(Q50488213)

14 March 2018

title

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

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14 March 2018

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Ekaterini T Tsilou

1

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14 March 2018

Benjamin I Rubin

2

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14 March 2018

Rafael C Caruso

3

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14 March 2018

George F Reed

4

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14 March 2018

Anita Pikus

5

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14 March 2018

James F Hejtmancik

6

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14 March 2018

Fumino Iwata

7

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14 March 2018

Joy B Redman

8

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14 March 2018

Muriel I Kaiser-Kupfer

9

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14 March 2018

publication date

1 April 2002

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14 March 2018

published in

Acta Ophthalmologica

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14 March 2018

volume

80

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14 March 2018

issue

2

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14 March 2018

page(s)

196-201

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14 March 2018

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

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1 reference

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

21 January 2018

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

21 January 2018

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Visual acuity and visual field impairment in Usher syndrome.

21 January 2018

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

21 January 2018

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Prevalence of posterior subcapsular lens opacities in patients with retinitis pigmentosa

21 January 2018

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Usher's syndrome. Ophthalmic and neuro-otologic findings suggesting genetic heterogeneity

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1034%2FJ.1600-0420.2002.800215.X

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

21 January 2018

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Retinitis pigmentosa and progressive hearing loss.

21 January 2018

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Usher syndrome: clinical findings and gene localization studies.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Localization of Usher syndrome type II to chromosome 1q.

21 January 2018

1 reference

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Vestibular and Auditory Function in Usher's Syndrome

21 January 2018

1 reference

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Haplotype analysis of the USH1D locus and genotype-phenotype correlations

21 January 2018

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Standard for clinical electroretinography (1999 update). International Society for Clinical Electrophysiology of Vision.

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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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.1600-0420.2002.800215.X

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

21 January 2018

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Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2002.800215.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2002.800215.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2002.800215.X

Defective myosin VIIA gene responsible for Usher syndrome type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2002.800215.X

Narrow-band filtering for monitoring low-amplitude cone electroretinograms in retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2002.800215.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.1600-0420.2002.800215.X

7 January 2021

Prevalence of foveal lesions in type 1 and type 2 Usher's syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2002.800215.X

7 January 2021

Usher syndrome in four Norwegian counties.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2002.800215.X

7 January 2021

Clinical Variation in Usher's Syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2002.800215.X

7 January 2021

Visual acuity loss in patients with Usher's syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2002.800215.X

7 January 2021

Computerized quantitative analysis of kinetic visual fields

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2002.800215.X

7 January 2021

10.1034/J.1600-0420.2002.800215.X

Identifiers

DOI

1 reference

14 March 2018

1 reference

14 March 2018