Literature DB >> 507166

Hereditary progressive arthro-ophthalmopathy of Stickler.

N P Blair, D M Albert, R M Liberfarb, T Hirose.   

Abstract

The ocular histopathologic findings in three patients with the Stickler syndrome from two families included the following: total retinal detachment with marked folding, disorganization of the retina, and a preretinal membrane. The progression of the fundus lesions was followed up in two patients during the course of 30 and 24 years. Many cases variously reported as Wagner's disease, familial retinal detachment, hyaloideoretinopathy with cleft palate, and the Pierre Robin syndrome probably were the Stickler syndrome.

Entities:  

Mesh：

Year:  1979        PMID： 507166     DOI： 10.1016/0002-9394(79)90566-x

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN： 0002-9394            Impact factor:   5.258


  13 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.  Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene.

Authors:  R G Knowlton; E J Weaver; A F Struyk; W H Knobloch; R A King; K Norris; A Shamban; J Uitto; S A Jimenez; D J Prockop
Journal:  Am J Hum Genet       Date:  1989-11       Impact factor: 11.025

3.  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

4.  The Marshall and Stickler syndromes: objective rejection of lumping.

Authors:  S Aymé; M Preus
Journal:  J Med Genet       Date:  1984-02       Impact factor: 6.318

5.  Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina.

Authors:  C E van Nouhuys
Journal:  Doc Ophthalmol       Date:  1982-09-23       Impact factor: 2.379

Review 6.  The Wagner-Stickler syndrome complex.

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

7.  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

8.  Analysis of the vitreous membrane in a case of type 1 Stickler syndrome.

Authors:  Tadashi Yokoi; Ryouhei Koide; Kentaro Matsuoka; Atsuko Nakagawa; Noriyuki Azuma
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2008-12-17       Impact factor: 3.117

Review 9.  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

10.  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 syndrome and the Stickler syndrome (arthro-ophthalmopathy)

Authors:  J Körkkö; P Ritvaniemi; L Haataja; H Kääriäinen; K I Kivirikko; D J Prockop; L Ala-Kokko
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.