Stickler syndrome (disorder)

Known as: sticklers syndrome, arthro-ophthalmopathy, stickler's syndrome 
A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI… (More)
National Institutes of Health

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COL2A1 geneCOL2A1 wt AlleleHereditary Diseases

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Stickler syndrome, type 1

Papers overview

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2010
2010
Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations in different collagen genes. The aim of… (More)
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Highly Cited
2006
Highly Cited
2006
A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.
Stickler syndrome is characterized by ophthalmic, articular, orofacial, and auditory manifestations. It has an autosomal dominant… (More)
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2000
2000
COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes.
AIMS To compare the clinical and molecular genetic features of two phenotypically distinct subgroups of families with type 1… (More)
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Review
1999
Review
1999
Clinical and Molecular genetics of Stickler syndrome.
Stickler syndrome is an autosomal dominant disorder with characteristic ophthalmological and orofacial features, deafness, and… (More)
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Highly Cited
1999
Highly Cited
1999
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia… (More)
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1998
1998
Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.
Eye involvement has been considered a principal component feature in Stickler syndrome. However, families lacking eye involvement… (More)
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1998
1998
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome…
The original patient with the Weissenbacher-Zweymüller syndrome was analyzed for mutations in two candidate genes expressed in… (More)
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Highly Cited
1996
Highly Cited
1996
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.
Stickler syndrome (hereditary arthro-ophthalmopathy) is the commonest inherited cause of retinal detachment and one of the… (More)
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Highly Cited
1991
Highly Cited
1991
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).
Linkage analysis with restriction fragment length polymorphisms for the gene for type II procollagen (COL2A1) was carried out in… (More)
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1989
1989
Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene.
Hereditary arthro-ophthalmopathy (AO), or Stickler syndrome, is a dominantly inherited disorder characterized by vitreo-retinal… (More)
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