메뉴 건너뛰기




Volumn 25, Issue 6, 2010, Pages 1367-1374

Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta

Author keywords

Bone histomorphometry; Bone mineral density; Collagen type I; Osteogenesis imperfecta

Indexed keywords

BISPHOSPHONIC ACID DERIVATIVE; COLLAGEN TYPE 1; DNA; GLYCINE; ALPHA 2(I) COLLAGEN; COLLAGEN; COLLAGEN TYPE I, ALPHA 1 CHAIN;

EID: 77953529873     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.091109     Document Type: Article
Times cited : (106)

References (18)
  • 1
    • 1942501149 scopus 로고    scopus 로고
    • Osteogenesis imperfecta
    • Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet. 2004;363:1377-85.
    • (2004) Lancet , vol.363 , pp. 1377-1385
    • Rauch, F.1    Glorieux, F.H.2
  • 2
    • 0033819621 scopus 로고    scopus 로고
    • Collagens: Building blocks at the end of the development line
    • Byers PH. Collagens: building blocks at the end of the development line. Clin Genet. 2000;58:270-9.
    • (2000) Clin Genet , vol.58 , pp. 270-279
    • Byers, P.H.1
  • 3
    • 0036142862 scopus 로고    scopus 로고
    • Killing the messenger: New insights into nonsensemediated mRNA decay
    • Byers PH. Killing the messenger: new insights into nonsensemediated mRNA decay. J Clin Invest. 2002;109:3-6.
    • (2002) J Clin Invest , vol.109 , pp. 3-6
    • Byers, P.H.1
  • 4
    • 0030789557 scopus 로고    scopus 로고
    • The human type I collagen mutation database
    • DOI 10.1093/nar/25.1.181
    • Dalgleish R. The human type I collagen mutation database. Nucleic Acids Res. 1997;25:181-7. (Pubitemid 27307006)
    • (1997) Nucleic Acids Research , vol.25 , Issue.1 , pp. 181-187
    • Dalgleish, R.1
  • 5
    • 0031831307 scopus 로고    scopus 로고
    • The human collagen mutation database 1998
    • Dalgleish R. The human collagen mutation database 1998. Nucleic Acids Res. 1998;26:253-5.
    • (1998) Nucleic Acids Res , vol.26 , pp. 253-255
    • Dalgleish, R.1
  • 7
    • 0034022769 scopus 로고    scopus 로고
    • Static and dynamic bone histomorphometry in children with osteogenesis imperfecta
    • DOI 10.1016/S8756-3282(00)00269-6, PII S8756328200002696
    • Rauch F, Travers R, Parfitt AM, Glorieux FH. Static and dynamic bone histomorphometry in children with osteogenesis imperfecta. Bone. 2000;26:581-589. (Pubitemid 30301650)
    • (2000) Bone , vol.26 , Issue.6 , pp. 581-589
    • Rauch, F.1    Travers, R.2    Parfitt, A.M.3    Glorieux, F.H.4
  • 9
    • 0031941142 scopus 로고    scopus 로고
    • Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: Identification of common sequences of null-allele mutations
    • DOI 10.1086/301689
    • Korkko J, Ala-Kokko L, De Paepe A, Nuytinck L, Earley J, Prockop DJ. Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. Am J Hum Genet. 1998;62:98-110. (Pubitemid 28093839)
    • (1998) American Journal of Human Genetics , vol.62 , Issue.1 , pp. 98-110
    • Korkko, J.1    Ala-Kokko, L.2    De Paepe, A.3    Nuytinck, L.4    Earley, J.5    Prockop, D.J.6
  • 11
    • 0025317879 scopus 로고
    • Measurement of bone mineral content of the lumbar spine by dual energy X-ray absorptiometry in normal children: Correlations with growth parameters
    • Glastre C, Braillon P, David L, Cochat P, Meunier PJ, Delmas PD. Measurement of bone mineral content of the lumbar spine by dual energy x-ray absorptiometry in normal children: correlations with growth parameters. J Clin Endocrinol Metab. 1990;70:1330-3. (Pubitemid 20159068)
