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Type II collagenopathies: are there additional family members?
scientific article published on 01 May 1996
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8723099
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8723099%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
title
Type II collagenopathies: are there additional family members?
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8723099
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8723099%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
author
Andreas Nerlich
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8723099
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8723099%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
author name string
Freisinger P
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8723099
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8723099%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
Bonaventure J
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8723099
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8723099%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
Stoess H
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8723099
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8723099%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
Pontz BF
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8723099
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8723099%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
Emmrich P
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8723099
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8723099%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
publication date
1 May 1996
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8723099
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8723099%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
published in
American Journal of Medical Genetics Part A
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8723099
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8723099%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
volume
63
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8723099
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8723099%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
issue
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8723099
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8723099%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
page(s)
137-143
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8723099
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8723099%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 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%2819960503%2963%3A1%3C137%3A%3AAID-AJMG24%3E3.0.CO%3B2-O
retrieved
21 January 2018
Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C137%3A%3AAID-AJMG24%3E3.0.CO%3B2-O
retrieved
21 January 2018
A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C137%3A%3AAID-AJMG24%3E3.0.CO%3B2-O
retrieved
21 January 2018
Short rib-polydactyly syndrome, Majewski type
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C137%3A%3AAID-AJMG24%3E3.0.CO%3B2-O
retrieved
21 January 2018
Type II collagen deficiency in achondrogenesis (Langer-Saldino)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C137%3A%3AAID-AJMG24%3E3.0.CO%3B2-O
retrieved
21 January 2018
Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C137%3A%3AAID-AJMG24%3E3.0.CO%3B2-O
retrieved
21 January 2018
Kniest Dysplasia. A Histochemical Study of the Growth Plate
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C137%3A%3AAID-AJMG24%3E3.0.CO%3B2-O
retrieved
21 January 2018
Further heterogeneity within lethal neonatal short-limbed dwarfism: The platyspondylic types
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C137%3A%3AAID-AJMG24%3E3.0.CO%3B2-O
retrieved
21 January 2018
Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C137%3A%3AAID-AJMG24%3E3.0.CO%3B2-O
retrieved
21 January 2018
Immunohistochemical analysis of interstitial collagens in cartilage of different stages of osteoarthrosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C137%3A%3AAID-AJMG24%3E3.0.CO%3B2-O
retrieved
21 January 2018
Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C137%3A%3AAID-AJMG24%3E3.0.CO%3B2-O
retrieved
21 January 2018
A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C137%3A%3AAID-AJMG24%3E3.0.CO%3B2-O
retrieved
21 January 2018
Recent molecular advances in dysmorphology
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C137%3A%3AAID-AJMG24%3E3.0.CO%3B2-O
retrieved
21 January 2018
Identifiers
DOI
10.1002/(SICI)1096-8628(19960503)63:1<137::AID-AJMG24>3.0.CO;2-O
0 references
PubMed publication ID
8723099
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8723099
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8723099%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 October 2019
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