(Q35074263)

6 August 2017

title

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis (English)

1 reference

6 August 2017

1 reference

38

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Jean Weissenbach

39

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Diana Zelenika

8

Diana Zelenika

1 reference

6 August 2017

37

Mark Lathrop

1 reference

6 August 2017

Crystel Bonnet

1

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Aziz El-Amraoui

Aziz El-Amraoui

12

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Dominique Bonneau

Dominique Bonneau

22

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Christine Petit

Christine Petit

40

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Didier Lacombe

Didier Lacombe

28

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Jean-Pierre Hardelin

5

Jean-Pierre Hardelin

1 reference

6 August 2017

13

Dominique Weil

1 reference

6 August 2017

3

Sandrine Marlin

1 reference

6 August 2017

Valérie Drouin-Garraud

30

Valérie Drouin-Garraud

1 reference

6 August 2017

41

Françoise Denoyelle

1 reference

6 August 2017

M'hamed Grati

2

1 reference

6 August 2017

Jacqueline Levilliers

4

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6 August 2017

Marine Parodi

6

1 reference

6 August 2017

Magali Niasme-Grare

7

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6 August 2017

Marc Délépine

9

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6 August 2017

Delphine Feldmann

10

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6 August 2017

Laurence Jonard

11

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6 August 2017

Bruno Delobel

14

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6 August 2017

Christophe Vincent

15

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6 August 2017

Hélène Dollfus

16

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6 August 2017

Marie-Madeleine Eliot

17

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6 August 2017

Albert David

18

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6 August 2017

Catherine Calais

19

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6 August 2017

Jacqueline Vigneron

20

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6 August 2017

Bettina Montaut-Verient

21

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6 August 2017

Jacques Dubin

23

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6 August 2017

Christel Thauvin

24

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6 August 2017

Alain Duvillard

25

1 reference

6 August 2017

Christine Francannet

26

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6 August 2017

Thierry Mom

27

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6 August 2017

Françoise Duriez

29

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6 August 2017

Marie-Françoise Thuillier-Obstoy

31

1 reference

6 August 2017

Sabine Sigaudy

32

1 reference

6 August 2017

Anne-Marie Frances

33

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6 August 2017

Patrick Collignon

34

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6 August 2017

Georges Challe

35

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6 August 2017

Rémy Couderc

36

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6 August 2017

publication date

11 May 2011

1 reference

Orphanet Journal of Rare Diseases

6 August 2017

published in

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6 August 2017

volume

6

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6 August 2017

page(s)

21

1 reference

https://scigraph.springernature.com/pub.10.1186/1750-1172-6-21

6 August 2017

exact match

0 references

cites work

Regulation of PCDH15 function in mechanosensory hair cells by alternative splicing of the cytoplasmic domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Targeting of the hair cell proteins cadherin 23, harmonin, myosin XVa, espin, and prestin in an epithelial cell model.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Structural determinants of cadherin-23 function in hearing and deafness

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Vision 1 year after gene therapy for Leber's congenital amaurosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Identification of candidate regions for a novel Usher syndrome type II locus

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Development of a genotyping microarray for Usher syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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%

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

USH1A: chronicle of a slow death

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Protocadherin 15 (PCDH15): a new secreted isoform and a potential marker for NK/T cell lymphomas

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Interactions in the network of Usher syndrome type 1 proteins

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

The first tunicate from the Early Cambrian of South China

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

The human genome browser at UCSC

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Defective myosin VIIA gene responsible for Usher syndrome type 1B

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

8 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-21

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-21

Novel mutations in MYO7A and USH2A in Usher syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-21

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/10.1186%2F1750-1172-6-21

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-21

An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-21

Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-21

Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-21

Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3125325

Identification of three novel mutations in the MYO7A gene

27 September 2018

1 reference

12 December 2020

The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I

1 reference

12 December 2020

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients

1 reference

12 December 2020

Case 15-2009: a man with coma after cardiac arrest

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-6-21

1 reference

Dimensions Publication ID

6 August 2017

0 references

1 reference

6 August 2017

1 reference