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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.
2007
2007
Glucose repression over Saccharomyces cerevisiae glycerol/H+ symporter gene STL1 is overcome by high temperature
2003
2003
Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene.
Highly Cited
2001
Highly Cited
2001
Auditory dysfunction in Stickler syndrome.
OBJECTIVES To characterize the natural history and possible mechanisms of hearing loss in Stickler syndrome (OMIM 108300; or… 
Review
1998
Review
1998
Genetics and hearing loss: a review of Stickler syndrome.
1997
1997
Fluctuation of treatment need for temporomandibular disorders and age, gender, stress, and diagnostic subgroup.
Associations between fluctuation of treatment need for temporomandibular disorders (TMD) and age, gender, stress, and diagnostic… 
Highly Cited
1991
Highly Cited
1991
Genetic and clinical heterogeneity of Stickler syndrome.
We have studied 6 multigeneration Stickler syndrome families. Manifestations of the syndrome in the families included myopia… 
1983
1983
Stickler syndrome: a cephalometric study of the face.
A lateral roentgencephalometric study to compare the facial morphology of 21 affected and 18 normal members of 8 families with… 
1977
1977
The Stickler syndrome (Hereditary arthro‐ophthalmopathy)
Three patients with Stickler syndrome are reported. Two of the patients were found among the 26 children attending a special pre… 
Review
1975
Review
1975
The Stickler syndrome (hereditary arthroophthalmopathy).
1963
1963
[Ophthalmo-dynamography as a method of evaluating brain circulation].
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