(Q53755832)

19 May 2018

title

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. (English)

1 reference

19 May 2018

author name string

Stuart Baker

1

1 reference

19 May 2018

Carol Booth

2

1 reference

19 May 2018

Corrine Fillman

3

1 reference

19 May 2018

Michael Shapiro

4

1 reference

19 May 2018

Michael P Blair

5

1 reference

19 May 2018

James C Hyland

6

1 reference

19 May 2018

Leena Ala-Kokko

7

1 reference

19 May 2018

language of work or name

English

0 references

publication date

10 June 2011

1 reference

19 May 2018

American Journal of Medical Genetics

published in

1 reference

19 May 2018

volume

155A

1 reference

19 May 2018

issue

7

1 reference

19 May 2018

page(s)

1668-1672

1 reference

19 May 2018

Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34071

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34071

Type IX collagen is crucial for normal hearing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34071

Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34071

Genetic and orthopedic aspects of collagen disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34071

A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34071

Collagen of articular cartilage

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34071

Mice lacking alpha 1 (IX) collagen develop noninflammatory degenerative joint disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34071

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34071

COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34071

Marshall syndrome associated with a splicing defect at the COL11A1 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34071

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/10.1002%2FAJMG.A.34071

A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34071

A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34071

Collagens and collagen-related diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34071

COL9A3: A third locus for multiple epiphyseal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34071

Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34071

Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34071

Characterization of recombinant human type IX collagen. Association of alpha chains into homotrimeric and heterotrimeric molecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34071

The role of structural genes in the pathogenesis of osteoarthritic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34071

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34071

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34071

The Marshall syndrome: report of a new family and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34071

Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34071

A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34071

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.34071

1 reference

19 May 2018

release_q7yuqyjzzzfmnfyuue2dmq6hge

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/q7yuqyjzzzfmnfyuue2dmq6hge

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

19 May 2018