Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
All COL2A1 mutations known to cause Stickler syndrome result in the formation of a premature termination codon within the type-II collagen gene.
|
10982970 |
2000 |
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A p.R904C variant of the COL2A1 gene was found in a patient, who was accordingly diagnosed with Stickler syndrome.
|
30541462 |
2018 |
Stickler syndrome, type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
We have performed linkage analysis in a large Dutch kindred with a Stickler syndrome phenotype that was unlinked to COL2A1.
|
7833911 |
1994 |
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The mutation is the fourth mutation in the COL2A1 gene shown to cause the Stickler syndrome.
|
8406454 |
1993 |
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In contrast, the Arg453Ter mutation and other protein-truncating mutations in the helical domain of COL2A1 have been associated until now with classic Stickler syndrome.
|
12939326 |
2003 |
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
40:433-455, 1965] and resembled the phenotype of the previously reported individuals or families with Stickler syndrome in which a dominant mutation in the COL2A1 gene has been identified.
|
9805127 |
1998 |
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in alternatively spliced retina-specific exons of the widely expressed RPGR and COL2A1 genes lead primarily to X-linked RP and ocular variants of Stickler syndrome, respectively.
|
23647439 |
2013 |
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.
|
7977371 |
1994 |
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Null-allele mutations in the COL2A1 gene led to a typical phenotype of Stickler syndrome.
|
10486316 |
1999 |
Stickler syndrome, type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
In a third AO family, however, recombination between AO and COL2A1 occurred in at least one meiosis, and the data were inconclusive with respect to linkage.
|
2573273 |
1989 |
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Thirteen patients aged 10-62y were included, twelve of whom had type 1 Stickler syndrome (COL2A1 mutation) and one type 2 Stickler syndrome (COL11A1 mutation).
|
27193475 |
2016 |
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we characterize novel dominant negative mutations in COL2A1 that result in Stickler syndrome.
|
11007540 |
2000 |
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe here two mutations in exon 2 of COL2A1 in three patients with predominantly ocular Stickler syndrome: Cys64Stop in two patients, and a novel structural mutation, Cys57Tyr, in one patient.
|
17721977 |
2008 |
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Here we characterize novel dominant negative mutations in COL2A1 that result in Stickler syndrome.
|
11007540 |
2000 |
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The study represents the first evidence of abnormal interactions between pathological vitreous collagen and the inner retina in a patient with type 1 Stickler syndrome with a confirmed mutation in the COL2A1 gene.
|
16327798 |
2006 |
Stickler syndrome, type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Genetic investigations were also performed, considering three candidate loci for Stickler syndrome and Wagner syndrome (COL2A1, COL11A1, WGN1).
|
11450497 |
2001 |
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report three Caucasian children with: (a) ocular, oral, facial, auditory, and musculoskeletal manifestations of Stickler syndrome type 1; (b) history of generalized and/or partial seizures coupled with abnormal electroencephalographic records; and (c) pathogenic heterozygous mutations of the COL2A1 gene.
|
25809783 |
2015 |
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
No basic defect has been found in patients with Kniest dysplasia, whereas Stickler dysplasia is one of four chondrodysplasias for which mutations of type II procollagen gene (COL2A1) have been identified.
|
7981752 |
1993 |
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular confirmation of COL2A1 mutation status (type I Stickler syndrome) was available on 25 patients from six families.
|
16152640 |
2005 |
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Amplification of the COL2A1 3' variable region used for segregation analysis in a family with the Stickler syndrome.
|
1977683 |
1990 |
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
COL2A1 mutations causing haploinsufficiency of type II collagen cause type 1 Stickler syndrome that has a high risk of retinal detachment and failure of the vitreous to develop normally.
|
27406592 |
2016 |
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have found crossovers between the disease locus and COL2A1 in 2 families with Stickler syndrome.
|
1683158 |
1991 |
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A variant of Stickler syndrome, caused by mutations in exon 2 of COL2A1, may present in families with all of the ocular findings and no clinically identifiable extraocular findings associated with Stickler syndrome.
|
12429250 |
2002 |
Stickler syndrome, type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.
|
18276201 |
2008 |