메뉴 건너뛰기




Volumn 80, Issue 6, 1999, Pages 524-528

Anthropometry of patients with osteogenesis imperfecta

Author keywords

Anthropometry; Body constitution; Collagen; Osteogenesis imperfecta

Indexed keywords

GROWTH HORMONE; SOMATOMEDIN C;

EID: 0032990522     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.80.6.524     Document Type: Article
Times cited : (53)

References (24)
  • 1
    • 0018416379 scopus 로고
    • Genetic heterogeneity in osteogenesis imperfecta
    • 1 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
  • 2
    • 0027509286 scopus 로고
    • Linkage analysis in dominantly inherited osteogenesis imperfecta
    • 2 Sykes B. Linkage analysis in dominantly inherited osteogenesis imperfecta. Am J Med Genet 1993;45:212-16.
    • (1993) Am J Med Genet , vol.45 , pp. 212-216
    • Sykes, B.1
  • 3
    • 0026663287 scopus 로고
    • Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen
    • 3 Willing MC, Pruchno CJ, Atkinson M, Byers PH, Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen. Am J Hum Genet 1992;51:508-15.
    • (1992) Am J Hum Genet , vol.51 , pp. 508-515
    • Willing, M.C.1    Pruchno, C.J.2    Atkinson, M.3    Byers, P.H.4
  • 4
    • 0028050102 scopus 로고
    • Osteogenesis imperfecta type I: Molecular heterogeneity for COL1A1 null alleles of type I collagen
    • 4 Willing MC, Deschenes SP, Scott DA, et al. Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. Am J Hum Genet 1994;55:638-47.
    • (1994) Am J Hum Genet , vol.55 , pp. 638-647
    • Willing, M.C.1    Deschenes, S.P.2    Scott, D.A.3
  • 5
    • 0021181518 scopus 로고
    • Cysteine in the triple-helical domain of one allelic product of the α1(1) gene of type I collagen produces a lethal form of osteogenesis imperfecta
    • 5 Steinmann B, Rao VH, Vogel A, Bruckner P, Gitzelmann R, Byers PH. Cysteine in the triple-helical domain of one allelic product of the α1(1) 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    Vogel, A.3    Bruckner, P.4    Gitzelmann, R.5    Byers, P.H.6
  • 6
    • 0030059552 scopus 로고    scopus 로고
    • Deletion of a Gly-Pro-Pro repeat in the proα2(I) chain of procollagen 1 in a family with dominant osteogenesis imperfecta type IV
    • 6 Lund AM, Skovby F, Schwartz M. Deletion of a Gly-Pro-Pro repeat in the proα2(I) chain of procollagen 1 in a family with dominant osteogenesis imperfecta type IV. Hum Genet 1996;97:287-90.
    • (1996) Hum Genet , vol.97 , pp. 287-290
    • Lund, A.M.1    Skovby, F.2    Schwartz, M.3
  • 7
    • 0029665663 scopus 로고    scopus 로고
    • Gly802Asp substitution in the proα2(1) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism
    • 7 Lund AM, Schwartz M, Raghunath M, Steinmann B, Skovby F. Gly802Asp substitution in the proα2(1) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism. Eur J Hum Genet 1996;4:39-45.
    • (1996) Eur J Hum Genet , vol.4 , pp. 39-45
    • Lund, A.M.1    Schwartz, M.2    Raghunath, M.3    Steinmann, B.4    Skovby, F.5
  • 8
    • 0030965881 scopus 로고    scopus 로고
    • Serine for glycine substitutions in the C-terminal third of the α1(I) chain of collagen I in five patients with non-lethal osteogenesis imperfecta
    • 8 Lund AM, Skovby F, Schwartz M. Serine for glycine substitutions in the C-terminal third of the α1(I) chain of collagen I in five patients with non-lethal osteogenesis imperfecta. Hum Mutat 1997;9:378-82.
    • (1997) Hum Mutat , vol.9 , pp. 378-382
    • Lund, A.M.1    Skovby, F.2    Schwartz, M.3
  • 12
    • 0017261757 scopus 로고
    • Clinical longitudinal standards for height, weight, height velocity, weight velocity and stages of puberty
    • 12 Tanner JM, Whitehouse RH. Clinical longitudinal standards for height, weight, height velocity, weight velocity and stages of puberty. Arch Dis Child 1976;51:170-9.
    • (1976) Arch Dis Child , vol.51 , pp. 170-179
    • Tanner, J.M.1    Whitehouse, R.H.2
  • 13
    • 0024689265 scopus 로고
    • Physical growth of Swiss children from birth to 20 years of age
    • 13 Prader A, Largo RH, Molinari L, Issler C. Physical growth of Swiss children from birth to 20 years of age. Helv Paediatr Acta 1989;52(suppl):1-125.
    • (1989) Helv Paediatr Acta , vol.52 , Issue.SUPPL. , pp. 1-125
    • Prader, A.1    Largo, R.H.2    Molinari, L.3    Issler, C.4
  • 14
    • 0028293598 scopus 로고
