|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations.
|
30130436 |
2018 |
|
Stickler syndrome (disorder)
|
0.200 |
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 (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The findings of the current study expand the established mutation spectrum of COL2A1, and may facilitate genetic counseling and development of therapeutic strategies for patients with Stickler syndrome.
|
30015854 |
2018 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
All of the patients had mutations in the COL2A1 gene and were diagnosed with Stickler syndrome.
|
28283280 |
2017 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea.
|
26709265 |
2016 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In this study, three novel and two known mutations in the COL2A1 gene were identified in six of 16 Chinese patients with Stickler syndrome.
|
27390512 |
2016 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Patient 2 presented with arthrogryposis that was correlated with his mother's habitus and arthritis once COL2A1 mutations suggestive of Stickler syndrome were defined.
|
24664531 |
2014 |
|
Stickler syndrome (disorder)
|
0.200 |
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 (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To our knowledge, neither non-penetrance nor mosaicism for COL2A1 mutations has been reported for Stickler syndrome.
|
22522174 |
2012 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The absence of non-ocular features of Stickler syndrome should raise the possibility of mutations in exon 2 of COL2A1.
|
22574936 |
2012 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation.
|
21777803 |
2011 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We developed a simple and noninvasive strategy for identifying the COL2A1 mutation using RNA from freshly isolated peripheral white blood cells and identified a new 3' splice site mutation in a Japanese family with Stickler syndrome.
|
21186996 |
2011 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
|
20513134 |
2010 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Polymorphisms at COL2A1 encoding type II collagen, previously associated with Stickler syndrome, associated only with ocular disease in congenital toxoplasmosis.
|
19430638 |
2009 |
|
Stickler syndrome (disorder)
|
0.200 |
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 (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These diseases include Stickler syndrome types I (STL1) and II (STL2), usually caused by mutations in COL2A1 and COL11A1 respectively.
|
18309337 |
2008 |
|
Stickler syndrome (disorder)
|
0.200 |
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 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms.
|
17437277 |
2007 |
|
Stickler syndrome (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
A series of 44 unrelated patients in whom COL2A1 screening demonstrated normal results but whose phenotype was nevertheless highly suggestive of either Stickler syndrome (with ocular involvement) or Marshall syndrome were investigated for mutations in the COL11A1 gene.
|
17236192 |
2007 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Arginine to cysteine mutations are rather infrequent COL2A1 mutations which cause a spectrum of phenotypes including classic SEDC and Stickler dysplasia, but also some unusual entities that have not yet been recognised and described as type II collagenopathies.
|
16155195 |
2006 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Clinical examination of the family and linkage analysis using markers flanking COL2A1 and COL11A1, the known loci for Stickler syndrome; mutation screening of COL2A1; construction of splicing reporter minigenes and transfection into cultured cells; and RT-PCR analysis of reporter specific transcripts.
|
15671297 |
2005 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene.
|
12686304 |
2003 |
|
Stickler syndrome (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene.
|
12511349 |
2003 |
|
Stickler syndrome (disorder)
|
0.200 |
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 (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome.
|
12204008 |
2002 |