(Q44673700)

5 December 2017

title

Snowflake vitreoretinal degeneration: follow-up of the original family (English)

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snowflake vitreoretinal degeneration

5 December 2017

main subject

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inferred from abstract

cataract

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eye disease

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hereditary eye disease

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Fuchs' endothelial dystrophy

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retinal degeneration

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vitreous humour

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Mike M Lee

1

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5 December 2017

Robert Ritter

2

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5 December 2017

Tatsuo Hirose

3

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5 December 2017

Cuong D Vu

4

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5 December 2017

Albert O Edwards

5

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5 December 2017

publication date

1 December 2003

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5 December 2017

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5 December 2017

volume

110

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5 December 2017

issue

12

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5 December 2017

page(s)

2418-2426

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Vitreoretinal Degeneration as a Sign of Generalized Connective Tissue Diseases

5 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

Masked confirmation of linkage between type 1 congenital vitreous anomaly and COL 2A1 in Stickler syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

Hereditary vitreopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

The biochemical structure of mammalian vitreous

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

Localization of pN-type IIA procollagen on adult bovine vitreous collagen fibrils

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

Stickler syndrome type 2 and linkage to the COL11A1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

Marshall syndrome and a defect at the COL11A1 locus

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

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)

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

Erosive Vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2803%2900828-5

7 January 2021

10.1016/S0161-6420(03)00828-5

Identifiers

DOI

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5 December 2017

1 reference