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Volumn 134, Issue 5, 2002, Pages 746-748

Stickler syndrome: Clinical care and molecular genetics

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 2;

EID: 0036846732     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(02)01822-6     Document Type: Editorial
Times cited : (23)

References (20)
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  • 2
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    • Hereditary progressive arthro-ophthalmopathy. II. Additional observations on vertebral abnormalities, a hearing defect, and a report of a similar case
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  • 4
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  • 5
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  • 6
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    • Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): A survey
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  • 7
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    • Wagner H. Ein bisher unbekanntes Erbleiden des Auges (Degeneratio hyaloideo-retinalis hereditaria) beobachtet im Kanton Zurich. Klin Monatsbl Augenheilkd. 100:1938;840.
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  • 9
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  • 11
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  • 13
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    • Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)
    • Ahmad N.N., Ala-Kokko L., Knowlton R.G., et al. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci U S A. 88:1991;6624-6627.
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  • 14
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    • A to G transition at the 3-acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred
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  • 16
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    • A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen
    • Richards A.J., Yates J.R.W., Williams R. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. Hum Mol Genet. 5:1996;1339-1343.
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  • 17
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  • 18
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    • Donoso L.A., Edwards A.P., Frost A.T., et al. Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large Stickler syndrome family. Am J Ophthalmol. 134:2002;720-727.
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  • 19
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    • Radial perivascular retinal degeneration: A key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations
    • Parma E.S., Korkko J., Hagler W.S., Ala-Kokko L. Radial perivascular retinal degeneration a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations . Am J Ophthalmol. 134:2002;728-734.
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  • 20
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    • Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14
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    • Brown, D.M.1    Graemiger, R.A.2    Hergersberg, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.