    • Serum insulin-like growth factor-I in 1030 healthy children, adolescents and adults: Relation to age, sex, stage of puberty, testicular size, and body mass index
    • 14 Juul A, Bang P, Hertel NT, et al. Serum insulin-like growth factor-I in 1030 healthy children, adolescents and adults: relation to age, sex, stage of puberty, testicular size, and body mass index. J Clin Endocrinol Metab 1994;78:744-52.
    • (1994) J Clin Endocrinol Metab , vol.78 , pp. 744-752
    • Juul, A.1    Bang, P.2    Hertel, N.T.3
  • 15
    • 0029121073 scopus 로고
    • Serum levels of insulin-like growth factor (IGF)-binding protein-3 (IGFBP-3) in healthy infants, children, and adolescents: The relation to IGF-I, IGF-II, IGFBP-1, IGFBP-2, age, sex, body mass index, and pubertal maturation
    • 15 Juul A, Dalgaard P, Blum WF, et al. Serum levels of insulin-like growth factor (IGF)-binding protein-3 (IGFBP-3) in healthy infants, children, and adolescents: the relation to IGF-I, IGF-II, IGFBP-1, IGFBP-2, age, sex, body mass index, and pubertal maturation. J Clin Endocrinol Metab 1995;80:2534-42.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 2534-2542
    • Juul, A.1    Dalgaard, P.2    Blum, W.F.3
  • 16
    • 0030475863 scopus 로고    scopus 로고
    • Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1
    • 16 Lund AM, Schwartz M, Skovby F. Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1. Clin Genet 1996;50:304-9.
    • (1996) Clin Genet , vol.50 , pp. 304-309
    • Lund, A.M.1    Schwartz, M.2    Skovby, F.3
  • 17
    • 0030742706 scopus 로고    scopus 로고
    • Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent findings in families with osteogenesis imperfecta type III/IV
    • 17 Lund AM, Nicholls AC, Schwartz M, Skovby F. Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent findings in families with osteogenesis imperfecta type III/IV. Acta Paediatr 1997;86:711-18.
    • (1997) Acta Paediatr , vol.86 , pp. 711-718
    • Lund, A.M.1    Nicholls, A.C.2    Schwartz, M.3    Skovby, F.4
  • 19
    • 0027399808 scopus 로고    scopus 로고
    • The growth hormone and somatomedin axis in short children with osteogenesis imperfecta
    • 993
    • 19 Marini JC, Bordenick S, Heavner G, et al. The growth hormone and somatomedin axis in short children with osteogenesis imperfecta. J Clin Endocrinol Metab 993;76: 251-6.
    • J Clin Endocrinol Metab , vol.76 , pp. 251-256
    • Marini, J.C.1    Bordenick, S.2    Heavner, G.3
  • 20
    • 0029784249 scopus 로고    scopus 로고
    • The role of type I collagen in the regulation of the osteoblast phenotype
    • 20 Shi ST, Kirk M, Kahn AJ. The role of type I collagen in the regulation of the osteoblast phenotype. J Bone Miner Res 1996;11:1139-45.
    • (1996) J Bone Miner Res , vol.11 , pp. 1139-1145
    • Shi, S.T.1    Kirk, M.2    Kahn, A.J.3
  • 21
    • 0030378373 scopus 로고    scopus 로고
    • Growth hormone treatment in osteogenesis imperfecta with quantitative defect of type I collagen synthesis
    • 21 Antoniazzi F, Bertoldo F, Mottes M, et al. Growth hormone treatment in osteogenesis imperfecta with quantitative defect of type I collagen synthesis. J Pediatr 1996;129:432-9.
    • (1996) J Pediatr , vol.129 , pp. 432-439
    • Antoniazzi, F.1    Bertoldo, F.2    Mottes, M.3
  • 22
    • 0029794061 scopus 로고    scopus 로고
    • Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains
    • 22 Willing MC, Deschenes SP, Slayton R, Roberts EJ. Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. Am J Hum Genet 1996;59:799-809.
    • (1996) Am J Hum Genet , vol.59 , pp. 799-809
    • Willing, M.C.1    Deschenes, S.P.2    Slayton, R.3    Roberts, E.J.4
  • 23
    • 0023489328 scopus 로고
    • A practical radiologic approach to skeletal dysplasias in infancy
    • 33 Dutton RV. A practical radiologic approach to skeletal dysplasias in infancy. Radiol Clin North Am 1987;25:1211-33.
    • (1987) Radiol Clin North Am , vol.25 , pp. 1211-1233
    • Dutton, R.V.1
  • 24
    • 0027771906 scopus 로고
    • Communicating hydrocephalus, basilar invagination, and other neurologic features in osteogenesis imperfecta
    • 24 Charnas LR, Marini JC. Communicating hydrocephalus, basilar invagination, and other neurologic features in osteogenesis imperfecta. Neurology 1993;43:2603-8
    • (1993) Neurology , vol.43 , pp. 2603-2608
    • Charnas, L.R.1    Marini, J.C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.