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A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.
scientific article published on April 2009
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
4432478
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357116%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 January 2020
title
A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
4432478
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357116%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 January 2020
main subject
Usher syndrome
1 reference
based on heuristic
litr
author
Hossein Najmabadi
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
4432478
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357116%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 January 2020
Kimia Kahrizi
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
4432478
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357116%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 January 2020
Richard J Smith
series ordinal
6
1 reference
stated in
Europe PubMed Central
PMC publication ID
4432478
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357116%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 January 2020
Guy Van Camp
series ordinal
7
1 reference
stated in
Europe PubMed Central
PMC publication ID
4432478
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357116%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 January 2020
author name string
N Hilgert
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
4432478
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357116%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 January 2020
N Dieltjens
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
4432478
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357116%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 January 2020
N Bazazzadegan
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
4432478
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357116%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 January 2020
language of work or name
English
0 references
publication date
1 April 2009
1 reference
stated in
Europe PubMed Central
PMC publication ID
4432478
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357116%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 January 2020
published in
Journal of Medical Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
4432478
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357116%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 January 2020
volume
46
1 reference
stated in
Europe PubMed Central
PMC publication ID
4432478
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357116%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 January 2020
issue
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
4432478
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357116%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 January 2020
page(s)
272-276
1 reference
stated in
Europe PubMed Central
PMC publication ID
4432478
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357116%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 January 2020
cites work
The changing face of Usher syndrome: clinical implications
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432478
retrieved
12 July 2018
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432478
retrieved
12 July 2018
Development of a genotyping microarray for Usher syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432478
retrieved
12 July 2018
The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432478
retrieved
12 July 2018
Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432478
retrieved
12 July 2018
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432478
retrieved
12 July 2018
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432478
retrieved
12 July 2018
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432478
retrieved
12 July 2018
Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432478
retrieved
12 July 2018
A novel gene causing a mendelian audiogenic mouse epilepsy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432478
retrieved
12 July 2018
LNB-TM7, a group of seven-transmembrane proteins related to family-B G-protein-coupled receptors
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432478
retrieved
12 July 2018
Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432478
retrieved
12 July 2018
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432478
retrieved
12 July 2018
Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432478
retrieved
12 July 2018
Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432478
retrieved
15 November 2018
easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/19357116
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1136/JMG.2008.060947
1 reference
stated in
Europe PubMed Central
PMC publication ID
4432478
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357116%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 January 2020
Fatcat ID
release_7bico53npnblzcf2i27sne6ls4
1 reference
stated in
Fatcat
reference URL
https://api.fatcat.wiki/v0/release/7bico53npnblzcf2i27sne6ls4
retrieved
24 November 2022
based on heuristic
mapped directly with Wikidata item
PMC publication ID
4432478
1 reference
stated in
Europe PubMed Central
PMC publication ID
4432478
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357116%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 January 2020
PubMed publication ID
19357116
1 reference
stated in
Europe PubMed Central
PMC publication ID
4432478
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357116%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 January 2020
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