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Journal Abstract Search

509 related items for PubMed ID: 21928350

  • 21. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
    Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW.
    Nat Genet; 1995 Dec; 11(4):462-4. PubMed ID: 7493034
    [Abstract] [Full Text] [Related]

  • 22. Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation.
    Chen CP, Lin SP, Su YN, Chien SC, Tsai FJ, Wang W.
    Genet Couns; 2008 Dec; 19(2):165-72. PubMed ID: 18618990
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  • 23. The Ser252Trp fibroblast growth factor receptor-2 (FGFR-2) mutation induces PKC-independent downregulation of FGFR-2 associated with premature calvaria osteoblast differentiation.
    Lemonnier J, Delannoy P, Hott M, Lomri A, Modrowski D, Marie PJ.
    Exp Cell Res; 2000 Apr 10; 256(1):158-67. PubMed ID: 10739663
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  • 26. Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
    Kress W, Collmann H, Büsse M, Halliger-Keller B, Mueller CR.
    Cytogenet Cell Genet; 2000 Apr 10; 91(1-4):134-7. PubMed ID: 11173845
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  • 27. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
    Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao JI, Charnas LR, Jackson CE, Jaye M.
    Nat Genet; 1994 Nov 10; 8(3):275-9. PubMed ID: 7874170
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  • 29. A role for fibroblast growth factor receptor-2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the Saethre-Chotzen syndrome.
    Guenou H, Kaabeche K, Mée SL, Marie PJ.
    Hum Mol Genet; 2005 Jun 01; 14(11):1429-39. PubMed ID: 15829502
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  • 30. The missense mutation W290R in Fgfr2 causes developmental defects from aberrant IIIb and IIIc signaling.
    Mai S, Wei K, Flenniken A, Adamson SL, Rossant J, Aubin JE, Gong SG.
    Dev Dyn; 2010 Jun 01; 239(6):1888-900. PubMed ID: 20503384
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  • 31. A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene.
    Shotelersuk V, Srivuthana S, Ittiwut C, Theamboonlers A, Mahatumarat C, Poovorawan Y.
    Southeast Asian J Trop Med Public Health; 2001 Jun 01; 32(2):425-8. PubMed ID: 11556600
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  • 32. Prenatal exclusion of Crouzon syndrome by mutation analysis of FGFR2.
    Phupong V, Srichomthong C, Shotelersuk V.
    Southeast Asian J Trop Med Public Health; 2004 Dec 01; 35(4):977-9. PubMed ID: 15916101
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  • 33. FGFR2 Mutation p.Cys342Arg Enhances Mitochondrial Metabolism-Mediated Osteogenesis via FGF/FGFR-AMPK-Erk1/2 Axis in Crouzon Syndrome.
    Wang Y, Liu Y, Chen H, Liu X, Zhang Y, Wang Y, Gu Y.
    Cells; 2022 Oct 05; 11(19):. PubMed ID: 36231091
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  • 34. Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion.
    Oliveira NA, Alonso LG, Fanganiello RD, Passos-Bueno MR.
    Birth Defects Res A Clin Mol Teratol; 2006 Aug 05; 76(8):629-33. PubMed ID: 16955501
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  • 35. Extracellular point mutations in FGFR2 result in elevated ERK1/2 activation and perturbation of neuronal differentiation.
    Schüller AC, Ahmed Z, Ladbury JE.
    Biochem J; 2008 Feb 15; 410(1):205-11. PubMed ID: 18039182
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  • 37. Osteoblast proliferation or differentiation is regulated by relative strengths of opposing signaling pathways.
    Raucci A, Bellosta P, Grassi R, Basilico C, Mansukhani A.
    J Cell Physiol; 2008 May 15; 215(2):442-51. PubMed ID: 17960591
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  • 38. FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.
    Meyers GA, Day D, Goldberg R, Daentl DL, Przylepa KA, Abrams LJ, Graham JM, Feingold M, Moeschler JB, Rawnsley E, Scott AF, Jabs EW.
    Am J Hum Genet; 1996 Mar 15; 58(3):491-8. PubMed ID: 8644708
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