(Q35117928)

24618850

6 August 2017

title

Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1 (English)

1 reference

24618850

6 August 2017

main subject

Usher syndrome type 1

1 reference

1 reference

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24618850%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

16

Shin-Ichi Usami

1 reference

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9 June 2020

4

Kozo Kumakawa

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24618850%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

11

Yasushi Naito

1 reference

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9 June 2020

5

Tetsuya Tono

1 reference

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9 June 2020

1

Hidekane Yoshimura

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24618850%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

8

Kyoko Nagai

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24618850%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

10

Tetsuo Ikezono

1 reference

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9 June 2020

12

Kunihiro Fukushima

1 reference

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9 June 2020

13

Chie Oshikawa

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24618850%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

author name string

Satoshi Iwasaki

2

1 reference

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9 June 2020

Yumiko Kobayashi

6

1 reference

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9 June 2020

Hiroaki Sato

7

1 reference

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9 June 2020

Kotaro Ishikawa

9

1 reference

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9 June 2020

Takashi Kimitsuki

14

1 reference

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9 June 2020

Hiroshi Nakanishi

15

1 reference

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9 June 2020

language of work or name

English

0 references

publication date

11 March 2014

1 reference

6 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24618850%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

9

1 reference

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9 June 2020

issue

3

1 reference

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9 June 2020

page(s)

e90688

1 reference

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Creative Commons Attribution 4.0 International

9 June 2020

copyright license

start time

11 March 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

wANNOVAR: annotating genetic variants for personal genomes via the web.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

Performance comparison of benchtop high-throughput sequencing platforms

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

Genetics and pathological mechanisms of Usher syndrome

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

The responsible genes in Japanese deafness patients and clinical application using Invader assay.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

Isolation of a gene encoding a novel member of the nuclear receptor superfamily from the critical region of Usher syndrome type IIa at 1q41

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

Defective myosin VIIA gene responsible for Usher syndrome type 1B

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3949687

10.1371/JOURNAL.PONE.0090688

27 September 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24618850%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24618850%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

24618850

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24618850%20AND%20SRC:MED&resulttype=core&format=json