(Q37097868)

18 August 2017

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title

Clinical features of the congenital vitreoretinopathies (English)

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18 August 2017

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A O Edwards

1

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18 August 2017

publication date

29 February 2008

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18 August 2017

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18 August 2017

volume

22

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18 August 2017

issue

10

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18 August 2017

page(s)

1233-1242

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Clinical features of type 2 Stickler syndrome

18 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

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.2008.38

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

A case of Kniest dysplasia with retinal detachment and the mutation analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

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/10.1038%2FEYE.2008.38

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/10.1038%2FEYE.2008.38

Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

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/10.1038%2FEYE.2008.38

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

Autosomal dominant vitreoretinochoroidopathy (ADVIRC).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

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.2008.38

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

Clinical characterisation and molecular analysis of Wagner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

Snowflake vitreoretinal degeneration: follow-up of the original family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

Clinical description and exclusion of candidate genes in a novel autosomal recessively inherited vitreoretinal dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

Erosive Vitreoretinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

Retinal detachment and prophylaxis in type 1 Stickler syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

7 January 2021

Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity.

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

7 January 2021

Autosomal dominant vitreoretinochoroidopathy

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

7 January 2021

Electro-oculography in autosomal dominant vitreoretinochoroidopathy

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

7 January 2021

Central cone dysfunction in autosomal dominant vitreoretino choroidopathy (ADVIRC)

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

7 January 2021

Histopathologic study of autosomal dominant vitreoretinochoroidopathy. Peripheral annular pigmentary dystrophy of the retina

1 reference

https://api.crossref.org/works/10.1038%2FEYE.2008.38

7 January 2021

Identifiers

DOI

10.1038/EYE.2008.38

1 reference

18 August 2017

1 reference