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Volumn 20, Issue 5, 2004, Pages 297-301

Muenke syndrome

Author keywords

Coronal synostosis; Craniosynostosis; FGFR3 gene; Genetic analysis; Muenke syndrome; Skeletal abnormalities

Indexed keywords

ARGININE; FIBROBLAST GROWTH FACTOR 3; PROLINE;

EID: 2942752503     PISSN: 02567040     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00381-003-0906-y     Document Type: Article
Times cited : (26)

References (20)
  • 1
    • 0029798614 scopus 로고    scopus 로고
    • Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
    • Bellus GA, Gaudenz K, Zackai EH, Clarke LA, Szabo J, Francomano CA, Muenke M (1996) Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet 14:174-176
    • (1996) Nat. Genet. , vol.14 , pp. 174-176
    • Bellus, G.A.1    Gaudenz, K.2    Zackai, E.H.3    Clarke, L.A.4    Szabo, J.5    Francomano, C.A.6    Muenke, M.7
  • 2
    • 0035657960 scopus 로고    scopus 로고
    • Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: A preliminary report
    • Cassileth LB, Bartlett SP, Glat PM, Gripp KW, Muenke M, Zackai EH, Whitaker LA (2001) Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: a preliminary report. Plast Reconstr Surg 108:1849-1854
    • (2001) Plast. Reconstr. Surg. , vol.108 , pp. 1849-1854
    • Cassileth, L.B.1    Bartlett, S.P.2    Glat, P.M.3    Gripp, K.W.4    Muenke, M.5    Zackai, E.H.6    Whitaker, L.A.7
  • 3
    • 0030837389 scopus 로고    scopus 로고
    • Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family
    • Golla A, Lichtner P, von Gernet S, Winterpacht A, Fairley J, Murken J, Schuffenhauer S (1997) Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family. J Med Genet 34:683-684
    • (1997) J. Med. Genet. , vol.34 , pp. 683-684
    • Golla, A.1    Lichtner, P.2    von Gernet, S.3    Winterpacht, A.4    Fairley, J.5    Murken, J.6    Schuffenhauer, S.7
  • 4
    • 0032557724 scopus 로고    scopus 로고
    • Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene
    • Graham JM Jr, Braddock SR, Mortier GR, Lachman R, Van Dop C, Jabs EW (1998) Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. Am J Med Genet 77:322-329
    • (1998) Am. J. Med. Genet. , vol.77 , pp. 322-329
    • Graham Jr., J.M.1    Braddock, S.R.2    Mortier, G.R.3    Lachman, R.4    Van Dop, C.5    Jabs, E.W.6
  • 7
    • 0032737329 scopus 로고    scopus 로고
    • Craniosynostosis syndromes: From genes to premature fusion of skull bones
    • Hehr U, Muenke M (1999) Craniosynostosis syndromes: from genes to premature fusion of skull bones. Mol Genet Metab 68:139-151
    • (1999) Mol. Genet. Metab. , vol.68 , pp. 139-151
    • Hehr, U.1    Muenke, M.2
  • 9
    • 0032961402 scopus 로고    scopus 로고
    • Sex related expressivity of the phenotype in coronal craniosynost osis caused by the recurrent P250R FGFR3 mutation
    • Lajeunie E, El Ghouzzi V, Le Merrer M, Munnich A, Bonaventure J, Renier D (1999) Sex related expressivity of the phenotype in coronal craniosynost osis caused by the recurrent P250R FGFR3 mutation. J Med Genet 36:9-13
    • (1999) J. Med. Genet. , vol.36 , pp. 9-13
    • Lajeunie, E.1    El Ghouzzi, V.2    Le Merrer, M.3    Munnich, A.4    Bonaventure, J.5    Renier, D.6
  • 18
    • 0038182228 scopus 로고    scopus 로고
    • The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation
    • Trusen A, Beissert M, Collmann H, Darge K (2003) The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation. Pediatr Radiol 33:168-172
    • (2003) Pediatr. Radiol. , vol.33 , pp. 168-172
    • Trusen, A.1    Beissert, M.2    Collmann, H.3    Darge, K.4
  • 19
    • 0033885194 scopus 로고    scopus 로고
    • A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic cranoisynostosis
    • Tsai FJ, Wu JY, Lee CC, Tsa CH (2000) A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic cranoisynostosis. Acta Paediatr 89:672-674
    • (2000) Acta Paediatr. , vol.89 , pp. 672-674
    • Tsai, F.J.1    Wu, J.Y.2    Lee, C.C.3    Tsa, C.H.4
  • 20
    • 0034464005 scopus 로고    scopus 로고
    • The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: The achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans
    • Vajo Z, Francomano CA, Wilkin DJ (2000) The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev 21:23-39
    • (2000) Endocr. Rev. , vol.21 , pp. 23-39
    • Vajo, Z.1    Francomano, C.A.2    Wilkin, D.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.