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Journal Abstract Search

509 related items for PubMed ID: 21928350

  • 1. 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; 113(2):457-64. PubMed ID: 21928350
    [Abstract] [Full Text] [Related]

  • 2. A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis.
    Yin L, Du X, Li C, Xu X, Chen Z, Su N, Zhao L, Qi H, Li F, Xue J, Yang J, Jin M, Deng C, Chen L.
    Bone; 2008 Apr; 42(4):631-43. PubMed ID: 18242159
    [Abstract] [Full Text] [Related]

  • 3. 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; 9(2):173-6. PubMed ID: 7719345
    [Abstract] [Full Text] [Related]

  • 4. Apert syndrome mutant FGFR2 and its soluble form reciprocally alter osteogenesis of primary calvarial osteoblasts.
    Suzuki H, Suda N, Shiga M, Kobayashi Y, Nakamura M, Iseki S, Moriyama K.
    J Cell Physiol; 2012 Sep; 227(9):3267-77. PubMed ID: 22105374
    [Abstract] [Full Text] [Related]

  • 5. Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts.
    Ang BU, Spivak RM, Nah HD, Kirschner RE.
    J Craniofac Surg; 2010 Mar; 21(2):462-7. PubMed ID: 20489451
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. [From gene to disease; craniosynostosis syndromes due to FGFR2-mutation].
    van Ravenswaaij-Arts CM, van den Ouweland AM, Hoogeboom AJ, Herbergs J, Pals G.
    Ned Tijdschr Geneeskd; 2002 Jan 12; 146(2):63-6. PubMed ID: 11820058
    [Abstract] [Full Text] [Related]

  • 8. 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 12; 14(3):289-98. PubMed ID: 16418739
    [Abstract] [Full Text] [Related]

  • 9. Increased EFG- and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis.
    Miraoui H, Ringe J, Häupl T, Marie PJ.
    Hum Mol Genet; 2010 May 01; 19(9):1678-89. PubMed ID: 20124286
    [Abstract] [Full Text] [Related]

  • 10. A novel FGFR2 mutation in tyrosine kinase II domain, L617F, in Crouzon syndrome.
    Suh YJ, Bae HS, Choi JY, Lee JH, Kim MJ, Kim S, Ryoo HM, Baek SH.
    J Cell Biochem; 2014 Jan 01; 115(1):102-10. PubMed ID: 23913723
    [Abstract] [Full Text] [Related]

  • 11. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
    Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P.
    Nat Genet; 1995 Feb 01; 9(2):165-72. PubMed ID: 7719344
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 14(2):174-6. PubMed ID: 8841188
    [Abstract] [Full Text] [Related]

  • 13. A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
    de Ravel TJ, Taylor IB, Van Oostveldt AJ, Fryns JP, Wilkie AO.
    Eur J Hum Genet; 2005 Apr 01; 13(4):503-5. PubMed ID: 15523492
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 50(5):482-90. PubMed ID: 24656465
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 70(2):472-86. PubMed ID: 11781872
    [Abstract] [Full Text] [Related]

  • 16. Negative autoregulation of fibroblast growth factor receptor 2 expression characterizing cranial development in cases of Apert (P253R mutation) and Pfeiffer (C278F mutation) syndromes and suggesting a basis for differences in their cranial phenotypes.
    Britto JA, Moore RL, Evans RD, Hayward RD, Jones BM.
    J Neurosurg; 2001 Oct 01; 95(4):660-73. PubMed ID: 11596961
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 168(9):1135-9. PubMed ID: 19066959
    [Abstract] [Full Text] [Related]

  • 18. S267P mutation in FGFR2: first report in a patient with Crouzon syndrome.
    Ke R, Yang X, Ge M, Cai T, Lei J, Mu X.
    J Craniofac Surg; 2015 Mar 01; 26(2):592-4. PubMed ID: 25759927
    [Abstract] [Full Text] [Related]

  • 19. Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
    Roscioli T, Elakis G, Cox TC, Moon DJ, Venselaar H, Turner AM, Le T, Hackett E, Haan E, Colley A, Mowat D, Worgan L, Kirk EP, Sachdev R, Thompson E, Gabbett M, McGaughran J, Gibson K, Gattas M, Freckmann ML, Dixon J, Hoefsloot L, Field M, Hackett A, Kamien B, Edwards M, Adès LC, Collins FA, Wilson MJ, Savarirayan R, Tan TY, Amor DJ, McGillivray G, White SM, Glass IA, David DJ, Anderson PJ, Gianoutsos M, Buckley MF.
    Am J Med Genet C Semin Med Genet; 2013 Nov 01; 163C(4):259-70. PubMed ID: 24127277
    [Abstract] [Full Text] [Related]

  • 20. Fibroblast growth factor receptor 2 promotes osteogenic differentiation in mesenchymal cells via ERK1/2 and protein kinase C signaling.
    Miraoui H, Oudina K, Petite H, Tanimoto Y, Moriyama K, Marie PJ.
    J Biol Chem; 2009 Feb 20; 284(8):4897-904. PubMed ID: 19117954
    [Abstract] [Full Text] [Related]

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