COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes (Q35313924)

7 August 2017

title

COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes (English)

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7 August 2017

Richards AJ

1

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7 August 2017

Martin S

2

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7 August 2017

Yates JR

3

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7 August 2017

Scott JD

4

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7 August 2017

Baguley DM

5

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7 August 2017

Pope FM

6

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7 August 2017

Snead MP

7

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7 August 2017

language of work or name

English

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publication date

1 April 2000

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7 August 2017

number of pages

8

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British Journal of Ophthalmology

inferred from page(s)

published in

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7 August 2017

volume

84

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7 August 2017

issue

4

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7 August 2017

page(s)

364-371

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HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY

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=1723423

Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723423

Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723423

Correlation of linkage data with phenotype in eight families with Stickler syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723423

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723423

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723423

Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723423

Wagner vitreoretinal degeneration. Follow-up of the original pedigree.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723423

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723423

Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723423

Prevention of retinal detachment in Wagner-Stickler disease. Comparative study of different methods. Apropos of 22 cases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723423

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723423

Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723423

Duke-Elder lecture. Prevention and perspective in retinal detachment

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723423

Alternatively spliced type II procollagen mRNAs define distinct populations of cells during vertebral development: differential expression of the amino-propeptide

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723423

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723423

Vitreoretinal Degeneration as a Sign of Generalized Connective Tissue Diseases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723423

Progress in human chondrodysplasias: molecular genetics

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723423

The Wagner-Stickler syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723423

Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723423

Stickler syndrome: Correlation between vitreoretinal phenotypes and linkage to COL 2A1

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723423

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene

15 November 2018

1 reference

12 December 2020

Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14

1 reference

12 December 2020

A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred

1 reference

12 December 2020

Identification of alternatively spliced variants of type II procollagen in vitreous

1 reference

12 December 2020

Familial retinal detachment

1 reference

12 December 2020

The Wagner-Stickler syndrome: A study of 22 families

1 reference

12 December 2020

Management of retinal detachment in the Wagner-Stickler syndrome

1 reference

12 December 2020

[On the clinical manifestation and pathology of degeneratio hyaloideoretinalis hereditaria (Wagner)]

1 reference

12 December 2020

Wagner's vitreoretinal degeneration with generalized epiphyseal dysplasia

1 reference

12 December 2020

Isolation and characterization of the chains of type V/type XI collagen present in bovine vitreous

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.84.4.364

1 reference

7 August 2017

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7 August 2017

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