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Journal Abstract Search

661 related items for PubMed ID: 24656465

  • 1. Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
    Nur BG, Pehlivanoğlu S, Mıhçı E, Calışkan M, Demir D, Alper OM, Kayserili H, Lüleci G.
    Pediatr Neurol; 2014 May; 50(5):482-90. PubMed ID: 24656465
    [Abstract] [Full Text] [Related]

  • 2. Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.
    Tartaglia M, Di Rocco C, Lajeunie E, Valeri S, Velardi F, Battaglia PA.
    Hum Genet; 1997 Nov; 101(1):47-50. PubMed ID: 9385368
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  • 3. Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
    Passos-Bueno MR, Sertié AL, Richieri-Costa A, Alonso LG, Zatz M, Alonso N, Brunoni D, Ribeiro SF.
    Am J Med Genet; 1998 Jul 07; 78(3):237-41. PubMed ID: 9677057
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  • 5. Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.
    Lajeunie E, Heuertz S, El Ghouzzi V, Martinovic J, Renier D, Le Merrer M, Bonaventure J.
    Eur J Hum Genet; 2006 Mar 07; 14(3):289-98. PubMed ID: 16418739
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  • 7. Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
    Kan SH, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SR, Rannan-Eliya S, McDonald-McGinn DM, Zackai EH, Wall SA, Muenke M, Wilkie AO.
    Am J Hum Genet; 2002 Feb 07; 70(2):472-86. PubMed ID: 11781872
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  • 8. Phenotypic diversity in patients with craniosynostoses unrelated to Apert syndrome: the role of fibroblast growth factor receptor gene mutations.
    Ito S, Sekido K, Kanno H, Sato H, Tanaka M, Yamaguchi K, Yamamoto I.
    J Neurosurg; 2005 Jan 07; 102(1 Suppl):23-30. PubMed ID: 16206730
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  • 9. Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.
    Piccione M, Antona V, Niceta M, Fabiano C, Martines M, Bianchi A, Corsello G.
    Eur J Pediatr; 2009 Sep 07; 168(9):1135-9. PubMed ID: 19066959
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  • 10. Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.
    Azoury SC, Reddy S, Shukla V, Deng CX.
    Int J Biol Sci; 2017 Sep 07; 13(12):1479-1488. PubMed ID: 29230096
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  • 11. 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 07; 12(6):580-5. PubMed ID: 11711827
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  • 13. Clinical and genetic characteristics of craniosynostosis in Hungary.
    Bessenyei B, Nagy A, Szakszon K, Mokánszki A, Balogh E, Ujfalusi A, Tihanyi M, Novák L, Bognár L, Oláh É.
    Am J Med Genet A; 2015 Dec 07; 167A(12):2985-91. PubMed ID: 26289989
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  • 14. Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
    Park WJ, Meyers GA, Li X, Theda C, Day D, Orlow SJ, Jones MC, Jabs EW.
    Hum Mol Genet; 1995 Jul 07; 4(7):1229-33. PubMed ID: 8528214
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  • 15. Functional characterization of a novel FGFR2 mutation, E731K, in craniosynostosis.
    Park J, Park OJ, Yoon WJ, Kim HJ, Choi KY, Cho TJ, Ryoo HM.
    J Cell Biochem; 2012 Feb 07; 113(2):457-64. PubMed ID: 21928350
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  • 17. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.
    Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF.
    Nat Genet; 1995 Feb 07; 9(2):173-6. PubMed ID: 7719345
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  • 19. Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
    Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, Hall BD, Stevenson R, Orlow S, Cohen MM, Jabs EW.
    Nat Genet; 1996 Aug 07; 13(4):492-4. PubMed ID: 8696350
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  • 20. Syndromic craniosynostosis: from history to hydrogen bonds.
    Cunningham ML, Seto ML, Ratisoontorn C, Heike CL, Hing AV.
    Orthod Craniofac Res; 2007 May 07; 10(2):67-81. PubMed ID: 17552943
    [Abstract] [Full Text] [Related]

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