impairment in three alleles of Ames waltzer (av) mice

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

The construction of a yeast artificial chromosome (YAC) contig in the vicinity of the Usher syndrome type IIa (USH2A) gene in 1q41.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.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.1399-0004.2003.00109.X

7 January 2021

Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

A gene for Usher syndrome type I (USH1A) maps to chromosome 14q

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Identification of three novel mutations in the MYO7A gene.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00109.X

7 January 2021

10.1034/J.1399-0004.2003.00109.X

Identifiers

DOI

1 reference

31 July 2017

1 reference