(Q36976914)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19023448%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19023448%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

Hanjun Dai

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19023448%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Xiaohui Zhang

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19023448%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Xin Zhao

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19023448%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Ting Deng

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19023448%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Bing Dong

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19023448%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Jingzhao Wang

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19023448%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Yang Li

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19023448%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

publication date

17 November 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19023448%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19023448%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19023448%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

page(s)

2067-2075

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19023448%20AND%20SRC:MED&resulttype=core&format=json

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

17 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584772

A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor 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=2584772

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584772

Usher syndrome: molecular links of pathogenesis, proteins and pathways

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584772

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584772

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the 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=2584772

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584772

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584772

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584772

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584772

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584772

A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584772

A perfect message: RNA surveillance and nonsense-mediated decay

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584772

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584772

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584772

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584772

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584772

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.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584772

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2584772

Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19023448

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19023448

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19023448%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

PubMed publication ID

19023448

1 reference