메뉴 건너뛰기




Volumn 26, Issue 2, 2011, Pages 405-413

Cranial base abnormalities in osteogenesis imperfecta: Phenotypic and genotypic determinants

Author keywords

BASILAR IMPRESSION; BASILAR INVAGINATION; COLLAGEN TYPE I; OSTEOGENESIS IMPERFECTA; PLATYBASIA

Indexed keywords

BISPHOSPHONIC ACID DERIVATIVE; COLLAGEN TYPE 1;

EID: 79251491709     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1002/jbmr.220     Document Type: Article
Times cited : (57)

References (16)
  • 1
    • 1942501149 scopus 로고    scopus 로고
    • Osteogenesis imperfecta
    • Rauch F, Glorieux FH., Osteogenesis imperfecta. Lancet. 2004; 363: 1377-1385.
    • (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: 270-279.
    • (2000) Clin Genet , vol.58 , pp. 270-279
    • Byers, P.H.1
  • 3
    • 33847227672 scopus 로고    scopus 로고
    • Consortium for osteogenesis imperfecta mutations in the helical domain of type i collagen: Regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
    • Marini JC, Forlino A, Cabral WA, et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat. 2007; 28: 209-221.
    • (2007) Hum Mutat , vol.28 , pp. 209-221
    • Marini, J.C.1    Forlino, A.2    Cabral, W.A.3
  • 4
    • 37349094366 scopus 로고    scopus 로고
    • Basilar impression and osteogenesis imperfecta: A 21-year retrospective review of outcomes in 20 patients
    • Ibrahim AG, Crockard HA., Basilar impression and osteogenesis imperfecta: a 21-year retrospective review of outcomes in 20 patients. J Neurosurg Spine. 2007; 7: 594-600.
    • (2007) J Neurosurg Spine , vol.7 , pp. 594-600
    • Ibrahim, A.G.1    Crockard, H.A.2
  • 5
    • 51749115116 scopus 로고    scopus 로고
    • Specific entities affecting the craniocervical region: Osteogenesis imperfecta and related osteochondrodysplasiasâmedical and surgical management of basilar impression
    • Menezes AH., Specific entities affecting the craniocervical region: osteogenesis imperfecta and related osteochondrodysplasiasâmedical and surgical management of basilar impression. Childs Nerv Syst. 2008; 24: 1169-1172.
    • (2008) Childs Nerv Syst , vol.24 , pp. 1169-1172
    • Menezes, A.H.1
  • 6
    • 33748511871 scopus 로고    scopus 로고
    • Skull base abnormalities in osteogenesis imperfecta: A cephalometric evaluation of 54 patients and 108 control volunteers
    • Kovero O, Pynnonen S, Kuurila-Svahn K, Kaitila I, Waltimo-Siren J., Skull base abnormalities in osteogenesis imperfecta: a cephalometric evaluation of 54 patients and 108 control volunteers. J Neurosurg. 2006; 105: 361-370.
    • (2006) J Neurosurg , vol.105 , pp. 361-370
    • Kovero, O.1    Pynnonen, S.2    Kuurila-Svahn, K.3    Kaitila, I.4    Waltimo-Siren, J.5
  • 8
    • 0030866372 scopus 로고    scopus 로고
    • Osteogenesis imperfecta: Clinical, cephalometric, and biochemical investigations of OI types I, III, and IV
    • Jensen BL, Lund AM., Osteogenesis imperfecta: clinical, cephalometric, and biochemical investigations of OI types I, III, and IV. J Craniofac Genet Dev Biol. 1997; 17: 121-132.
    • (1997) J Craniofac Genet Dev Biol , vol.17 , pp. 121-132
    • Jensen, B.L.1    Lund, A.M.2
  • 9
    • 77954425984 scopus 로고    scopus 로고
    • Dimensions of the craniocervical junction in longitudinal analysis of normal growth
    • Arponen H, Evalahti M, Waltimo-Siren J., Dimensions of the craniocervical junction in longitudinal analysis of normal growth. Childs Nerv Syst. 2010; 26: 763-769.
    • (2010) Childs Nerv Syst , vol.26 , pp. 763-769
    • Arponen, H.1    Evalahti, M.2    Waltimo-Siren, J.3
  • 10
    • 0027069482 scopus 로고
    • Lumbar bone mineral content measured by dual energy X-ray absorptiometry in newborns and infants
    • Salle BL, Braillon P, Glorieux FH, Brunet J, Cavero E, Meunier PJ., Lumbar bone mineral content measured by dual energy X-ray absorptiometry in newborns and infants. Acta Paediatr. 1992; 81: 953-958.
    • (1992) Acta Paediatr , vol.81 , pp. 953-958
    • Salle, B.L.1    Braillon, P.2    Glorieux, F.H.3    Brunet, J.4    Cavero, E.5    Meunier, P.J.6
  • 11
    • 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
    • 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.
    • (1998) Am J Hum Genet , vol.62 , pp. 98-110
    • Korkko, J.1    Ala-Kokko, L.2    De Paepe, A.3    Nuytinck, L.4    Earley, J.5    Prockop, D.J.6
  • 12
    • 0001911591 scopus 로고    scopus 로고
    • Disorders of collagen biosynthesis and structure
    • Scriver C., ed. New York: McGraw-Hill.
    • Byers P., Disorders of collagen biosynthesis and structure. In:, Scriver C, ed. The metabolic and molecular bases of inherited diseases. New York: McGraw-Hill; 2002.
    • (2002) The Metabolic and Molecular Bases of Inherited Diseases
    • Byers, P.1
  • 13
    • 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
  • 15
    • 0028006883 scopus 로고
    • Craniocervical abnormalities in osteogenesis imperfecta: Genetic and molecular correlation
    • Sillence DO., Craniocervical abnormalities in osteogenesis imperfecta: genetic and molecular correlation. Pediatr Radiol. 1994; 24: 427-430.
    • (1994) Pediatr Radiol , vol.24 , pp. 427-430
    • Sillence, D.O.1
  • 16
    • 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: 263-270.
    • (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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.