(Q27006965)

A M McNinch

2

1 reference

A V Poulson

3

1 reference

P Bearcroft

4

1 reference

B Silverman

5

1 reference

P Gomersall

6

1 reference

V Parfect

7

1 reference

A J Richards

8

1 reference

language of work or name

1 reference

November 2011

1 reference

1 reference

25

1 reference

issue

11

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page(s)

1389-400

1 reference

High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

Clinical features of type 2 Stickler syndrome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

Clinical and Molecular genetics of Stickler syndrome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

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 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

Auditory dysfunction in Stickler syndrome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

The fibrillar collagen family

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

Clinical characterisation and molecular analysis of Wagner syndrome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

Versican: a versatile extracellular matrix proteoglycan in cell biology

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

Thoracolumbar spinal abnormalities in Stickler syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

Spondyloepiphyseal dysplasia.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

Stickler's syndrome: a study of 12 families

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

Duke-Elder lecture. Prevention and perspective in retinal detachment

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

Osteochondritis dissecans and Osgood Schlatter disease in a family with Stickler syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

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

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

The Marshall and Stickler syndromes: objective rejection of lumping.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

Unique skeletal dysplasia with absence of the distal ulnae.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213659

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

31 May 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2011.201

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2011.201

Distribution of different collagen types in the rat's tympanic membrane and its suspending structures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2011.201

Col11a1 and Col11a2 mRNA expression in the developing mouse cochlea: implications for the correlation of hearing loss phenotype with mutant type XI collagen genotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2011.201

Stickler syndrome type I and Stapes ankylosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2011.201

Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2011.201

Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2011.201

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2011.201

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2011.201

Hereditary arthro-ophthalmopathy (Stickler syndrome): a diagnosis to consider in familial premature osteoarthritis

21 January 2018

1 reference

12 December 2020

Distinctive cataract in the Stickler syndrome

1 reference

12 December 2020

Stickler syndrome: clinical characteristics and diagnostic criteria

1 reference

12 December 2020

Management of retinal detachment in the Wagner-Stickler syndrome

1 reference

12 December 2020

The influence of pre-mRNA splicing on phenotypic modification in Stickler's syndrome and other type II collagenopathies

1 reference

12 December 2020

A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome

1 reference

12 December 2020

1 reference

12 December 2020

Retinal detachment and prophylaxis in type 1 Stickler syndrome

1 reference

12 December 2020

Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity

1 reference

12 December 2020

Identifiers

DOI

10.1038/EYE.2011.201

1 reference

Dimensions Publication ID

4061112

1041572782

0 references

4061112

1 reference

1 reference

1 reference