Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q73062759)
Watch
English
Marshall-Stickler phenotype associated with von Willebrand disease
scientific article published on 01 January 1997
In more languages
edit
Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9028444
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9028444%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
title
Marshall-Stickler phenotype associated with von Willebrand disease
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9028444
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9028444%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
main subject
phenotype
1 reference
based on heuristic
inferred from title
author name string
M R MacDonald
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9028444
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9028444%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
K S Baker
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9028444
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9028444%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
G B Schaefer
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9028444
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9028444%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
publication date
1 January 1997
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9028444
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9028444%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
published in
American Journal of Medical Genetics Part A
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9028444
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9028444%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
volume
68
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9028444
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9028444%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
issue
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9028444
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9028444%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
page(s)
121-126
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9028444
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9028444%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
cites work
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C121%3A%3AAID-AJMG1%3E3.0.CO%3B2-S
retrieved
21 January 2018
Procollagen II Gene Mutation in Stickler Syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C121%3A%3AAID-AJMG1%3E3.0.CO%3B2-S
retrieved
21 January 2018
A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C121%3A%3AAID-AJMG1%3E3.0.CO%3B2-S
retrieved
21 January 2018
The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C121%3A%3AAID-AJMG1%3E3.0.CO%3B2-S
retrieved
21 January 2018
Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C121%3A%3AAID-AJMG1%3E3.0.CO%3B2-S
retrieved
21 January 2018
Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C121%3A%3AAID-AJMG1%3E3.0.CO%3B2-S
retrieved
21 January 2018
Prevalence of mitral-valve prolapse in the Stickler syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C121%3A%3AAID-AJMG1%3E3.0.CO%3B2-S
retrieved
21 January 2018
A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C121%3A%3AAID-AJMG1%3E3.0.CO%3B2-S
retrieved
21 January 2018
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C121%3A%3AAID-AJMG1%3E3.0.CO%3B2-S
retrieved
21 January 2018
Genetic and clinical heterogeneity of Stickler syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C121%3A%3AAID-AJMG1%3E3.0.CO%3B2-S
retrieved
21 January 2018
Prevalence of von Willebrand disease in children: a multiethnic study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C121%3A%3AAID-AJMG1%3E3.0.CO%3B2-S
retrieved
21 January 2018
Variability of Stickler syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970120%2968%3A2%3C121%3A%3AAID-AJMG1%3E3.0.CO%3B2-S
retrieved
21 January 2018
Identifiers
DOI
10.1002/(SICI)1096-8628(19970120)68:2<121::AID-AJMG1>3.0.CO;2-S
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9028444
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9028444%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
PubMed publication ID
9028444
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9028444
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9028444%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
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
