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Journal Abstract Search

183 related items for PubMed ID: 9107244

  • 1. 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
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  • 3. 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 12; 89(6):672-4. PubMed ID: 10914960
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  • 4. 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
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  • 5. 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
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  • 7. 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 26; 132(4):714-6. PubMed ID: 9580776
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  • 8. Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis.
    González-Del Angel A, Estandía-Ortega B, Alcántara-Ortigoza MA, Martínez-Cruz V, Gutiérrez-Tinajero DJ, Rasmussen A, Gómez-González CS.
    Am J Med Genet A; 2016 Dec 26; 170(12):3189-3196. PubMed ID: 27568649
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  • 9. 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 26; 36(1):9-13. PubMed ID: 9950359
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  • 11. 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 26; 60(3):555-64. PubMed ID: 9042914
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  • 12. [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 26; 33(1):53-7. PubMed ID: 11197897
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  • 13. [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 26; 7(3):132-7. PubMed ID: 12764678
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  • 14. 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 26; 34(8):632-6. PubMed ID: 9279753
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  • 16. 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.
    Nat Genet; 1996 Oct 26; 14(2):174-6. PubMed ID: 8841188
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  • 18. 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 26; 108(7):1849-54. PubMed ID: 11743367
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  • 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 26; 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 26; 115(3):200-7. PubMed ID: 15241680
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