(Q74304191)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10982970%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10982970%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

D J Wilkin

1

1 reference

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10 November 2019

R Liberfarb

2

1 reference

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10 November 2019

J Davis

3

1 reference

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10 November 2019

H P Levy

4

1 reference

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10 November 2019

W G Cole

5

1 reference

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10 November 2019

C A Francomano

6

1 reference

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10 November 2019

D H Cohn

7

1 reference

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10 November 2019

publication date

1 September 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10982970%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

10 November 2019

published in

1 reference

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10 November 2019

volume

94

1 reference

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10 November 2019

issue

2

1 reference

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10 November 2019

page(s)

141-148

1 reference

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

10 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C141%3A%3AAID-AJMG6%3E3.0.CO%3B2-A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C141%3A%3AAID-AJMG6%3E3.0.CO%3B2-A

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/10.1002%2F1096-8628%2820000911%2994%3A2%3C141%3A%3AAID-AJMG6%3E3.0.CO%3B2-A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C141%3A%3AAID-AJMG6%3E3.0.CO%3B2-A

Procollagen II Gene Mutation in Stickler Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C141%3A%3AAID-AJMG6%3E3.0.CO%3B2-A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C141%3A%3AAID-AJMG6%3E3.0.CO%3B2-A

The CpG dinucleotide and human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C141%3A%3AAID-AJMG6%3E3.0.CO%3B2-A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C141%3A%3AAID-AJMG6%3E3.0.CO%3B2-A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C141%3A%3AAID-AJMG6%3E3.0.CO%3B2-A

The Wagner-Stickler syndrome: A study of 22 families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C141%3A%3AAID-AJMG6%3E3.0.CO%3B2-A

Exclusive paternal origin of new mutations in Apert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C141%3A%3AAID-AJMG6%3E3.0.CO%3B2-A

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 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C141%3A%3AAID-AJMG6%3E3.0.CO%3B2-A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C141%3A%3AAID-AJMG6%3E3.0.CO%3B2-A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C141%3A%3AAID-AJMG6%3E3.0.CO%3B2-A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C141%3A%3AAID-AJMG6%3E3.0.CO%3B2-A

Stickler syndrome type 2 and linkage to the COL11A1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C141%3A%3AAID-AJMG6%3E3.0.CO%3B2-A

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C141%3A%3AAID-AJMG6%3E3.0.CO%3B2-A

Genetic and clinical heterogeneity of Stickler syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C141%3A%3AAID-AJMG6%3E3.0.CO%3B2-A

Small deletions in the type II collagen triple helix produce Kniest dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C141%3A%3AAID-AJMG6%3E3.0.CO%3B2-A

A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C141%3A%3AAID-AJMG6%3E3.0.CO%3B2-A

10.1002/1096-8628(20000911)94:2<141::AID-AJMG6>3.0.CO;2-A

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10982970%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference