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Journal Abstract Search

169 related items for PubMed ID: 9950359

  • 1. 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; 36(1):9-13. PubMed ID: 9950359
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  • 3. [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; 33(1):53-7. PubMed ID: 11197897
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  • 6. [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; 7(3):132-7. PubMed ID: 12764678
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  • 7. 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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  • 8. 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 12; 60(3):555-64. PubMed ID: 9042914
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  • 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 12; 108(7):1849-54. PubMed ID: 11743367
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  • 15. Muenke syndrome: Medical and surgical comorbidities and long-term management.
    Murali CN, McDonald-McGinn DM, Wenger TL, McDougall C, Stroup BM, Sheppard SE, Taylor J, Bartlett SP, Bhoj EJ, Zackai EH, Santani A.
    Am J Med Genet A; 2019 Aug 12; 179(8):1442-1450. PubMed ID: 31111620
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  • 16. [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 12; 220(10):669-81. PubMed ID: 14577033
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  • 19. A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature.
    Aravidis C, Konialis CP, Pangalos CG, Kosmaidou Z.
    J Matern Fetal Neonatal Med; 2014 Sep 12; 27(14):1502-6. PubMed ID: 24168007
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