Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q41045374)
Watch
English
Molecular defects in the chondrodysplasias
scientific article published on May 1996
In more languages
edit
Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
8723095
retrieved
26 September 2017
review article
1 reference
stated in
Europe PubMed Central
title
Molecular defects in the chondrodysplasias
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
8723095
retrieved
26 September 2017
author name string
Rimoin DL
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
8723095
retrieved
26 September 2017
language of work or name
English
1 reference
based on heuristic
inferred from title
publication date
1 May 1996
1 reference
stated in
Europe PubMed Central
PubMed ID
8723095
retrieved
26 September 2017
published in
American Journal of Medical Genetics Part A
1 reference
stated in
Europe PubMed Central
PubMed ID
8723095
retrieved
26 September 2017
volume
63
1 reference
stated in
Europe PubMed Central
PubMed ID
8723095
retrieved
26 September 2017
issue
1
1 reference
stated in
Europe PubMed Central
PubMed ID
8723095
retrieved
26 September 2017
page(s)
106-110
1 reference
stated in
Europe PubMed Central
PubMed ID
8723095
retrieved
26 September 2017
cites work
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C106%3A%3AAID-AJMG20%3E3.0.CO%3B2-R
retrieved
21 January 2018
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C106%3A%3AAID-AJMG20%3E3.0.CO%3B2-R
retrieved
21 January 2018
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C106%3A%3AAID-AJMG20%3E3.0.CO%3B2-R
retrieved
21 January 2018
A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C106%3A%3AAID-AJMG20%3E3.0.CO%3B2-R
retrieved
21 January 2018
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C106%3A%3AAID-AJMG20%3E3.0.CO%3B2-R
retrieved
21 January 2018
Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C106%3A%3AAID-AJMG20%3E3.0.CO%3B2-R
retrieved
21 January 2018
Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata ? a complementation study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C106%3A%3AAID-AJMG20%3E3.0.CO%3B2-R
retrieved
21 January 2018
A gene for hereditary multiple exostoses maps to chromosome 19p.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C106%3A%3AAID-AJMG20%3E3.0.CO%3B2-R
retrieved
21 January 2018
Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C106%3A%3AAID-AJMG20%3E3.0.CO%3B2-R
retrieved
21 January 2018
Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C106%3A%3AAID-AJMG20%3E3.0.CO%3B2-R
retrieved
21 January 2018
Clinical--molecular correlations in the skeletal dysplasias
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C106%3A%3AAID-AJMG20%3E3.0.CO%3B2-R
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%2819960503%2963%3A1%3C106%3A%3AAID-AJMG20%3E3.0.CO%3B2-R
retrieved
21 January 2018
Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C106%3A%3AAID-AJMG20%3E3.0.CO%3B2-R
retrieved
21 January 2018
A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C106%3A%3AAID-AJMG20%3E3.0.CO%3B2-R
retrieved
21 January 2018
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C106%3A%3AAID-AJMG20%3E3.0.CO%3B2-R
retrieved
21 January 2018
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C106%3A%3AAID-AJMG20%3E3.0.CO%3B2-R
retrieved
21 January 2018
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C106%3A%3AAID-AJMG20%3E3.0.CO%3B2-R
retrieved
21 January 2018
Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C106%3A%3AAID-AJMG20%3E3.0.CO%3B2-R
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%2819960503%2963%3A1%3C106%3A%3AAID-AJMG20%3E3.0.CO%3B2-R
retrieved
21 January 2018
A type X collagen mutation causes Schmid metaphyseal chondrodysplasia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C106%3A%3AAID-AJMG20%3E3.0.CO%3B2-R
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%3C106%3A%3AAID-AJMG20%3E3.0.CO%3B2-R
retrieved
21 January 2018
Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C106%3A%3AAID-AJMG20%3E3.0.CO%3B2-R
retrieved
21 January 2018
A gene for achondroplasia–hypochondroplasia maps to chromosome 4p
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C106%3A%3AAID-AJMG20%3E3.0.CO%3B2-R
retrieved
21 January 2018
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C106%3A%3AAID-AJMG20%3E3.0.CO%3B2-R
retrieved
21 January 2018
Identifiers
DOI
10.1002/(SICI)1096-8628(19960503)63:1<106::AID-AJMG20>3.0.CO;2-R
1 reference
stated in
Europe PubMed Central
PubMed ID
8723095
retrieved
26 September 2017
PubMed ID
8723095
1 reference
stated in
Europe PubMed Central
PubMed ID
8723095
retrieved
26 September 2017
Â
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