(Q35953990)

11 August 2017

0 references

Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen (English)

1 reference

11 August 2017

Sarah P Meredith

1

1 reference

11 August 2017

Allan J Richards

2

1 reference

11 August 2017

Philip Bearcroft

3

1 reference

11 August 2017

Arabella V Pouson

4

1 reference

11 August 2017

Martin P Snead

5

1 reference

11 August 2017

language of work or name

English

0 references

publication date

8 March 2007

1 reference

British Journal of Ophthalmology

11 August 2017

1 reference

11 August 2017

91

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11 August 2017

9

1 reference

11 August 2017

1148-1151

1 reference

Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1954906

Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): a survey

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1954906

Clinical and Molecular genetics of Stickler syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1954906

The biochemical structure of mammalian vitreous

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1954906

The type II collagenopathies: a spectrum of chondrodysplasias

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1954906

Characterization of collagen from normal human sclera

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1954906

Kniest syndrome with dominant inheritance and mucopolysacchariduria

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1954906

Regulation of eye size by the retinal basement membrane and vitreous body

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1954906

The phenotypic spectrum of COL2A1 mutations

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1954906

The ocular findings in Kniest dysplasia.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1954906

Ocular manifestations in Kniest syndrome, Smith-Lemli-Opitz syndrome, Hallermann-Streiff-François syndrome, Rubinstein-Taybi syndrome and median cleft face syndrome

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1954906

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1954906

Stickler syndrome: clinical characteristics and diagnostic criteria

14 November 2018

1 reference

12 December 2020

Nosology and classification of genetic skeletal disorders: 2006 revision

1 reference

12 December 2020

Immunohistochemical characterization of extracellular matrix in the developing human cornea

1 reference

12 December 2020

Collagens and non collagenous proteins in the human eye. I. Corneal stroma in vivo and keratocyte production in vitro

1 reference

12 December 2020

[Two cases of Kniest dysplasia--ocular manifestations]

1 reference

12 December 2020

A severe infantile micromelic chondrodysplasia which resembles Kniest disease

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.2006.112482

1 reference

release_hajbcvypjva2pcoce6c7jqdtiu

11 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/hajbcvypjva2pcoce6c7jqdtiu

24 November 2022

mapped directly with Wikidata item

1 reference

11 August 2017

PubMed publication ID

17347327

1 reference