메뉴 건너뛰기




Volumn 29, Issue 2, 2009, Pages 159-162

Bruck syndrome: Osteogenesis imperfecta and arthrogryposis multiplex congenita

Author keywords

[No Author keywords available]

Indexed keywords

PAMIDRONIC ACID; PLOD2 PROTEIN, HUMAN; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE;

EID: 67650497779     PISSN: 02724936     EISSN: 14653281     Source Type: Journal    
DOI: 10.1179/146532809X440798     Document Type: Article
Times cited : (8)

References (19)
  • 1
    • 0024371444 scopus 로고
    • Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome)
    • Viljoen D, Versfeld G, Beighton P. Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome). Clin Genet 1989; 36:122-126 (Pubitemid 19186708)
    • (1989) Clinical Genetics , vol.36 , Issue.2 , pp. 122-126
    • Viljoen, D.1    Versfeld, G.2    Beighton, P.3
  • 2
    • 0010641392 scopus 로고
    • Ueber eine seltene Form von Erkrankung der Knochen und Gelenke
    • Bruck A. Ueber eine seltene Form von Erkrankung der Knochen und Gelenke. Dtsch Med Wschr 1897; 23:152-155
    • (1897) Dtsch Med Wschr , vol.23 , pp. 152-155
    • Bruck, A.1
  • 3
    • 2642627864 scopus 로고
    • Osteogenesis imperfecta with arthrogryposis multiplex congenita
    • Sharma NL, Anand JS. Osteogenesis imperfecta with arthrogryposis multiplex congenita. J Indian Med Assoc 1964; 43:124-126
    • (1964) J Indian Med Assoc , vol.43 , pp. 124-126
    • Sharma, N.L.1    Anand, J.S.2
  • 4
    • 0027175231 scopus 로고
    • Defective collagen fibril formation and mineralization in osteogenesis imperfecta with congenital joint contractures (Bruck syndrome)
    • DOI 10.1007/BF01955060
    • Brenner RE, Vetter U, Muller PK, Teller WM. Defective collagen fibril formation and mineralization in osteogenesis imperfecta with congenital joint contractures. Eur J Pediatr 1993; 152:505-508 (Pubitemid 23166188)
    • (1993) European Journal of Pediatrics , vol.152 , Issue.6 , pp. 505-508
    • Brenner, R.E.1    Vetter, U.2    Stoss, H.3    Muller, P.K.4    Teller, W.M.5
  • 5
    • 0030939546 scopus 로고    scopus 로고
    • Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): Review and report on the first north American case
    • DOI 10.1002/(SICI)1096-8628(19970502)70:1<28::AID-AJMG6>3.0.CO;2-N
    • McPherson E, Clemens M. Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): review and report on the first North American case. Am J Med Genet 1997; 70:28-31. (Pubitemid 27183872)
    • (1997) American Journal of Medical Genetics , vol.70 , Issue.1 , pp. 28-31
    • McPherson, E.1    Clemens, M.2
  • 6
    • 0030861559 scopus 로고    scopus 로고
    • Osteogenesis imperfecta with arthrogryposis multiplex congenita (Bruck syndrome): Evidence for possible autosomal recessive inheritance
    • Brady AF, Patton MA. Osteogenesis imperfecta with arthrogryposis multiplex congenita (Bruck syndrome): evidence for possible autosomal recessive inheritance. Clin Dysmorphol 1997; 6:329-336
    • (1997) Clin Dysmorphol , vol.6 , pp. 329-336
    • Brady, A.F.1    Patton, M.A.2
  • 9
    • 0031908848 scopus 로고    scopus 로고
    • Osteogenesis imperfecta with joint contractures: Bruck syndrome
    • DOI 10.1007/s002470050309
    • Blacksin MF, Fletcher BA, David M. Osteogenesis imperfecta with joint contractures: Bruck syndrome. Pediatr Radiol 1998; 28:117-119 (Pubitemid 28077450)
    • (1998) Pediatric Radiology , vol.28 , Issue.2 , pp. 117-119
