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Volumn 3, Issue 3-4, 2005, Pages 201-204

The genetics of fibrodysplasia ossificans progressiva

Author keywords

Autosomal dominant; Fibrodysplasia ossificans progressiva (FOP); Genetics; Heterotopic ossification; Inheritance; Mutation

Indexed keywords

ARTICLE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENOME; HUMAN; INFORMATION SYSTEM; INHERITANCE; MOLECULAR CLONING; MOLECULAR GENETICS; OSSIFYING MYOSITIS; RISK;

EID: 25844453495     PISSN: 15348644     EISSN: None     Source Type: Journal    
DOI: 10.1385/BMM:3:3-4:201     Document Type: Article
Times cited : (92)

References (21)
  • 1
    • 0020082586 scopus 로고
    • Genetic aspects of fibrodysplasia ossificans progressiva
    • Connor JM, Evans DAP. 1982 Genetic aspects of fibrodysplasia ossificans progressiva. J Med Genet 19:35-39.
    • (1982) J Med Genet , vol.19 , pp. 35-39
    • Connor, J.M.1    Evans, D.A.P.2
  • 2
    • 0031963608 scopus 로고    scopus 로고
    • The genetics of fibrodysplasia ossificans progressiva
    • Delatycki M, Rogers JG. 1998 The genetics of fibrodysplasia ossificans progressiva. Clin Orthop 346:15-18.
    • (1998) Clin Orthop , vol.346 , pp. 15-18
    • Delatycki, M.1    Rogers, J.G.2
  • 3
    • 0027165006 scopus 로고
    • A three generation family with fibrodysplasia ossificans progressiva
    • Connor JM, Skirton H, Lunt PW. 1993 A three generation family with fibrodysplasia ossificans progressiva. J Med Genet 30:687-689.
    • (1993) J Med Genet , vol.30 , pp. 687-689
    • Connor, J.M.1    Skirton, H.2    Lunt, P.W.3
  • 5
    • 0033909663 scopus 로고    scopus 로고
    • Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31
    • Feldman G, Li M, Martin S, et al. 2000 Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31. Am J Hum Genet 66:128-135.
    • (2000) Am J Hum Genet , vol.66 , pp. 128-135
    • Feldman, G.1    Li, M.2    Martin, S.3
  • 7
    • 20844450082 scopus 로고    scopus 로고
    • Fibrodysplasia ossificans progressiva (FOP), a disorder of ectopic osteogenesis, misregulates cell surface expression and trafficking of BMPRIA
    • Serrano de la Peña L, Billings PC, Fiori JL, Ahn J, Kaplan FS, Shore EM. 2005 Fibrodysplasia ossificans progressiva (FOP), a disorder of ectopic osteogenesis, misregulates cell surface expression and trafficking of BMPRIA. J Bone Miner Res 20:1168-1176.
    • (2005) J Bone Miner Res , vol.20 , pp. 1168-1176
    • Serrano De La Peña, L.1    Billings, P.C.2    Fiori, J.L.3    Ahn, J.4    Kaplan, F.S.5    Shore, E.M.6
  • 8
    • 0030022304 scopus 로고    scopus 로고
    • Fibrodysplasia ossificans progressiva in two half sisters: Evidence for maternal mosaicism
    • Janoff HB, Muenke M, Johnson LO, et al. 1996 Fibrodysplasia ossificans progressiva in two half sisters: Evidence for maternal mosaicism. Am J Med Genet 61:320-324.
    • (1996) Am J Med Genet , vol.61 , pp. 320-324
    • Janoff, H.B.1    Muenke, M.2    Johnson, L.O.3
  • 9
    • 0027996867 scopus 로고
    • The importance of genetic mosaicism in human disease
    • Bernards A, Gusella JF. 1994 The importance of genetic mosaicism in human disease. N Engl J Med 331:1447-1449.
    • (1994) N Engl J Med , vol.331 , pp. 1447-1449
    • Bernards, A.1    Gusella, J.F.2
  • 12
    • 34250019537 scopus 로고
    • Bone formation by autoinduction
    • Urist MR. 1965 Bone formation by autoinduction. Science 150:893-899.
    • (1965) Science , vol.150 , pp. 893-899
    • Urist, M.R.1
  • 13
    • 0024256133 scopus 로고
    • Novel regulators of bone formation: Molecular clones and activities
    • Wozney JM, Rosen V, Celeste AJ, et al. 1988 Novel regulators of bone formation: molecular clones and activities. Science 242:1528-1534.
    • (1988) Science , vol.242 , pp. 1528-1534
    • Wozney, J.M.1    Rosen, V.2    Celeste, A.J.3
  • 14
    • 0025307333 scopus 로고
    • Fibrodysplasia ossificans progressiva: A clue from the fly?
    • Kaplan FS, Tabas JA, Zasloff MA. 1990 Fibrodysplasia ossificans progressiva: a clue from the fly? Calcif Tissue Int 47:117-125.
    • (1990) Calcif Tissue Int , vol.47 , pp. 117-125
    • Kaplan, F.S.1    Tabas, J.A.2    Zasloff, M.A.3
  • 15
    • 0029746491 scopus 로고    scopus 로고
    • Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva
    • Shafritz AB, Shore EM, Gannon FH, et al. 1996 Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva. N Engl J Med 335:555-561.
    • (1996) N Engl J Med , vol.335 , pp. 555-561
    • Shafritz, A.B.1    Shore, E.M.2    Gannon, F.H.3
  • 17
    • 0038035670 scopus 로고    scopus 로고
    • Paresis of a bone morphogenetic protein antagonist response in a genetic disorder of heterotopic skeletogenesis
    • Ahn J, Serrano de la Peña L, Shore EM, Kaplan FS. 2003 Paresis of a bone morphogenetic protein antagonist response in a genetic disorder of heterotopic skeletogenesis. J Bone Joint Surg (Am) 85-A:667-674.
    • (2003) J Bone Joint Surg (Am) , vol.85 A , pp. 667-674
    • Ahn, J.1    Serrano De La Peña, L.2    Shore, E.M.3    Kaplan, F.S.4
  • 18
    • 0033814195 scopus 로고    scopus 로고
    • Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva
    • Xu M, Feldman G, Le Merrer M, et al. 2000 Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva. Clin Genet 58:291-298.
    • (2000) Clin Genet , vol.58 , pp. 291-298
    • Xu, M.1    Feldman, G.2    Le Merrer, M.3
  • 19
    • 0033428271 scopus 로고    scopus 로고
    • A de novo heterozygous deletion of 42 base-pairs in the noggin gene of a fibrodysplasia ossificans progressiva patient
    • Lucotte G, Semonin O, Lutz P. 1999 A de novo heterozygous deletion of 42 base-pairs in the noggin gene of a fibrodysplasia ossificans progressiva patient. Clin Genet 56:469-470.
    • (1999) Clin Genet , vol.56 , pp. 469-470
    • Lucotte, G.1    Semonin, O.2    Lutz, P.3
  • 20
    • 0035451914 scopus 로고    scopus 로고
    • Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva
    • Semonin O, Fontaine K, Daviaud C, Ayuso C, Lucotte G. 2001 Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva. Am J Med Genet 102:314-317.
    • (2001) Am J Med Genet , vol.102 , pp. 314-317
    • Semonin, O.1    Fontaine, K.2    Daviaud, C.3    Ayuso, C.4    Lucotte, G.5
  • 21


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.