BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

507 related articles for article (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
    [TBL] [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
    [TBL] [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
    [TBL] [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
    [TBL] [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
    [TBL] [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; 78(3):237-41. PubMed ID: 9677057
    [TBL] [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; 146(2):63-6. PubMed ID: 11820058
    [TBL] [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; 14(3):289-98. PubMed ID: 16418739
    [TBL] [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; 19(9):1678-89. PubMed ID: 20124286
    [TBL] [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; 115(1):102-10. PubMed ID: 23913723
    [TBL] [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; 9(2):165-72. PubMed ID: 7719344
    [TBL] [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; 14(2):174-6. PubMed ID: 8841188
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 70(2):472-86. PubMed ID: 11781872
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 13(4):503-5. PubMed ID: 15523492
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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
    [TBL] [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; 95(4):660-73. PubMed ID: 11596961
    [TBL] [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; 168(9):1135-9. PubMed ID: 19066959
    [TBL] [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; 26(2):592-4. PubMed ID: 25759927
    [TBL] [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; 163C(4):259-70. PubMed ID: 24127277
    [TBL] [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; 284(8):4897-904. PubMed ID: 19117954
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 26.