(Q34405611)

2 August 2017

title

Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures (English)

1 reference

2 August 2017

1 reference

Emmanouil Athanasakis

Emmanouil Athanasakis

8

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Francesca Simonelli

Francesca Simonelli

13

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Vincenzo Nigro

Vincenzo Nigro

18

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Hans Scheffer

Hans Scheffer

15

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Diego Vozzi

Diego Vozzi

7

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Sandro Banfi

Sandro Banfi

17

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author name string

Danilo Licastro

1

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2 August 2017

Margherita Mutarelli

2

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2 August 2017

Ivana Peluso

3

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2 August 2017

Kornelia Neveling

4

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2 August 2017

Nienke Wieskamp

5

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2 August 2017

Rossella Rispoli

6

1 reference

2 August 2017

Angela D'Eustacchio

9

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2 August 2017

Mariateresa Pizzo

10

1 reference

2 August 2017

Francesca D'Amico

11

1 reference

2 August 2017

Carmela Ziviello

12

1 reference

2 August 2017

Antonella Fabretto

14

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2 August 2017

Paolo Gasparini

16

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2 August 2017

language of work or name

English

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publication date

29 August 2012

1 reference

2 August 2017

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2 August 2017

volume

7

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2 August 2017

issue

8

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2 August 2017

page(s)

e43799

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Creative Commons Attribution 4.0 International

2 August 2017

copyright license

start time

29 August 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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6 July 2018

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

6 July 2018

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6 July 2018

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Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology

6 July 2018

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6 July 2018

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6 July 2018

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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

6 July 2018

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Analysis of genetic inheritance in a family quartet by whole-genome sequencing

6 July 2018

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Exome sequencing identifies the cause of a mendelian disorder

6 July 2018

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Enabling technologies of genomic-scale sequence enrichment for targeted high-throughput sequencing

6 July 2018

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Targeted capture and massively parallel sequencing of 12 human exomes

6 July 2018

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Detection of single nucleotide variations in expressed exons of the human genome using RNA-Seq

6 July 2018

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The Sequence Alignment/Map format and SAMtools

6 July 2018

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Fast and accurate short read alignment with Burrows-Wheeler transform

6 July 2018

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Evaluation of next generation sequencing platforms for population targeted sequencing studies

6 July 2018

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Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers

6 July 2018

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Applications of next-generation sequencing technologies in functional genomics

6 July 2018

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Next-generation sequencing transforms today's biology

6 July 2018

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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

6 July 2018

1 reference

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Development of a genotyping microarray for Usher syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

Genome sequencing in microfabricated high-density picolitre reactors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

Genetic heterogeneity of Usher syndrome type II in a Dutch population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

Defective myosin VIIA gene responsible for Usher syndrome type 1B

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

Usher syndrome: an otoneurologic study.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

Molecular epidemiology of Usher syndrome in Italy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

DNA sequence capture and enrichment by microarray followed by next-generation sequencing for targeted resequencing: neurofibromatosis type 1 gene as a model

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

Kinetics of visual field loss in Usher syndrome Type II.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

Prevalence and geographical distribution of Usher syndrome in Germany.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

Epidemiology of Usher Syndrome in Valencia and Spain

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430670

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

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22952768

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0043799

1 reference

2 August 2017

0 references

1 reference

2 August 2017

1 reference