(Q34172461)

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The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.

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Europe PubMed Central

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31 July 2017

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Europe PubMed Central

The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. (English)

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Europe PubMed Central

PubMed publication ID

31 July 2017

Stickler syndrome

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based on heuristic

inferred from title

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based on heuristic

inferred from title

Clair A. Francomano

10

object named as

Clair A Francomano

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Europe PubMed Central

PubMed publication ID

31 July 2017

author name string

Ruth M Liberfarb

1

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Europe PubMed Central

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31 July 2017

Howard P Levy

2

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Europe PubMed Central

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31 July 2017

Peter S Rose

3

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Europe PubMed Central

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31 July 2017

Douglas J Wilkin

4

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Europe PubMed Central

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31 July 2017

Joie Davis

5

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Europe PubMed Central

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31 July 2017

Joan Z Balog

6

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Europe PubMed Central

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31 July 2017

Andrew J Griffith

7

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Europe PubMed Central

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31 July 2017

Yvonne M Szymko-Bennett

8

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Europe PubMed Central

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31 July 2017

Jennifer J Johnston

9

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Europe PubMed Central

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31 July 2017

Ekaterina Tsilou

11

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31 July 2017

Benhamin I Rubin

12

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31 July 2017

language of work or name

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publication date

1 January 2003

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Europe PubMed Central

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31 July 2017

Genetics in Medicine

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Europe PubMed Central

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31 July 2017

5

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31 July 2017

1

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31 July 2017

21-27

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31 July 2017

Prevalence of mitral-valve prolapse in the Stickler syndrome

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

Otolaryngological manifestations of the Stickler syndrome.

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

Thoracolumbar spinal abnormalities in Stickler syndrome

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

The hip in Stickler syndrome

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

Auditory dysfunction in Stickler syndrome

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

Variability of Stickler syndrome

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

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/10.1097%2F00125817-200301000-00004

21 January 2018

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/10.1097%2F00125817-200301000-00004

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

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/10.1097%2F00125817-200301000-00004

21 January 2018

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/10.1097%2F00125817-200301000-00004

21 January 2018

Progression of hearing loss caused by occupational noise

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

Age- and gender-specific reference ranges for hearing level and longitudinal changes in hearing level.

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

Prevalence and clinical outcome of mitral-valve prolapse.

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

Procollagen II Gene Mutation in Stickler Syndrome

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy)

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

The Stickler syndrome

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

The Wagner-Stickler syndrome: A study of 22 families

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

Distinctive cataract in the Stickler syndrome

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

Stickler syndrome. A mutation in the nonhelical 3' end of type II procollagen gene

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

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/10.1097%2F00125817-200301000-00004

21 January 2018

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/10.1097%2F00125817-200301000-00004

21 January 2018

Genetic and clinical heterogeneity of Stickler syndrome

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

Clinical Experience With Impedance Audiometry

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200301000-00004

21 January 2018

Identifiers

10.1097/00125817-200301000-00004

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Dimensions Publication ID

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PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

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