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Journal Abstract Search

291 related items for PubMed ID: 9600744

  • 1. 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]

  • 2. 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]

  • 3. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
    Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken HW, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Adès LC, Haan EA, Mulley JC, Cohen MM, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AO.
    Am J Hum Genet; 1997 Mar 22; 60(3):555-64. PubMed ID: 9042914
    [Abstract] [Full Text] [Related]

  • 4. [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]

  • 5. Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.
    Gripp KW, Stolle CA, McDonald-McGinn DM, Markowitz RI, Bartlett SP, Katowitz JA, Muenke M, Zackai EH.
    Am J Med Genet; 1998 Jul 24; 78(4):356-60. PubMed ID: 9714439
    [Abstract] [Full Text] [Related]

  • 6. Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism.
    Agochukwu NB, Solomon BD, Benson LJ, Muenke M.
    Am J Med Genet A; 2013 Mar 24; 161A(3):453-60. PubMed ID: 23378035
    [Abstract] [Full Text] [Related]

  • 7. 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 24; 34(8):632-6. PubMed ID: 9279753
    [Abstract] [Full Text] [Related]

  • 8. [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 24; 33(1):53-7. PubMed ID: 11197897
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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 12; 16(3):347-52; discussion 353-4. PubMed ID: 15915095
    [Abstract] [Full Text] [Related]

  • 11. Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.
    Lajeunie E, El Ghouzzi V, Le Merrer M, Munnich A, Bonaventure J, Renier D.
    J Med Genet; 1999 Jan 12; 36(1):9-13. PubMed ID: 9950359
    [Abstract] [Full Text] [Related]

  • 12. 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 12; 29(1):22-4. PubMed ID: 11467490
    [Abstract] [Full Text] [Related]

  • 13. Genetic analysis of patients with the Saethre-Chotzen phenotype.
    Chun K, Teebi AS, Jung JH, Kennedy S, Laframboise R, Meschino WS, Nakabayashi K, Scherer SW, Ray PN, Teshima I.
    Am J Med Genet; 2002 Jun 15; 110(2):136-43. PubMed ID: 12116251
    [Abstract] [Full Text] [Related]

  • 14. Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.
    Schell U, Hehr A, Feldman GJ, Robin NH, Zackai EH, de Die-Smulders C, Viskochil DH, Stewart JM, Wolff G, Ohashi H.
    Hum Mol Genet; 1995 Mar 15; 4(3):323-8. PubMed ID: 7795583
    [Abstract] [Full Text] [Related]

  • 15. 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 15; 34(8):683-4. PubMed ID: 9279764
    [Abstract] [Full Text] [Related]

  • 16. Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in "lost" descendants of the original kindred.
    Heike C, Seto M, Hing A, Palidin A, Hu FZ, Preston RA, Ehrlich GD, Cunningham M.
    Am J Med Genet; 2001 May 15; 100(4):315-24. PubMed ID: 11343323
    [Abstract] [Full Text] [Related]

  • 17. Additional phenotypic features of Muenke syndrome in 2 Dutch families.
    de Jong T, Mathijssen IM, Hoogeboom AJ.
    J Craniofac Surg; 2011 Mar 15; 22(2):571-5. PubMed ID: 21403557
    [Abstract] [Full Text] [Related]

  • 18. Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
    Oldridge M, Lunt PW, Zackai EH, McDonald-McGinn DM, Muenke M, Moloney DM, Twigg SR, Heath JK, Howard TD, Hoganson G, Gagnon DM, Jabs EW, Wilkie AO.
    Hum Mol Genet; 1997 Jan 15; 6(1):137-43. PubMed ID: 9002682
    [Abstract] [Full Text] [Related]

  • 19. Familial craniosynostosis due to Pro250Arg mutation in the fibroblast growth factor receptor 3 gene.
    Hughes J, Nevin NC, Morrison PJ.
    Ulster Med J; 2001 May 15; 70(1):47-50. PubMed ID: 11428324
    [No Abstract] [Full Text] [Related]

  • 20. Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.
    Rannan-Eliya SV, Taylor IB, De Heer IM, Van Den Ouweland AM, Wall SA, Wilkie AO.
    Hum Genet; 2004 Aug 15; 115(3):200-7. PubMed ID: 15241680
    [Abstract] [Full Text] [Related]

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