Literature DB >> 4621768

The Stickler syndrome.

J M Opitz, T France, J Herrmann, J W Spranger.   

Abstract

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Year:  1972        PMID： 4621768     DOI： 10.1056/NEJM197203092861020

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  18 in total

1.  PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome.

Authors:  N N Ahmad; D M McDonald-McGinn; P Dixon; E H Zackai; W S Tasman
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

2.  Stickler's syndrome and neovascular glaucoma.

Authors:  N J Young; R A Hitchings; K Sehmi; A C Bird
Journal:  Br J Ophthalmol       Date:  1979-12       Impact factor: 4.638

3.  Stickler's syndrome.

Authors:  I K Temple
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

Review 4.  Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.

Authors:  John D Gettelfinger; John P Dahl
Journal:  J Pediatr Genet       Date:  2018-01-04

5.  Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).

Authors:  N N Ahmad; L Ala-Kokko; R G Knowlton; S A Jimenez; E J Weaver; J I Maguire; W Tasman; D J Prockop
Journal:  Proc Natl Acad Sci U S A       Date:  1991-08-01       Impact factor: 11.205

6.  Molecular heterogeneity: a clinical dilemma. Clinical heterogeneity: a molecular dilemma.

Authors:  M Godfrey
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

Review 7.  The Wagner-Stickler syndrome complex.

Authors:  V Godel; P Nemet; M Lazar
Journal:  Doc Ophthalmol       Date:  1981-12-16       Impact factor: 2.379

8.  Osteochondritis dissecans and Osgood Schlatter disease in a family with Stickler syndrome.

Authors:  Ali Al Kaissi; Klaus Klaushofer; Franz Grill
Journal:  Pediatr Rheumatol Online J       Date:  2009-02-04       Impact factor: 3.054

9.  Hereditary vitreoretinal dystrophy associated with peripheral neuropathy.

Authors:  A Ettl; S Felber; C Kunze; C Schmidauer; B Utermann; A Daxer; W Göttinger
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1994-06       Impact factor: 3.117

Review 10.  A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.

Authors:  N N Ahmad; D M McDonald-McGinn; E H Zackai; R G Knowlton; D LaRossa; J DiMascio; D J Prockop
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025
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