(Q33905928)

29 July 2017

title

Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome (English)

1 reference

29 July 2017

0 references

Ehlers-Danlos syndrome

0 references

5

Ben C Hamel

1 reference

29 July 2017

Manon C Zweers

1

1 reference

29 July 2017

Jim Bristow

2

1 reference

29 July 2017

Peter M Steijlen

3

1 reference

29 July 2017

Willow B Dean

4

1 reference

29 July 2017

Marisol Otero

6

1 reference

29 July 2017

Martina Kucharekova

7

1 reference

29 July 2017

Jan B Boezeman

8

1 reference

29 July 2017

Joost Schalkwijk

9

1 reference

29 July 2017

language of work or name

English

0 references

publication date

1 July 2003

1 reference

American Journal of Human Genetics

29 July 2017

published in

1 reference

29 July 2017

volume

73

1 reference

29 July 2017

issue

1

1 reference

29 July 2017

page(s)

214-217

1 reference

Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180584

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180584

Joint hypermobility and genetic collagen disorders: are they related?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180584

Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180584

Tenascin-X deficiency is associated with Ehlers-Danlos syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180584

Ehlers-Danlos syndrome: recent advances and current understanding of the clinical and genetic heterogeneity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180584

A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180584

Articular mobility in an African population

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180584

Hypermobility: features and differential incidence between the sexes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180584

Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180584

Hypermobility in two Dutch school populations

5 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12865992

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12865992

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/376564

1 reference

29 July 2017

1 reference

29 July 2017

1 reference