2001 Oct - Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED). {Relates to nonocular Stickler syndrome}

2001 Nov - Stickler's syndrome -- an underdiagnosed condition?

2002 Feb - The diagnosis and consequences of Stickler syndrome.

2002 Jan - Vitreous phenotype: genotype correlation in Stickler syndrome.

2002 July - Molecular genetics of rhegmatogenous retinal detachment.

2002 July - Prenatal diagnosis of Pierre-Robin sequence as part of Stickler syndrome.

2002 - Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome.

2002 Sept - Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome.

2002 - Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family.

1996 - PCR assay confirms diagnosis in syndrome with variably expressed phenotype

1996 - A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene

STICKLER SYNDROME, TYPE III Alternative titles; STICKLER SYNDROME, NONOCULAR TYPE

STICKLER SYNDROME, TYPE I; STL1 Alternative titles: STICKLER SYNDROME, VITREOUS TYPE 1 STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM

STICKLER SYNDROME, TYPE II; STL2 Alternative titles; STICKLER SYNDROME, VITREOUS TYPE 2 STICKLER SYNDROME, BEADED VITREOUS TYPE

GeneReviews - Stickler's Syndrome

Stickler's Articles  -  Diagnostics / Genetics

GeneReviews - Stickler's Syndrome

STICKLER SYNDROME, TYPE II; STL2 Alternative titles; STICKLER SYNDROME, VITREOUS TYPE 2 STICKLER SYNDROME, BEADED VITREOUS TYPE

STICKLER SYNDROME, TYPE I; STL1 Alternative titles: STICKLER SYNDROME, VITREOUS TYPE 1 STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM

STICKLER SYNDROME, TYPE III Alternative titles; STICKLER SYNDROME, NONOCULAR TYPE

1996 - A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene

1996 - PCR assay confirms diagnosis in syndrome with variably expressed phenotype

2002 - Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family.

2002 Sept - Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome.

2002 - Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome.

2002 July - Prenatal diagnosis of Pierre-Robin sequence as part of Stickler syndrome.

2002 July - Molecular genetics of rhegmatogenous retinal detachment.

2002 Jan - Vitreous phenotype: genotype correlation in Stickler syndrome.

2002 Feb - The diagnosis and consequences of Stickler syndrome.

This page was last updated on: April 15, 2006

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2001

2001 Nov - Stickler's syndrome -- an underdiagnosed condition?

2001 Oct - Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED). {Relates to nonocular Stickler syndrome}

1996

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