(Q41838262)

13 October 2017

Molecular epidemiology of Usher syndrome in Italy (English)

1 reference

13 October 2017

0 references

1 reference

2

Anu Aaspõllu

1 reference

13 October 2017

Diego Vozzi

1

1 reference

13 October 2017

Emmanouil Athanasakis

3

1 reference

13 October 2017

Anna Berto

4

1 reference

13 October 2017

Antonella Fabretto

5

1 reference

13 October 2017

Danilo Licastro

6

1 reference

13 October 2017

Maigi Külm

7

1 reference

13 October 2017

Francesco Testa

8

1 reference

13 October 2017

Patrizia Trevisi

9

1 reference

13 October 2017

Marju Vahter

10

1 reference

13 October 2017

Carmela Ziviello

11

1 reference

13 October 2017

Alessandro Martini

12

1 reference

13 October 2017

Francesca Simonelli

13

1 reference

13 October 2017

Sandro Banfi

14

1 reference

13 October 2017

Paolo Gasparini

15

1 reference

13 October 2017

22 June 2011

1 reference

13 October 2017

1 reference

13 October 2017

17

1 reference

13 October 2017

1662-1668

1 reference

Impacts of Usher syndrome type IB mutations on human myosin VIIa motor function

13 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

Development of a genotyping microarray for Usher syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

Evaluating the arrayed primer extension resequencing assay of TP53 tumor suppressor gene

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

Genetic heterogeneity of Usher syndrome type II in a Dutch population

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

Multiplex, fluorescent, solid-phase minisequencing for efficient screening of DNA sequence variation.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

A type VII myosin encoded by the mouse deafness gene shaker-1

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

Defective myosin VIIA gene responsible for Usher syndrome type 1B

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

Usher syndrome: an otoneurologic study.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

Kinetics of visual field loss in Usher syndrome Type II.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

Prevalence and geographical distribution of Usher syndrome in Germany.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

Epidemiology of Usher Syndrome in Valencia and Spain

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130723

Mutation detection by solid phase primer extension

2 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21738395

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

13 October 2017

1 reference