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Journal Abstract Search


130 related items for PubMed ID: 11467490

  • 1. New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis.
    Moko SB, Blandin de Chalain TM.
    J Craniomaxillofac Surg; 2001 Feb; 29(1):22-4. PubMed ID: 11467490
    [Abstract] [Full Text] [Related]

  • 2. New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis.
    Moko SB, de Chalain TM.
    J Maxillofac Surg; 2001 Feb; 29(1):22-24. PubMed ID: 11308275
    [Abstract] [Full Text] [Related]

  • 3. Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis.
    Moloney DM, Wall SA, Ashworth GJ, Oldridge M, Glass IA, Francomano CA, Muenke M, Wilkie AO.
    Lancet; 1997 Apr 12; 349(9058):1059-62. PubMed ID: 9107244
    [Abstract] [Full Text] [Related]

  • 4. Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome.
    Renier D, El-Ghouzzi V, Bonaventure J, Le Merrer M, Lajeunie E.
    J Neurosurg; 2000 Apr 12; 92(4):631-6. PubMed ID: 10761652
    [Abstract] [Full Text] [Related]

  • 5. Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
    Reardon W, Wilkes D, Rutland P, Pulleyn LJ, Malcolm S, Dean JC, Evans RD, Jones BM, Hayward R, Hall CM, Nevin NC, Baraister M, Winter RM.
    J Med Genet; 1997 Aug 12; 34(8):632-6. PubMed ID: 9279753
    [Abstract] [Full Text] [Related]

  • 6. Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.
    Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Glat PM, Cassileth LB, Mayro R, Zackai EH, Muenke M.
    J Pediatr; 1998 Apr 12; 132(4):714-6. PubMed ID: 9580776
    [Abstract] [Full Text] [Related]

  • 7. Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.
    Graham JM, Braddock SR, Mortier GR, Lachman R, Van Dop C, Jabs EW.
    Am J Med Genet; 1998 May 26; 77(4):322-9. PubMed ID: 9600744
    [Abstract] [Full Text] [Related]

  • 8. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic craniosynostosis.
    Tsai FJ, Wu JY, Lee CC, Tsa CH.
    Acta Paediatr; 2000 Jun 26; 89(6):672-4. PubMed ID: 10914960
    [Abstract] [Full Text] [Related]

  • 9. FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.
    Thomas GP, Wilkie AO, Richards PG, Wall SA.
    J Craniofac Surg; 2005 May 26; 16(3):347-52; discussion 353-4. PubMed ID: 15915095
    [Abstract] [Full Text] [Related]

  • 10. Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.
    Lowry RB, Jabs EW, Graham GE, Gerritsen J, Fleming J.
    Am J Med Genet; 2001 Nov 22; 104(2):112-9. PubMed ID: 11746040
    [Abstract] [Full Text] [Related]

  • 11. Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.
    Golla A, Lichmer P, von Gernet S, Winterpacht A, Fairley J, Murken J, Schuffenhauer S.
    J Med Genet; 1997 Aug 22; 34(8):683-4. PubMed ID: 9279764
    [Abstract] [Full Text] [Related]

  • 12. [Typical features of craniofacial growth of the FGFR3-associated coronal synostosis syndrome (so-called Muenke craniosynostosis)].
    Reinhart E, Eulert S, Bill J, Würzler K, Phan The L, Reuther J.
    Mund Kiefer Gesichtschir; 2003 May 22; 7(3):132-7. PubMed ID: 12764678
    [Abstract] [Full Text] [Related]

  • 13. Sequence analysis of fibroblast growth factor receptor 2 ( FGFR2 ) in Japanese patients with craniosynostosis.
    Sakai N, Tokunaga K, Yamazaki Y, Shida H, Sakata Y, Susami T, Nakakita N, Takato T, Uchinuma E.
    J Craniofac Surg; 2001 Nov 22; 12(6):580-5. PubMed ID: 11711827
    [Abstract] [Full Text] [Related]

  • 14. 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.
    Plast Reconstr Surg; 2001 Dec 22; 108(7):1849-54. PubMed ID: 11743367
    [Abstract] [Full Text] [Related]

  • 15. [A case of bilateral coronal craniosynostosis with the P250R mutation in FGFR3 gene].
    Mori F, Kuwajima K, Yamanaka K, Kondou I.
    No To Hattatsu; 2001 Jan 22; 33(1):53-7. PubMed ID: 11197897
    [Abstract] [Full Text] [Related]

  • 16. Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis.
    Schindler S, Friedrich M, Wagener H, Lorenz B, Preising MN.
    J Med Genet; 2002 Oct 22; 39(10):764-6. PubMed ID: 12362036
    [No Abstract] [Full Text] [Related]

  • 17. [On the effect of mutations of the fibroblast growth factor receptors as exemplified by three cases of craniosynostoses].
    Preising MN, Schindler S, Friedrich M, Wagener H, Golan I, Lorenz B.
    Klin Monbl Augenheilkd; 2003 Oct 22; 220(10):669-81. PubMed ID: 14577033
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