(Q46364651)

21 December 2017

title

Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene (English)

1 reference

21 December 2017

author

Rajkumar Ramesar

series ordinal

3

1 reference

21 December 2017

author name string

Ballo R

series ordinal

1

1 reference

21 December 2017

Beighton PH

series ordinal

2

1 reference

21 December 2017

publication date

1 October 1998

1 reference

21 December 2017

American Journal of Medical Genetics Part A

published in

1 reference

21 December 2017

volume

80

1 reference

21 December 2017

page(s)

6-11

1 reference

21 December 2017

issue

1

1 reference

21 December 2017

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

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

Thermal stability and folding of the collagen triple helix and the effects of mutations in osteogenesis imperfecta on the triple helix of type I collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

Osteogenesis imperfecta: translation of mutation to phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

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%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

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%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

A highly polymorphic region 3' to the human type II collagen gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

The genes encoding alpha 2(IX) collagen (COL9A2) map to human chromosome 1p32.3-p33 and mouse chromosome 4

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

Variability of Stickler syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

Identification of YAC clones for human chromosome 1p32 and physical mapping of the infantile neuronal ceroid lipofuscinosis (INCL) locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

Procollagen II Gene Mutation in Stickler Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

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%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

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%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

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%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

Human cartilage from late stage familial osteoarthritis transcribes type II collagen mRNA encoding a cysteine in position 519

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

Clinical correlations of osteoarthritis associated with a single-base mutation (arginine519 to cysteine) in type II procollagen gene. A newly defined pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

Medical genetics. Collagen and inherited connective tissue diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

R-banding and nonisotopic in situ hybridization: precise localization of the human type II collagen gene (COL2A1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

Genetic and clinical heterogeneity of Stickler syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981102%2980%3A1%3C6%3A%3AAID-AJMG2%3E3.0.CO%3B2-0

10.1002/(SICI)1096-8628(19981102)80:1<6::AID-AJMG2>3.0.CO;2-0

21 January 2018

Identifiers

DOI

1 reference

21 December 2017

PubMed ID

9800905

1 reference

21 December 2017