(Q44214607)

English

Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations

scientific article published in November 2002

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

Stickler syndrome

1 reference

based on heuristic

inferred from title

retinal degeneration

1 reference

based on heuristic

inferred from title

author name string

Edward S Parma

1

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

Jarmo Körkkö

2

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

William S Hagler

3

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

Leena Ala-Kokko

4

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

language of work or name

0 references

publication date

1 November 2002

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

American Journal of Ophthalmology

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

134

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

728-734

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

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

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901646-X

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%2FS0002-9394%2802%2901646-X

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%2FS0002-9394%2802%2901646-X

7 January 2021

Collagens and collagen-related diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901646-X

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%2FS0002-9394%2802%2901646-X

7 January 2021

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901646-X

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%2FS0002-9394%2802%2901646-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901646-X

7 January 2021

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901646-X

7 January 2021

Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901646-X

7 January 2021

Convenient single-step, one tube purification of PCR products for direct sequencing

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901646-X

7 January 2021

Alternative splice form of type II procollagen mRNA (IIA) is predominant in skeletal precursors and non-cartilaginous tissues during early mouse development

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901646-X

7 January 2021

Tissue-specific and differential expression of alternatively spliced alpha 1(II) collagen mRNAs in early human embryos.

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901646-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901646-X

7 January 2021

Identification of alternatively spliced variants of type II procollagen in vitreous

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901646-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2802%2901646-X

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%2FS0002-9394%2802%2901646-X

7 January 2021

Identifiers

10.1016/S0002-9394(02)01646-X

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 November 2017

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