Stickler syndrome, type 1

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

Topic mentions per year

Topic mentions per year

1937-2018
051019372017

Papers overview

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2010
2010
Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations in different collagen genes. The aim of… (More)
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2008
2008
PURPOSE To report the prevalence of retinal detachment (RD) and results of prophylaxis against detachment from a giant retinal… (More)
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2006
2006
Stickler syndrome is characterized by ophthalmic, articular, orofacial, and auditory manifestations. It has an autosomal dominant… (More)
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Highly Cited
2005
Highly Cited
2005
Glycerol and other polyols are used as osmoprotectants by many organisms. Several yeasts and other fungi can take up glycerol by… (More)
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Highly Cited
2003
Highly Cited
2003
Exposure of Saccharomyces cerevisiae to increases in extracellular osmolarity activates the stress-activated Hog1 mitogen… (More)
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2000
2000
Stickler syndrome is a dominantly inherited disorder characterized by arthropathy, midline clefting, hearing loss, midfacial… (More)
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Highly Cited
1999
Highly Cited
1999
Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia… (More)
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Highly Cited
1996
Highly Cited
1996
Stickler syndrome (hereditary arthro-ophthalmopathy) is the commonest inherited cause of retinal detachment and one of the… (More)
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1993
1993
A search for mutations in the gene for type II procollagen (COL2A1) was carried out in affected members of a family with early… (More)
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1992
1992
Four affected members of a family with Stickler syndrome were found to have a single base-pair deletion resulting in a… (More)
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