    • Blacksin, M.F.1    Pletcher, B.A.2    David, M.3
  • 10
    • 28244502076 scopus 로고    scopus 로고
    • Bruck syndrome: Congenital joint contractures with bone fragility
    • DOI 10.1007/s00776-005-0958-9
    • Mokete L, Robertson A, Viljoen D, Beighton P. Bruck syndrome: congenital joint contractures with bone fragility. J Orthop Sci 2005; 10:641-646 (Pubitemid 41712714)
    • (2005) Journal of Orthopaedic Science , vol.10 , Issue.6 , pp. 641-646
    • Mokete, L.1    Robertson, A.2    Viljoen, D.3    Beighton, P.4
  • 13
    • 9644303423 scopus 로고    scopus 로고
    • Phenotypic and molecular characterization of Bruck syndrome (Osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2
    • DOI 10.1002/ajmg.a.30231
    • Ha-vinh R, Alanay Y, Bank RA, et al. Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. Am J Med Genet 2004; 131:115-120 (Pubitemid 39578341)
    • (2004) American Journal of Medical Genetics , vol.131 A , Issue.2 , pp. 115-120
    • Ha-Vinh, R.1    Alanay, Y.2    Bank, R.A.3    Campos-Xavier, A.B.4    Zankl, A.5    Superti-Furga, A.6    Bonafe, L.7
  • 14
    • 25644450719 scopus 로고    scopus 로고
    • Osteogenesis imperfecta
    • Behrman RE, Kliegman RM, Jenson HB, eds Philadelphia: Saunders
    • Marini JC. Osteogenesis imperfecta. In: Behrman RE, Kliegman RM, Jenson HB, eds. Nelson Textbook of Pediatrics, 17th edn. Philadelphia: Saunders, 2004; 2336-2338
    • (2004) Nelson Textbook of Pediatrics, 17th Edn , pp. 2336-2338
    • Marini, J.C.1
  • 15
    • 32244434805 scopus 로고    scopus 로고
    • Pediatric bone diseases
    • Pescovitz OH, Eugster EA, eds Philadelphia: Lippincott Williams & Wilkins
    • Dimeglio LA. Pediatric bone diseases. In: Pescovitz OH, Eugster EA, eds. Pediatric Endocrinology, Mechanisms, Manifestations and Management. Philadelphia: Lippincott Williams & Wilkins, 2004; 671-681
    • (2004) Pediatric Endocrinology, Mechanisms, Manifestations and Management , pp. 671-681
    • Dimeglio, L.A.1
  • 16
    • 0032772689 scopus 로고    scopus 로고
    • Differential expression of human lysyl hydroxylase genes, lysine hydroxylation, and cross-linking of type I collagen during osteoblastic differentiation in vitro
    • DOI 10.1359/jbmr.1999.14.8.1272
    • Uzawa K, Grzesik WJ, Nishiura T, et al. Differential expression of human lysyl hydroxylase genes, lysine hydroxylation and cross linking of type I collagen during osteoblastic differentiation in vitro. J Bone Miner Res 1999; 14:1272-1280 (Pubitemid 29368289)
    • (1999) Journal of Bone and Mineral Research , vol.14 , Issue.8 , pp. 1272-1280
    • Uzawa, K.1    Grzesik, W.J.2    Nishiura, T.3    Kuznetsov, S.A.4    Gehron Robey, P.5    Brenner, D.A.6    Yamauchi, M.7
  • 17
    • 17044454221 scopus 로고    scopus 로고
    • Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis
    • van der Slot AJ, Zuurmond AM, Bardoel AF, et al. Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis. J Biol Chem 2003; 278:40967-40972
    • (2003) J Biol Chem , vol.278 , pp. 40967-40972
    • Van Der Slot, A.J.1    Zuurmond, A.M.2    Bardoel, A.F.3
  • 18
    • 23244432404 scopus 로고    scopus 로고
    • Prenatal diagnosis of Bruck syndrome
    • Berg C, Geipel A, Noack F, et al. Prenatal diagnosis of Bruck syndrome. Prenat Diagn 2005; 25:535-538
    • (2005) Prenat Diagn , vol.25 , pp. 535-538
    • Berg, C.1    Geipel, A.2    Noack, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.