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Volumn 77, Issue 1, 1998, Pages 31-37

Ehlers-danlos syndromes: Revised nosology, Villefranche, 1997

Author keywords

Arterial rupture; Diagnosis; Ehlers Danlos syndromes; Heritable disorders of connective tissue; Joint hypermobility; Skin extensibility; Tissue fragility

Indexed keywords

ARTICLE; CLINICAL FEATURE; DISEASE CLASSIFICATION; EHLERS DANLOS SYNDROME; INHERITANCE; PHENOTYPE; PRIORITY JOURNAL;

EID: 0032574641     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O     Document Type: Article
Times cited : (1446)

References (25)
  • 1
    • 0018898910 scopus 로고
    • A new form of Ehlers-Danlos syndrome. Fibronectin corrects defective platelet function
    • Arneson MA, Hammerschmidt DE, Furcht LT, King RA (1980): A new form of Ehlers-Danlos syndrome. Fibronectin corrects defective platelet function. JAMA 244:144-147.
    • (1980) JAMA , vol.244 , pp. 144-147
    • Arneson, M.A.1    Hammerschmidt, D.E.2    Furcht, L.T.3    King, R.A.4
  • 2
    • 0004157470 scopus 로고
    • London: William Heinemann Medical Books
    • Beighton P (1970): "The Ehlers-Danlos Syndrome." London: William Heinemann Medical Books, pp 1-194.
    • (1970) The Ehlers-Danlos Syndrome , pp. 1-194
    • Beighton, P.1
  • 4
    • 0021826377 scopus 로고
    • X-linked Ehlers-Danlos syndrome type V: The next generation
    • Beighton P, Curtis D (1985): X-linked Ehlers-Danlos syndrome type V: The next generation. Clin Genet 27:472-478.
    • (1985) Clin Genet , vol.27 , pp. 472-478
    • Beighton, P.1    Curtis, D.2
  • 5
    • 0014491335 scopus 로고
    • Surgical aspects of the Ehlers-Danlos syndrome. A survey of 100 cases
    • Beighton P, Horan FT (1960): Surgical aspects of the Ehlers-Danlos syndrome. A survey of 100 cases. Br J Surg 56:255-259.
    • (1960) Br J Surg , vol.56 , pp. 255-259
    • Beighton, P.1    Horan, F.T.2
  • 6
    • 0014556741 scopus 로고
    • Orthopaedic aspects of the Ehlers-Danlos syndrome
    • Beighton P, Horan F (1969): Orthopaedic aspects of the Ehlers-Danlos syndrome. J Bone Joint Surg [Br] 51:444-453.
    • (1969) J Bone Joint Surg [Br] , vol.51 , pp. 444-453
    • Beighton, P.1    Horan, F.2
  • 9
    • 0023261492 scopus 로고
    • Diagnosis and classification of severity of mitral valve prolapse: Methodologic, biologic and prognostic considerations
    • Devereux RB, Kramer-Fox R, Shear MK, Kligfield P, Pini R, Savage DD (1987): Diagnosis and classification of severity of mitral valve prolapse: Methodologic, biologic and prognostic considerations. Am Heart J 113:1265-1280.
    • (1987) Am Heart J , vol.113 , pp. 1265-1280
    • Devereux, R.B.1    Kramer-Fox, R.2    Shear, M.K.3    Kligfield, P.4    Pini, R.5    Savage, D.D.6
  • 10
    • 0028220223 scopus 로고
    • Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I-IV as a means of diagnostics and classification
    • Hausser I, Anton-Lamprecht I (1994): Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I-IV as a means of diagnostics and classification. Hum Genet 93:394-407.
    • (1994) Hum Genet , vol.93 , pp. 394-407
    • Hausser, I.1    Anton-Lamprecht, I.2
  • 11
    • 0018890601 scopus 로고
    • The spectrum of cardiac defects in the Ehlers-Danlos syndrome, types I and III
    • Leier CV, Call TD, Fulkerson PK, Wooley CF (1980): The spectrum of cardiac defects in the Ehlers-Danlos syndrome, types I and III. Ann Intern Med 92:171-178.
    • (1980) Ann Intern Med , vol.92 , pp. 171-178
    • Leier, C.V.1    Call, T.D.2    Fulkerson, P.K.3    Wooley, C.F.4
  • 13
    • 0002501205 scopus 로고
    • Natural history of Ehlers-Danlos syndrome type IV (EDS type IV): Review of 137 cases
    • Pepin MG, Superti-Furga A, Byers PH (1992): Natural history of Ehlers-Danlos syndrome type IV (EDS type IV): Review of 137 cases. Am J Hum Genet 51:44.
