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Stickler syndrome, type 1

Known as: Hereditary Arthro-Ophthalmopathy, STL1, Stickler Syndrome 
National Institutes of Health

Related topics

Related topics

18 relations
ArachnodactylyArthropathyAutosomal dominant inheritanceCOL2A1, 1-BP DEL, EX40

Broader (5)

ArthritisConnective Tissue DiseasesRetinal DetachmentSensorineural Hearing Loss (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2011
Highly Cited
2011
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome
Stickler syndrome is characterized by ocular, auditory, skeletal, and orofacial abnormalities. We describe a family with… 
Highly Cited
2006
Highly Cited
2006
Femtosecond pulse shaping directly in the mid-IR using acousto-optic modulation.
Pulse shaping directly in the mid-IR is accomplished by using a germanium acousto-optic modulator (Ge AOM) capable of… 
Highly Cited
1998
Highly Cited
1998
Isolation and Characterization of Rhamnose-binding Lectins from Eggs of Steelhead Trout (Oncorhynchus mykiss) Homologous to Low Density Lipoprotein Receptor Superfamily*
Two l-rhamnose-binding lectins named STL1 and STL2 were isolated from eggs of steelhead trout (Oncorhynchus mykiss) by affinity… 
Highly Cited
1998
Highly Cited
1998
Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.
Highly Cited
1996
Highly Cited
1996
A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.
Hereditary progressive arthro-ophthalmopathy, or "Stickler syndrome," is an autosomal dominant osteochondrodysplasia… 
Highly Cited
1994
Highly Cited
1994
A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.
Stickler syndrome (hereditary arthro-ophthalmopathy) is caused by mutations in the structural gene for collagen type II (COL2A1… 
Highly Cited
1993
Highly Cited
1993
Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner…
A search for mutations in the gene for type II procollagen (COL2A1) was carried out in affected members of a family with early… 
Highly Cited
1992
Highly Cited
1992
Procollagen II gene mutation in Stickler syndrome.
Four affected members of a family with Stickler syndrome were found to have a single base-pair deletion resulting in a… 
Highly Cited
1987
Highly Cited
1987
The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen.
Review
1975
Review
1975
The Stickler syndrome (hereditary arthroophthalmopathy).
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