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Volumn 68, Issue 2, 1997, Pages 121-126

Marshall-Stickler phenotype associated with von Willebrand disease

Author keywords

bleeding diathesis; chromosome 12; coagulopathy; Marshall Stickler syndrome; platelet aggregation; von Willebrand disease

Indexed keywords

VON WILLEBRAND FACTOR;

EID: 0031049769     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970120)68:2<121::AID-AJMG1>3.0.CO;2-S     Document Type: Article
Times cited : (9)

References (26)
  • 2
    • 0027404775 scopus 로고
    • A second mutation in the type II procollagen gene (COL2A1) causing Stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon
    • Ahmad NN, McDonald-McGinn DM, Zackai EH, Knowlton RG, LaRossa D, DiMascio J, Prockop DJ (1993): A second mutation in the type II procollagen gene (COL2A1) causing Stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon. Am J Hum Genet 52:39-45.
    • (1993) Am J Hum Genet , vol.52 , pp. 39-45
    • Ahmad, N.N.1    McDonald-McGinn, D.M.2    Zackai, E.H.3    Knowlton, R.G.4    Larossa, D.5    DiMascio, J.6    Prockop, D.J.7
  • 3
    • 0027398579 scopus 로고
    • A role for von Willebrand factor proline residues 702-704 in ristocetin-mediated binding to platelet glycoprotein 1b
    • Azuma H, Sugimoto M, Ruggeri Z, Ware J (1993): A role for von Willebrand factor proline residues 702-704 in ristocetin-mediated binding to platelet glycoprotein 1b. Thromb Haemost 69:192-196.
    • (1993) Thromb Haemost , vol.69 , pp. 192-196
    • Azuma, H.1    Sugimoto, M.2    Ruggeri, Z.3    Ware, J.4
  • 6
    • 0024438623 scopus 로고
    • Mitral valve prolapse and Willebrand disease. Study of 16 cases of Willebrand disease
    • Paris
    • Chevallier B, Bidat E, Aurousseau MH, Gaudelus J, Perelman R (1989): Mitral valve prolapse and Willebrand disease. Study of 16 cases of Willebrand disease. Ann Pediatr (Paris) 36:435-438.
    • (1989) Ann Pediatr , vol.36 , pp. 435-438
    • Chevallier, B.1    Bidat, E.2    Aurousseau, M.H.3    Gaudelus, J.4    Perelman, R.5
  • 11
    • 0026672080 scopus 로고
    • Biology of inherited coagulopathies: Von Willebrand factor
    • Ginsburg D (1992): Biology of inherited coagulopathies: Von Willebrand factor. Hematol Oncol Clin North Am 6:1011-1020.
    • (1992) Hematol Oncol Clin North Am , vol.6 , pp. 1011-1020
    • Ginsburg, D.1
  • 12
    • 0027500241 scopus 로고
    • Von Willebrand disease: A database of point mutations, insertions, and deletions. for the Consortium on von Willebrand Factor Mutations and Polymorphisms, and the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Hemostasis
    • Ginsburg D, Sadler JE (1993): Von Willebrand disease: A database of point mutations, insertions, and deletions. For the Consortium on von Willebrand Factor Mutations and Polymorphisms, and the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Hemostasis. Thromb Haemost 69:177-184.
    • (1993) Thromb Haemost , vol.69 , pp. 177-184
    • Ginsburg, D.1    Sadler, J.E.2
  • 13
    • 0021844825 scopus 로고
    • Human von Willebrand factor (vWF): Isolation of complementary DNA (CDNA) clones and chromosomal localization
    • Ginsburg D, Handin RI, Bonthron DT, Donlon TA, Bruns GAP, Latt SA, Orkin SH (1985): Human von Willebrand factor (vWF): Isolation of complementary DNA (CDNA) clones and chromosomal localization. Science 228:1401-1406.
    • (1985) Science , vol.228 , pp. 1401-1406
    • Ginsburg, D.1    Handin, R.I.2    Bonthron, D.T.3    Donlon, T.A.4    Bruns, G.A.P.5    Latt, S.A.6    Orkin, S.H.7
  • 14
    • 0025344855 scopus 로고
    • Studies on von Willebrand factor antigen in endothelial cells and sera of patients with connective tissue diseases
    • Kida S (1990): Studies on von Willebrand factor antigen in endothelial cells and sera of patients with connective tissue diseases. Ryumachi 30:17-25.
    • (1990) Ryumachi , vol.30 , pp. 17-25
    • Kida, S.1
  • 15
    • 0027365381 scopus 로고
    • Mutation in type II procollagen (COL2A1) that substitutes asparate 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)
    • Körkkö J, Ritvaniemi P, Haataja L, Kääriäinen H, Kivirikko KI, Prockop DJ, Ala-Kokko L (1993): Mutation in type II procollagen (COL2A1) that substitutes asparate 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). Am J Hum Genet 53:55-61.
    • (1993) Am J Hum Genet , vol.53 , pp. 55-61
    • Körkkö, J.1    Ritvaniemi, P.2    Haataja, L.3    Kääriäinen, H.4    Kivirikko, K.I.5    Prockop, D.J.6    Ala-Kokko, L.7
  • 17
    • 0022450605 scopus 로고
    • Prevalence of mitral valve prolapse in the Stickler syndrome
    • Lieberfarb RM, Goldblatt A (1986): Prevalence of mitral valve prolapse in the Stickler syndrome. Am J Med Genet 24:387-392.
    • (1986) Am J Med Genet , vol.24 , pp. 387-392
    • Lieberfarb, R.M.1    Goldblatt, A.2
  • 19
    • 0010281939 scopus 로고
    • Heritable and developmental disorders of connective tissue and bone
    • McCarty DJ (ed): Philadelphia: Lea & Febiger
    • Pyeritz RE (1989): Heritable and developmental disorders of connective tissue and bone. In McCarty DJ (ed): "Arthritis and Allied Conditions: A Textbook of Rheumatology." Philadelphia: Lea & Febiger, pp 1332-1359.
    • (1989) Arthritis and Allied Conditions: A Textbook of Rheumatology , pp. 1332-1359
    • Pyeritz, R.E.1
  • 20
    • 0027181410 scopus 로고
    • A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: Analysis of the COL2A1 gene by denaturing gradient gel electrophoresis
    • Ritvaniemi P, Hyland J, Ignatius J, Kivivikko KI, Prockop DJ, Ala-Kokko L (1993): A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: Analysis of the COL2A1 gene by denaturing gradient gel electrophoresis. Genomics 17:218-221.
    • (1993) Genomics , vol.17 , pp. 218-221
    • Ritvaniemi, P.1    Hyland, J.2    Ignatius, J.3    Kivivikko, K.I.4    Prockop, D.J.5    Ala-Kokko, L.6
  • 21
    • 0024499055 scopus 로고
    • Stickler's syndrome
    • Temple IK (1989): Stickler's syndrome. J Med Genet 26:119-126.
    • (1989) J Med Genet , vol.26 , pp. 119-126
    • Temple, I.K.1
  • 22
    • 0027112792 scopus 로고
    • Coexistence of von Willebrand's disease with mitral valve prolapse
    • Uniskiewicz B, Kuczewska-Stanecka K (1992): Coexistence of von Willebrand's disease with mitral valve prolapse. Pol Tyg Lek 47: 927-929.
    • (1992) Pol Tyg Lek , vol.47 , pp. 927-929
    • Uniskiewicz, B.1    Kuczewska-Stanecka, K.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.