(Q36761749)

16 August 2017

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title

The changing face of Usher syndrome: clinical implications (English)

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16 August 2017

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Maria Bitner-Glindzicz

series ordinal

2

object named as

Maria Bitner-Glindzicz

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16 August 2017

3

Linda Luxon

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16 August 2017

Mazal Cohen

1

1 reference

16 August 2017

language of work or name

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1 February 2007

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International Journal of Audiology

16 August 2017

number of pages

12

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based on heuristic

inferred from page(s)

published in

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16 August 2017

volume

46

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16 August 2017

issue

2

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16 August 2017

page(s)

82-93

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

16 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Interactions in the network of Usher syndrome type 1 proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Searching for evidence of DFNB2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Molecular genetics of Usher syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

USH1A: chronicle of a slow death

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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/10.1080%2F14992020600975279

Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Identification of the mouse and rat orthologs of the gene mutated in Usher syndrome type IIA and the cellular source of USH2A mRNA in retina, a target tissue of the disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Kinetics of visual field loss in Usher syndrome Type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Vestibular and Auditory Function in Usher's Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Genetic heterogeneity of Usher syndrome type 1 in French families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Usher syndrome and cochlear implantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Usher's syndrome type IC: clinical studies and fine-mapping the disease locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Mutational spectrum in Usher syndrome type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Usher's syndrome type 3 in Finland

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

The ophthalmological course of Usher syndrome type III.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Audiologic performance and benefit of cochlear implantation in Usher syndrome type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Usher syndrome type III can mimic other types of Usher syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Hearing impairment in Usher syndrome type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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/10.1080%2F14992020600975279

Serial audiometry and speech recognition findings in Finnish Usher syndrome type III patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Visual impairment in Finnish Usher syndrome type III.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Hearing loss in Usher syndrome type II is nonprogressive

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Comparative study of visual, auditory, and olfactory function in Usher syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Cadherin 23 is a component of the tip link in hair-cell stereocilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Clinical variability and genetic heterogeneity within the Acadian Usher population

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Prevalence and geographical distribution of Usher syndrome in Germany

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Ophthalmologic findings in Usher syndrome type 2A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Defective myosin VIIA gene responsible for Usher syndrome type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

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/10.1080%2F14992020600975279

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/10.1080%2F14992020600975279

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

Epidemiology of Usher Syndrome in Valencia and Spain

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F14992020600975279

10.1080/14992020600975279

21 January 2018

Identifiers

DOI

1 reference

16 August 2017

1 reference