    • (1992) Am J Hum Genet , vol.51 , pp. 44
    • Pepin, M.G.1    Superti-Furga, A.2    Byers, P.H.3
  • 14
    • 0024396654 scopus 로고
    • Two-dimensional aortic root dimensions in normal children and adults
    • Roman MJ, Devereux RB, Kramer-Fox R, O'Ranghlin J (1989): Two-dimensional aortic root dimensions in normal children and adults. Am J Cardiol 64:507-512.
    • (1989) Am J Cardiol , vol.64 , pp. 507-512
    • Roman, M.J.1    Devereux, R.B.2    Kramer-Fox, R.3    O'Ranghlin, J.4
  • 15
    • 0027375360 scopus 로고
    • The prognostic significance of the pattern of aortic root dilatation in the Marfan syndrome
    • Roman MJ, Rosen SS, Kramer-Fox R, Devereaux RB (1993): The prognostic significance of the pattern of aortic root dilatation in the Marfan syndrome. J Am Coll Cardiol 22:1470-1476.
    • (1993) J Am Coll Cardiol , vol.22 , pp. 1470-1476
    • Roman, M.J.1    Rosen, S.S.2    Kramer-Fox, R.3    Devereaux, R.B.4
  • 16
    • 0025254473 scopus 로고
    • Brittle cornea syndrome: A heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair and normal collagen lysyl hydroxylation
    • Royce PM, Steinmann B, Vogel A, Steinhorst U, Kohlschuetter A (1990): Brittle cornea syndrome: A heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair and normal collagen lysyl hydroxylation. Eur J Pediatr 149:465-469.
    • (1990) Eur J Pediatr , vol.149 , pp. 465-469
    • Royce, P.M.1    Steinmann, B.2    Vogel, A.3    Steinhorst, U.4    Kohlschuetter, A.5
  • 19
    • 0024452679 scopus 로고
    • Ehlers-Danlos syndrome type IV: A subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen
    • Steinmann B, Superti-Furga A, Joller-Jemelka HJ, Cetta G, Byers PH (1989): Ehlers-Danlos syndrome type IV: A subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen. Am J Med Genet 34:68-71.
    • (1989) Am J Med Genet , vol.34 , pp. 68-71
    • Steinmann, B.1    Superti-Furga, A.2    Joller-Jemelka, H.J.3    Cetta, G.4    Byers, P.H.5
  • 21
    • 0028841268 scopus 로고
    • Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI
    • Steinmann B, Eyre DR, Shao P (1995): Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI. Am J Hum Genet 57:1505-1508.
    • (1995) Am J Hum Genet , vol.57 , pp. 1505-1508
    • Steinmann, B.1    Eyre, D.R.2    Shao, P.3
  • 22
    • 0017662443 scopus 로고
    • A New Variant of Ehlers-Danlos Syndrome: An Autosomal Dominant Disorder of Fragile Skin, Abnormal Scarring and Generalized Periodontitis
    • Stewart RE, Hollister DW, Rimoin DL (1977): A New Variant of Ehlers-Danlos Syndrome: An Autosomal Dominant Disorder of Fragile Skin, Abnormal Scarring and Generalized Periodontitis. BD: OAS XIII (3B):85-93.
    • (1977) BD: OAS , vol.13 , Issue.3 B , pp. 85-93
    • Stewart, R.E.1    Hollister, D.W.2    Rimoin, D.L.3
  • 23
    • 0018417480 scopus 로고
    • Abnormal collagen fibril structure in the gravis form (type I) of the Ehlers-Danlos syndrome
    • Vogel A, Holbrook KA, Steinmann B, Gitzelmann R, Byers PH (1979): Abnormal collagen fibril structure in the gravis form (type I) of the Ehlers-Danlos syndrome. Lab Invest 40:201-206.
    • (1979) Lab Invest , vol.40 , pp. 201-206
    • Vogel, A.1    Holbrook, K.A.2    Steinmann, B.3    Gitzelmann, R.4    Byers, P.H.5
  • 24
    • 0024426610 scopus 로고
    • Ehlers-Danlos syndrome type VI: Clinical manifestations of collagen lysyl hydroxylase deficiency
    • Wenstrup RJ, Murad S, Pinnell SR (1989): Ehlers-Danlos syndrome type VI: Clinical manifestations of collagen lysyl hydroxylase deficiency. J Pediatr 115:405-409.
    • (1989) J Pediatr , vol.115 , pp. 405-409
    • Wenstrup, R.J.1    Murad, S.2    Pinnell, S.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.