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Hereditary progressive arthro-ophthalmopathy of Stickler.

作者信息

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

出版信息

Am J Ophthalmol. 1979 Nov;88(5):876-88. doi: 10.1016/0002-9394(79)90566-x.

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

摘要

相似文献

1
Hereditary progressive arthro-ophthalmopathy of Stickler.
Am J Ophthalmol. 1979 Nov;88(5):876-88. doi: 10.1016/0002-9394(79)90566-x.
2
Visual complications of Stickler syndrome in paediatric patients with Robin sequence.患有罗宾序列征的儿科患者中施特勒综合征的视觉并发症。
J Craniomaxillofac Surg. 2007 Mar;35(2):76-80. doi: 10.1016/j.jcms.2007.01.001. Epub 2007 Apr 18.
3
[Stickler's syndrome or hereditary progressive arthro-ophthalmopathy].[斯蒂克勒综合征或遗传性进行性关节眼病]
J Fr Ophtalmol. 1985;8(4):301-7.
4
Importance of early diagnosis of Stickler syndrome in newborns.早期诊断新生儿斯帝克综合征的重要性。
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COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes.COL2A1基因第2外显子突变:与斯-韦二氏综合征的相关性
Br J Ophthalmol. 2000 Apr;84(4):364-71. doi: 10.1136/bjo.84.4.364.
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The Stickler syndrome (hereditary arthroophthalmopathy).斯-韦二氏综合征(遗传性关节眼病)。
Birth Defects Orig Artic Ser. 1975;11(2):76-103.
7
Stickler's syndrome (hereditary progressive arthro-ophthalmopathy).斯蒂克勒综合征(遗传性进行性关节眼病)。
Can Med Assoc J. 1974 Nov 16;111(10):1071-6.
8
[Stickler syndrome].[斯蒂克勒综合征]
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9
The Wagner-Stickler syndrome.
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10
A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.IVS17的3' 剪接受体位点处的A-2至G转换是原始Stickler综合征家族中COL2A1基因突变的特征。
Am J Med Genet. 1996 Jun 14;63(3):461-7. doi: 10.1002/(SICI)1096-8628(19960614)63:3<461::AID-AJMG9>3.0.CO;2-U.

引用本文的文献

1
Analysis of the vitreous membrane in a case of type 1 Stickler syndrome.1型斯蒂克勒综合征一例的玻璃体膜分析
Graefes Arch Clin Exp Ophthalmol. 2009 May;247(5):715-8. doi: 10.1007/s00417-008-1016-z. Epub 2008 Dec 17.
2
Retinal detachment in identical twins with Stickler syndrome type 1.1型Stickler综合征同卵双胞胎中的视网膜脱离
Br J Ophthalmol. 1996 Nov;80(11):976-81. doi: 10.1136/bjo.80.11.976.
3
PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome.聚合酶链反应(PCR)检测可确诊具有可变表达表型的综合征:斯蒂克勒综合征的突变检测
J Med Genet. 1996 Aug;33(8):678-81. doi: 10.1136/jmg.33.8.678.
4
A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.导致斯-利二氏综合征(关节-眼病)的II型胶原蛋白基因(COL2AI)中的第二个突变也是一个提前终止密码子。
Am J Hum Genet. 1993 Jan;52(1):39-45.
5
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).II型胶原蛋白(COL2A1)发生突变,用天冬氨酸替代α1-67位的甘氨酸,导致白内障和视网膜脱离:Wagner综合征和Stickler综合征(关节眼病)分子异质性的证据。
Am J Hum Genet. 1993 Jul;53(1):55-61.
6
Hereditary vitreoretinal dystrophy associated with peripheral neuropathy.
Graefes Arch Clin Exp Ophthalmol. 1994 Jun;232(6):330-6. doi: 10.1007/BF00175984.
7
Chorioretinal dysplasia in young subjects with Wagner's hereditary vitreoretinal degeneration.
Int Ophthalmol. 1981 Mar;3(2):67-77. doi: 10.1007/BF00133417.
8
The Wagner-Stickler syndrome complex.
Doc Ophthalmol. 1981 Dec 16;52(2):179-88. doi: 10.1007/BF01675204.
9
Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina.显性渗出性玻璃体视网膜病变及周边视网膜其他血管发育异常。
Doc Ophthalmol. 1982 Sep 23;54(1-4):1-414. doi: 10.1007/BF00183127.
10
The Marshall and Stickler syndromes: objective rejection of lumping.马歇尔综合征和斯蒂克勒综合征:反对笼统归类的客观依据
J Med Genet. 1984 Feb;21(1):34-8. doi: 10.1136/jmg.21.1.34.