Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation (Q34981641)

5 August 2017

0 references

Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation (English)

1 reference

5 August 2017

4

Ravi Savarirayan

1 reference

5 August 2017

Peter Kannu

1

1 reference

5 August 2017

Melita Irving

series ordinal

2

1 reference

5 August 2017

Salim Aftimos

series ordinal

3

1 reference

5 August 2017

language of work or name

English

0 references

publication date

26 March 2011

1 reference

Clinical Orthopaedics and Related Research

5 August 2017

published in

1 reference

5 August 2017

volume

469

1 reference

5 August 2017

issue

6

1 reference

5 August 2017

page(s)

1785-1790

1 reference

A histological and ultrastructural study of femoral head cartilage in a new type II collagenopathy

5 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094608

Premature arthritis is a distinct type II collagen phenotype.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094608

Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094608

Perthes' disease and the search for genetic associations: collagen mutations, Gaucher's disease and thrombophilia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094608

Primer3 on the WWW for general users and for biologist programmers

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094608

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094608

Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker.

8 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11999-011-1850-X

Czech dysplasia metatarsal type: another type II collagen disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11999-011-1850-X

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11999-011-1850-X

Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11999-011-1850-X

Czech dysplasia metatarsal type.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11999-011-1850-X

Type II collagen gene variants and inherited osteonecrosis of the femoral head

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11999-011-1850-X

A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11999-011-1850-X

The Human Gene Mutation Database: 2008 update

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11999-011-1850-X

Czech dysplasia: report of a large family and further delineation of the phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11999-011-1850-X

Precocious osteoarthritis in a family with recurrent COL2A1 mutation.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3094608

Age at onset-dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg-Calvé-Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1.

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21442341

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21442341

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S11999-011-1850-X

1 reference

Dimensions Publication ID

5 August 2017

0 references

1 reference

5 August 2017

1 reference