    • (1990) Journal of Clinical Endocrinology and Metabolism , vol.70 , Issue.5 , pp. 1330-1333
    • Glastre, C.1    Braillon, P.2    David, L.3    Cochat, P.4    Meunier, P.J.5    Delmas, P.D.6
  • 12
    • 0025865655 scopus 로고
    • Bone mass in healthy children: Measurement with quantitative DXA
    • Southard RN, Morris JD, Mahan JD, et al. Bone mass in healthy children: measurement with quantitative DXA. Radiology. 1991;179:735-8.
    • (1991) Radiology , vol.179 , pp. 735-738
    • Southard, R.N.1    Morris, J.D.2    Mahan, J.D.3
  • 13
    • 0033970963 scopus 로고    scopus 로고
    • Normative data for iliac bone histomorphometry in growing children
    • DOI 10.1016/S8756-3282(99)00257-4, PII S8756328299002574
    • Glorieux FH, Travers R, Taylor A, et al. Normative data for iliac bone histomorphometry in growing children. Bone. 2000;26:103-9. (Pubitemid 30029201)
    • (2000) Bone , vol.26 , Issue.2 , pp. 103-109
    • Glorieux, F.H.1    Travers, R.2    Taylor, A.3    Bowen, J.R.4    Rauch, F.5    Norman, M.6    Parfitt, A.M.7
  • 14
    • 0023488581 scopus 로고
    • Bone histomorphometry: Standardization of nomenclature, symbols, and units
    • Report of the ASBMR Histomorphometry Nomenclature Committee
    • Parfitt AM, Drezner MK, Glorieux FH, et al. Bone histomorphometry: standardization of nomenclature, symbols, and units. Report of the ASBMR Histomorphometry Nomenclature Committee. J Bone Miner Res. 1987;2:595-610.
    • (1987) J Bone Miner Res , vol.2 , pp. 595-610
    • Parfitt, A.M.1    Drezner, M.K.2    Glorieux, F.H.3
  • 15
    • 43049121656 scopus 로고    scopus 로고
    • Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations
    • Roschger P, Fratzl-Zelman N, Misof BM, Glorieux FH, Klaushofer K, Rauch F. Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations. Calcif Tissue Int. 2008;82:263-70.
    • (2008) Calcif Tissue Int , vol.82 , pp. 263-270
    • Roschger, P.1    Fratzl-Zelman, N.2    Misof, B.M.3    Glorieux, F.H.4    Klaushofer, K.5    Rauch, F.6
  • 16
    • 18244387017 scopus 로고    scopus 로고
    • Centers for Disease Control and Prevention 2000 growth charts for the United States: Improvements to the 1977 National Center for Health Statistics version
    • Ogden CL, Kuczmarski RJ, Flegal KM, et al. Centers for Disease Control and Prevention 2000 growth charts for the United States: improvements to the 1977 National Center for Health Statistics version. Pediatrics. 2002;109:45-60.
    • (2002) Pediatrics , vol.109 , pp. 45-60
    • Ogden, C.L.1    Kuczmarski, R.J.2    Flegal, K.M.3
  • 17
    • 0018416379 scopus 로고
    • Genetic heterogeneity in osteogenesis imperfecta
    • Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16:101-16.
    • (1979) J Med Genet , vol.16 , pp. 101-116
    • Sillence, D.O.1    Senn, A.2    Danks, D.M.3
  • 18
    • 26944470765 scopus 로고    scopus 로고
    • High and low density in the same bone: A study on children and adolescents with mild osteogenesis imperfecta
    • DOI 10.1016/j.bone.2005.06.007, PII S8756328205002619
    • Rauch F, Land C, Cornibert S, Schoenau E, Glorieux FH. High and low density in the same bone: a study on children and adolescents with mild osteogenesis imperfecta. Bone. 2005;37:634-41. (Pubitemid 41476385)
    • (2005) Bone , vol.37 , Issue.5 , pp. 634-641
    • Rauch, F.1    Land, C.2    Cornibert, S.3    Schoenau, E.4    Glorieux, F.H.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.