Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome (Q28553815)

2

object named as

Amel Bahloul

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Crystel Bonnet

object named as

Crystel Bonnet

14

0 references

Jean-Pierre Hardelin

4

object named as

Jean-Pierre Hardelin

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author name string

Samia Abdi

1

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Asma Behlouli

3

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Mohamed Makrelouf

5

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Kamel Boudjelida

6

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Malek Louha

7

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Ahmed Cheknene

8

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Rachid Belouni

9

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Yahia Rous

10

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Zahida Merad

11

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Djamel Selmane

12

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Mokhtar Hasbelaoui

13

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Akila Zenati

Creative Commons Attribution 4.0 International

15

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language of work or name

English

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publication date

2016

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published in

PLOS One

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volume

11

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issue

9

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page(s)

e0161893

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copyright license

start time

1 September 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins

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A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

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Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%

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Interactions in the network of Usher syndrome type 1 proteins

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Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II

19 March 2017

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

19 March 2017

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

19 March 2017

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

19 March 2017

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

19 March 2017

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

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

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

19 March 2017

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

19 March 2017

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Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients

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An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

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Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing

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Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients

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Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis

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Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

29 September 2017

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Usher syndrome: an otoneurologic study

3 June 2018

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Crossref

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Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

21 January 2018

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10.1371/JOURNAL.PONE.0161893

21 January 2018

Identifiers

DOI

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release_46b7zybw55agvgpv3n6isxrejq

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Fatcat

https://api.fatcat.wiki/v0/release/46b7zybw55agvgpv3n6isxrejq

mapped directly with Wikidata item

24 November 2022

based on heuristic

3760238

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3760238

PubMed publication ID

27583663

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