(Q37004704)

17 August 2017

0 references

MYO7A mutation screening in Usher syndrome type I patients from diverse origins (English)

1 reference

17 August 2017

1 reference

T Jaijo

1

1 reference

17 August 2017

E Aller

2

1 reference

17 August 2017

M Beneyto

3

1 reference

17 August 2017

C Najera

4

1 reference

17 August 2017

C Graziano

5

1 reference

17 August 2017

D Turchetti

6

1 reference

17 August 2017

M Seri

7

1 reference

17 August 2017

C Ayuso

8

1 reference

17 August 2017

M Baiget

9

1 reference

17 August 2017

F Moreno

10

1 reference

17 August 2017

C Morera

11

1 reference

17 August 2017

H Perez-Garrigues

12

1 reference

17 August 2017

J M Millan

13

1 reference

17 August 2017

language of work or name

English

0 references

publication date

1 March 2007

1 reference

Journal of Medical Genetics

17 August 2017

1 reference

17 August 2017

44

1 reference

17 August 2017

3

1 reference

17 August 2017

e71

1 reference

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%

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598023

USH1A: chronicle of a slow death

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598023

Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598023

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598023

Interactions in the network of Usher syndrome type 1 proteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598023

The molecular genetics of Usher syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598023

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598023

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598023

Linkage analysis in Usher syndrome type I (USH1) families from Spain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598023

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598023

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598023

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598023

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598023

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598023

The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598023

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598023

Defective myosin VIIA gene responsible for Usher syndrome type 1B

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598023

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598023

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598023

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598023

Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598023

Actin-based motor properties of native myosin VIIa

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598023

Identification of three novel mutations in the MYO7A gene.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598023

Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598023

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

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17361009

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17361009

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2006.045377

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

17361009

1 reference