(Q35196445)

7 August 2017

title

Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1 (English)

1 reference

7 August 2017

C Sher

1

1 reference

7 August 2017

R Ramesar

2

1 reference

7 August 2017

R Martell

3

1 reference

7 August 2017

I Learmonth

4

1 reference

7 August 2017

P Tsipouras

5

1 reference

7 August 2017

P Beighton

6

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 March 1991

1 reference

American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

48

1 reference

7 August 2017

issue

3

1 reference

7 August 2017

page(s)

518-524

1 reference

Namaqualand hip dysplasia: an autosomal dominant entity.

7 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=1682978

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682978

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682978

Cartilage collagen analysis in the chondrodystrophies.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682978

Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682978

Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682978

Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682978

Isolation and partial characterization of the entire human pro alpha 1(II) collagen gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682978

A three allele restriction fragment length polymorphism within the human Col2A1 gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682978

The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682978

Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682978

Identification of the molecular defect in a family with spondyloepiphyseal dysplasia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682978

Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682978

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682978

Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI)

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682978

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682978

Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682978

Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia

15 November 2018

1 reference

12 December 2020

Namaqualand hip dysplasia. Orthopedic implications

1 reference

12 December 2020

PREDISPOSITION TO FAMILIAL OSTEOARTHROSIS LINKED TO TYPE II COLLAGEN GENE

1 reference

12 December 2020

Report of the Committee on Methods of Linkage Analysis and Reporting

1 reference

12 December 2020

Identifiers

PMC publication ID

1682978

1 reference

7 August 2017

1 reference