(Q35881452)

English

Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias

scientific article published in February 1996

In more languages

default for all languages

No label defined

No description defined

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias (English)

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

atelosteogenesis

1 reference

based on heuristic

inferred from title

atelosteogenesis type II

1 reference

based on heuristic

inferred from title

diastrophic dysplasia

1 reference

based on heuristic

inferred from title

4

object named as

D L Rimoin

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

author name string

J Hästbacka

1

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

A Superti-Furga

2

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

W R Wilcox

3

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

D H Cohn

5

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

E S Lander

6

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

language of work or name

0 references

publication date

1 February 1996

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

58

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

2

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

255-262

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914552

11 July 2018

A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914552

11 July 2018

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914552

11 July 2018

Toward a molecular understanding of skeletal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914552

11 July 2018

Cartilage disorders. The importance of being sulphated

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914552

11 July 2018

De la Chapelle dysplasia (atelosteogenesis type II): case report and review of the literature [corrected]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914552

11 July 2018

Sulfate transport-deficient mutants of Chinese hamster ovary cells. Sulfation of glycosaminoglycans dependent on cysteine.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914552

11 July 2018

Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914552

11 July 2018

Mechanical and physiochemical determinants of the chondrocyte biosynthetic response

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914552

11 July 2018

Sulphation by cultured cells. Cysteine, cysteinesulphinic acid and sulphite as sources for proteoglycan sulphate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914552

11 July 2018

Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914552

11 July 2018

The lethal osteochondrodysplasias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914552

11 July 2018

A genetic map of the mouse suitable for typing intraspecific crosses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914552

11 July 2018

Quantitative Film Detection of 3H and 14C in Polyacrylamide Gels by Fluorography

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914552

11 July 2018

The phenotypic variability of diastrophic dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914552

11 July 2018

Sulfate transport in human lung fibroblasts (IMR-90)

1 reference

https://pubmed.ncbi.nlm.nih.gov/8571951

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DIASTROPHIC DWARFISM

1 reference

https://pubmed.ncbi.nlm.nih.gov/8571951

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Histopathology of fetal diastrophic dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8571951

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691→Arg) in the type II collagen trimer

1 reference

https://pubmed.ncbi.nlm.nih.gov/8571951

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atelosteogenesis type II: Sonographic and radiological correlation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8571951

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atelosteogenesis: evidence for heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/8571951

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Serum sulfate levels in patients with cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8571951

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microassay of inorganic sulfate in biological fluids by controlled flow anion chromatography

1 reference

https://pubmed.ncbi.nlm.nih.gov/8571951

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q35881452&oldid=1603980808"