Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q34693080)
Watch
English
Genetic and genomic analysis of classic aniridia in Saudi Arabia.
scientific article
In more languages
edit
Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
3060157
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21423868%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 January 2020
title
Genetic and genomic analysis of classic aniridia in Saudi Arabia
(English)
1 reference
stated in
Europe PubMed Central
PMCID
3060157
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21423868%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 January 2020
main subject
aniridia
1 reference
based on heuristic
inferred from title
Saudi Arabia
1 reference
based on heuristic
inferred from title
author
Mohammed A Aldahmesh
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
3060157
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21423868%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 January 2020
author name string
Arif O Khan
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
3060157
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21423868%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 January 2020
Fowzan S Alkuraya
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMCID
3060157
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21423868%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 January 2020
publication date
11 March 2011
1 reference
stated in
Europe PubMed Central
PMCID
3060157
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21423868%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 January 2020
published in
Molecular Vision
1 reference
stated in
Europe PubMed Central
PMCID
3060157
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21423868%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 January 2020
volume
17
1 reference
stated in
Europe PubMed Central
PMCID
3060157
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21423868%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 January 2020
page(s)
708-714
1 reference
stated in
Europe PubMed Central
PMCID
3060157
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21423868%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 January 2020
cites work
Autozygome decoded
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=3060157
retrieved
7 July 2018
Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis
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=3060157
retrieved
7 July 2018
Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia
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=3060157
retrieved
7 July 2018
Aniridia: current pathology and management.
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=3060157
retrieved
7 July 2018
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene
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=3060157
retrieved
7 July 2018
Science and society: genetic counselling and customary consanguineous marriage
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=3060157
retrieved
7 July 2018
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma
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=3060157
retrieved
7 July 2018
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye
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=3060157
retrieved
7 July 2018
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma
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=3060157
retrieved
7 July 2018
Axenfeld-Rieger syndrome in the age of molecular genetics
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=3060157
retrieved
7 July 2018
Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.
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=3060157
retrieved
7 July 2018
A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD
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=3060157
retrieved
7 July 2018
PAX6 mutations reviewed
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=3060157
retrieved
7 July 2018
Aniridia. A review
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=3060157
retrieved
7 July 2018
Axenfeld-Rieger syndrome. A spectrum of developmental disorders
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=3060157
retrieved
7 July 2018
Molecular characterization of newborn glaucoma including a distinct aniridic 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=3060157
retrieved
26 October 2018
The association between copy number variations in glutathione S-transferase M1 and T1 and age-related cataract in a Han Chinese population
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=3060157
retrieved
26 October 2018
Contribution of copy number variation in the regulation of complement activation locus to development of age-related macular 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=3060157
retrieved
26 October 2018
Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother.
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=3060157
retrieved
26 October 2018
Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion
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=3060157
retrieved
26 October 2018
Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations.
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=3060157
retrieved
26 October 2018
PAX6 analysis of two unrelated families from the Arabian Peninsula with classic hereditary aniridia
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/21423868
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
PMCID
3060157
1 reference
stated in
Europe PubMed Central
PMCID
3060157
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21423868%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 January 2020
PubMed ID
21423868
1 reference
stated in
Europe PubMed Central
PMCID
3060157
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21423868%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 January 2020
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit
