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English
A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis
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scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
2987461
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20517349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
title
A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
2987461
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20517349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
main subject
congenital disorder
0 references
cone-rod dystrophy
1 reference
based on heuristic
inferred from title
author
Sibel Aylin Ugur
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
2987461
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20517349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
Aslihan Tolun
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
2987461
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20517349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
author name string
Yusuf K Durlu
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
2987461
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20517349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
publication date
2 June 2010
1 reference
stated in
Europe PubMed Central
PMC publication ID
2987461
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20517349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
published in
European Journal of Human Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
2987461
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20517349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
volume
18
1 reference
stated in
Europe PubMed Central
PMC publication ID
2987461
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20517349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
issue
10
1 reference
stated in
Europe PubMed Central
PMC publication ID
2987461
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20517349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
page(s)
1121-1126
1 reference
stated in
Europe PubMed Central
PMC publication ID
2987461
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20517349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
cites work
Leber congenital amaurosis: genes, proteins and disease mechanisms
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=2987461
retrieved
6 July 2018
Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.
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=2987461
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6 July 2018
Cone rod dystrophies
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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=2987461
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6 July 2018
Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis
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PubMed Central
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6 July 2018
Leber congenital amaurosis: a genetic paradigm
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PubMed Central
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6 July 2018
Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.
1 reference
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PubMed Central
reference URL
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6 July 2018
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis
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PubMed Central
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6 July 2018
Genotyping for human whole-genome scans: past, present, and future
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PubMed Central
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6 July 2018
Spectrum of retGC1 mutations in Leber's congenital amaurosis
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987461
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6 July 2018
Primer3 on the WWW for general users and for biologist programmers
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987461
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6 July 2018
PedCheck: a program for identification of genotype incompatibilities in linkage analysis
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987461
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6 July 2018
Catalytic mechanism of the adenylyl and guanylyl cyclases: modeling and mutational analysis
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PubMed Central
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6 July 2018
Characterization and crystallization of a minimal catalytic core domain from mammalian type II adenylyl cyclase
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987461
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6 July 2018
Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics
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6 July 2018
Cone and cone-rod dystrophies
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=2987461
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6 July 2018
CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEJHG.2010.81
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21 January 2018
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEJHG.2010.81
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21 January 2018
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.
1 reference
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Crossref
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https://api.crossref.org/works/10.1038%2FEJHG.2010.81
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21 January 2018
Detecting polymorphisms and mutations in candidate genes
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Crossref
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https://api.crossref.org/works/10.1038%2FEJHG.2010.81
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21 January 2018
Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA).
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=2987461
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27 October 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/20517349
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1038/EJHG.2010.81
1 reference
stated in
Europe PubMed Central
PMC publication ID
2987461
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20517349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
PMC publication ID
2987461
1 reference
stated in
Europe PubMed Central
PMC publication ID
2987461
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20517349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
PubMed publication ID
20517349
1 reference
stated in
Europe PubMed Central
PMC publication ID
2987461
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20517349%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
ResearchGate publication ID
44644039
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