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Homozygosity for Waardenburg syndrome
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801439
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726174%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 October 2019
title
Homozygosity for Waardenburg syndrome
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801439
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726174%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 October 2019
main subject
homozygosity
1 reference
based on heuristic
inferred from title
author name string
J Zlotogora
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801439
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726174%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 October 2019
I Lerer
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801439
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726174%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 October 2019
S Bar-David
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801439
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726174%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 October 2019
Z Ergaz
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801439
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726174%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 October 2019
D Abeliovich
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801439
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726174%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 October 2019
language of work or name
English
0 references
publication date
1 May 1995
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801439
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726174%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 October 2019
published in
American Journal of Human Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801439
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726174%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 October 2019
volume
56
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801439
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726174%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 October 2019
issue
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801439
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726174%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 October 2019
page(s)
1173-1178
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801439
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726174%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 October 2019
cites work
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)
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=1801439
retrieved
7 April 2017
Conservation of the paired domain in metazoans and its structure in three isolated human genes
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=1801439
retrieved
7 April 2017
Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium
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=1801439
retrieved
7 April 2017
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects
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=1801439
retrieved
7 April 2017
Autosomal dominant inheritance of Klein-Waardenburg 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=1801439
retrieved
7 April 2017
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's 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=1801439
retrieved
7 April 2017
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box 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=1801439
retrieved
7 April 2017
Multilocus linkage analysis in humans: detection of linkage and estimation of recombination
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=1801439
retrieved
7 April 2017
Mutations in PAX3 associated with Waardenburg syndrome type I.
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=1801439
retrieved
28 September 2017
Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.
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=1801439
retrieved
28 September 2017
PAX genes
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=1801439
retrieved
28 September 2017
An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide
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=1801439
retrieved
28 September 2017
Homozygotes for Huntington's disease
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=1801439
retrieved
28 September 2017
PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse
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=1801439
retrieved
28 November 2018
Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/7726174
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
The PAX3 gene is mapped to human chromosome 2 together with a highly informative CA dinucleotide repeat
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/7726174
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Analysis of the Pax-3 gene in the mouse mutant splotch
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/7726174
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Molecular diagnosis of Prader-Willi syndrome: parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/7726174
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
PMC publication ID
1801439
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801439
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726174%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 October 2019
PubMed publication ID
7726174
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801439
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726174%20AND%20SRC:MED&resulttype=core&format=json
retrieved
24 October 2019
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