메뉴 건너뛰기




Volumn 18, Issue 1, 1999, Pages 48-51

Type I osteogenesis imperfecta: Diagnostic difficulties

Author keywords

Diagnosis in osteoporosis; Osteogenesis imperfecta; Osteoporosis

Indexed keywords

COLLAGEN;

EID: 0033009032     PISSN: 07703198     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100670050052     Document Type: Article
Times cited : (13)

References (16)
  • 1
    • 0018267089 scopus 로고
    • Classification of osteogenesis imperfecta
    • Sillence DO, Rimoin DL. Classification of osteogenesis imperfecta. Lancet 1978;1:1041-2.
    • (1978) Lancet , vol.1 , pp. 1041-1042
    • Sillence, D.O.1    Rimoin, D.L.2
  • 2
    • 0025538666 scopus 로고
    • Osteogenesis imperfecta, but which one?
    • Guibaud P. Osteogenesis imperfecta, but which one? Pediatrie 1990;45:839-43.
    • (1990) Pediatrie , vol.45 , pp. 839-843
    • Guibaud, P.1
  • 4
    • 0021181518 scopus 로고
    • Cysteine in the triple-helical domain of one allelic product of theαI (I) gene of type I collagen produces a lethal form of osteogenesis imperfecta
    • Steinmann B, Rao VH, Bruckner P, Gitzelmann R, Byers PH. Cysteine in the triple-helical domain of one allelic product of theαI (I) gene of type I collagen produces a lethal form of osteogenesis imperfecta. J Biol Chem 1984;259:11129-38.
    • (1984) J Biol Chem , vol.259 , pp. 11129-11138
    • Steinmann, B.1    Rao, V.H.2    Bruckner, P.3    Gitzelmann, R.4    Byers, P.H.5
  • 5
    • 0025360656 scopus 로고
    • Studies of type I collagen in osteogenesis imperfecta
    • Edwards MJ, Graham JMJ. Studies of type I collagen in osteogenesis imperfecta. J Pediatr 1990;117:67-72.
    • (1990) J Pediatr , vol.117 , pp. 67-72
    • Edwards, M.J.1    Graham, J.M.J.2
  • 6
    • 0019792866 scopus 로고
    • Disorders of the connective tissue metabolism as related to the skin
    • Byers PH, Barsh GS, Holbrook KA. Disorders of the connective tissue metabolism as related to the skin. Birth Defects Orig Artic Ser 1981;17:147-72.
    • (1981) Birth Defects Orig Artic Ser , vol.17 , pp. 147-172
    • Byers, P.H.1    Barsh, G.S.2    Holbrook, K.A.3
  • 7
    • 0028359009 scopus 로고
    • Bone mineral content and density in healthy subjects and in osteogenesis imperfecta
    • Davie MWJ, Haddaway MJ. Bone mineral content and density in healthy subjects and in osteogenesis imperfecta. Arch Dis Child 1994;70:331-4.
    • (1994) Arch Dis Child , vol.70 , pp. 331-334
    • Davie, M.W.J.1    Haddaway, M.J.2
  • 8
    • 0028299276 scopus 로고
    • Bone density in oseogenesis imperfecta may well be normal
    • Pateson CR, Mole PA. Bone density in oseogenesis imperfecta may well be normal. Postgrad Med J 1994;70:104-7.
    • (1994) Postgrad Med J , vol.70 , pp. 104-107
    • Pateson, C.R.1    Mole, P.A.2
  • 9
    • 0025777221 scopus 로고
    • Osteogenesis imperfecta: Translation of mutation to phenotype
    • Byers PH, Wallis GA, Willing MC. Osteogenesis imperfecta: translation of mutation to phenotype. J Med Genet 1991;28:433-42.
    • (1991) J Med Genet , vol.28 , pp. 433-442
    • Byers, P.H.1    Wallis, G.A.2    Willing, M.C.3
  • 10
  • 11
    • 0027745820 scopus 로고
    • Mutations in type 1 procollagen that cause osteogenesis imperfecta: Effects of the mutations on the assembly of collagen into fibrils, the basis of phenotypic variations, and potential antisense therapies
    • Prockop DJ, Colige A, Helminen H, Khillan JS, Pereira R, Vandenberg P. Mutations in type 1 procollagen that cause osteogenesis imperfecta: effects of the mutations on the assembly of collagen into fibrils, the basis of phenotypic variations, and potential antisense therapies. J Bone Miner Res 1993;8:489-92.
    • (1993) J Bone Miner Res , vol.8 , pp. 489-492
    • Prockop, D.J.1    Colige, A.2    Helminen, H.3    Khillan, J.S.4    Pereira, R.5    Vandenberg, P.6
  • 12
    • 0028058804 scopus 로고
    • Osteogenesis imperfecta: From phenotype to genotype and back again
    • Smith R. Osteogenesis imperfecta: from phenotype to genotype and back again. Int J Exp Pathol 1994;75:233-41.
    • (1994) Int J Exp Pathol , vol.75 , pp. 233-241
    • Smith, R.1
  • 13
    • 0027259211 scopus 로고
    • A RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the α1 chain of type I collagen: Application to four patients with osteogenesis imperfecta
    • Mackay K, Byers PH, Dalgleish R. A RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the α1 chain of type I collagen: application to four patients with osteogenesis imperfecta. Hum Mol Genet 1993;2:1155-60.
    • (1993) Hum Mol Genet , vol.2 , pp. 1155-1160
    • Mackay, K.1    Byers, P.H.2    Dalgleish, R.3
  • 14
    • 0028206192 scopus 로고
    • Molecular basis of osteogenesis imperfecta and related disorders of bone
    • Prockop DJ, Kuivaniemi H, Tromp G. Molecular basis of osteogenesis imperfecta and related disorders of bone. Clin Plast Surg 1994;21:407-13.
    • (1994) Clin Plast Surg , vol.21 , pp. 407-413
    • Prockop, D.J.1    Kuivaniemi, H.2    Tromp, G.3
  • 15
    • 0026744979 scopus 로고
    • Effect of long-term calcitonin therapy by injection and nasal spray on the incidence of fractures in osteogenesis imperfecta
    • Nishi Y, Hamamoto K, Kajiyama M, Ono H, Kihara M, Jinno K. Effect of long-term calcitonin therapy by injection and nasal spray on the incidence of fractures in osteogenesis imperfecta. J Pediatr 1992;121:477-80.
    • (1992) J Pediatr , vol.121 , pp. 477-480
    • Nishi, Y.1    Hamamoto, K.2    Kajiyama, M.3    Ono, H.4    Kihara, M.5    Jinno, K.6
  • 16
    • 0030788428 scopus 로고    scopus 로고
    • Long-term effects of bisphosphonates on the growing skeleton. Studies of young patients with severe osteoporosis
    • Brumsen C, Hamdy NA, Papapoulos SE. Long-term effects of bisphosphonates on the growing skeleton. Studies of young patients with severe osteoporosis. Medicine 1997;76:266-83.
    • (1997) Medicine , vol.76 , pp. 266-283
    • Brumsen, C.1    Hamdy, N.A.2    Papapoulos, S.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.