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Clinical Rheumatology
Volumn 29, Issue 7, 2010, Pages 795-797
Adult presentation of Stickler syndrome type III
Author keywords

Adult presentation; Genetics; Osteoarthritis; Otospondylomegaepiphyseal dysplasia; Stickler syndrome
Indexed keywords

HYDROXYCHLOROQUINE; PIROXICAM; PREDNISONE;
EID: 77956262947     PISSN: 07703198     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10067-010-1382-x     Document Type: Article
Times cited : (9)
References (6)
  • 1
    • 44349172432 scopus 로고    scopus 로고
    • Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene
    • Avcin T, Makitie O, Susic M, Miller S, Thorne C, Tenenbaum J et al (2008) Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene. J Rheumatol 35(5):920-926
    • (2008) J. Rheumatol. , vol.35 , Issue.5 , pp. 920-926
    • Avcin, T.1    Makitie, O.2    Susic, M.3    Miller, S.4    Thorne, C.5    Tenenbaum, J.6
  • 2
    • 0035746629 scopus 로고    scopus 로고
    • Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): A survey
    • Stickler GB, Hughes W, Houchin P (2001) Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): a survey. Genet Med 3(3):192-196
    • (2001) Genet. Med. , vol.3 , Issue.3 , pp. 192-196
    • Stickler, G.B.1    Hughes, W.2    Houchin, P.3
  • 3
    • 33846809282 scopus 로고    scopus 로고
    • A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies
    • Majava M, Hoornaert KP, Bartholdi D, Bouma MC, Bouman K, Carrera M et al (2007) A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. Am J Med Genet A 143(3):258-264
    • (2007) Am. J. Med. Genet. A , vol.143 , Issue.3 , pp. 258-264
    • Majava, M.1    Hoornaert, K.P.2    Bartholdi, D.3    Bouma, M.C.4    Bouman, K.5    Carrera, M.6
  • 4
    • 0031890446 scopus 로고    scopus 로고
    • Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2 (XI) chain of type XI collagen
    • Sirko-Osadsa DA, Murray MA, Scott JA, Lavery MA, Warman ML, Robin NH (1998) Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2 (XI) chain of type XI collagen. J Pediatr 132(2):368-371
    • (1998) J. Pediatr. , vol.132 , Issue.2 , pp. 368-371
    • Sirko-Osadsa, D.A.1    Murray, M.A.2    Scott, J.A.3    Lavery, M.A.4    Warman, M.L.5    Robin, N.H.6
  • 5
    • 0030958929 scopus 로고    scopus 로고
    • Oto-spondylo-megaepiphyseal dysplasia (OSMED): Clinical description of three patients homozygous for a missense mutation in the COL11A2 gene
    • van Steensel MA, Buma P, de Waal Malefijt MC, van den Hoogen FH, Brunner HG (1997) Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene. Am J Med Genet 70(3):315-323
    • (1997) Am. J. Med. Genet. , vol.70 , Issue.3 , pp. 315-323
    • Van Steensel, M.A.1    Buma, P.2    De Waal Malefijt, M.C.3    Van Den Hoogen, F.H.4    Brunner, H.G.5
  • 6
    • 4644306883 scopus 로고    scopus 로고
    • A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome
    • Vuoristo MM, Pappas JG, Jansen V, Ala-Kokko L (2004) A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome. Am JMed Genet A 130 A (2):160-164
    • (2004) Am. JMed Genet. A , vol.130 A , Issue.2 , pp. 160-164
    • Vuoristo, M.M.1    Pappas, J.G.2    Jansen, V.3    Ala-Kokko, L.4

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.