(Q33677674)

28 July 2017

title

PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome (English)

1 reference

28 July 2017

1 reference

N N Ahmad

1

1 reference

28 July 2017

D M McDonald-McGinn

2

1 reference

28 July 2017

P Dixon

3

1 reference

28 July 2017

E H Zackai

4

1 reference

28 July 2017

W S Tasman

5

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 August 1996

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

33

1 reference

28 July 2017

issue

8

1 reference

28 July 2017

page(s)

678-681

1 reference

HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050703

A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050703

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050703

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050703

Craniofacial surgery: airway problems and management

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050703

Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050703

Detection of minority point mutations by modified PCR technique: a new approach for a sensitive diagnosis of tumor-progression markers

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050703

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050703

Human congenital anomalies: application of new genetic tools and concepts

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050703

DNA sequencing with chain-terminating inhibitors

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050703

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.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050703

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050703

Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050703

30 October 2018

The Stickler syndrome

1 reference

12 December 2020

Hereditary progressive arthro-ophthalmopathy of Stickler

1 reference

12 December 2020

Pierre Robin, micrognathia, and airway obstruction: the dependency of treatment on accurate diagnosis

1 reference

12 December 2020

Genetic and clinical heterogeneity of Stickler syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Procollagen II Gene Mutation in Stickler Syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.33.8.678

1 reference

28 July 2017

1 reference

28 July 2017

1 reference