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Journal Abstract Search

251 related items for PubMed ID: 9002682

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  • 4. 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
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  • 5. [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
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  • 6. 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 12; 12(6):580-5. PubMed ID: 11711827
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  • 8. 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 12; 8(3):275-9. PubMed ID: 7874170
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  • 9. Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.
    Anderson J, Burns HD, Enriquez-Harris P, Wilkie AO, Heath JK.
    Hum Mol Genet; 1998 Sep 12; 7(9):1475-83. PubMed ID: 9700203
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  • 10. Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.
    Gripp KW, Stolle CA, McDonald-McGinn DM, Markowitz RI, Bartlett SP, Katowitz JA, Muenke M, Zackai EH.
    Am J Med Genet; 1998 Jul 24; 78(4):356-60. PubMed ID: 9714439
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  • 11. 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 24; 14(2):174-6. PubMed ID: 8841188
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  • 13. 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 24; 58(3):491-8. PubMed ID: 8644708
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  • 14. De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.
    Oldridge M, Zackai EH, McDonald-McGinn DM, Iseki S, Morriss-Kay GM, Twigg SR, Johnson D, Wall SA, Jiang W, Theda C, Jabs EW, Wilkie AO.
    Am J Hum Genet; 1999 Feb 24; 64(2):446-61. PubMed ID: 9973282
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  • 15. 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 24; 95(4):660-73. PubMed ID: 11596961
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  • 16. 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 24; 102(1 Suppl):23-30. PubMed ID: 16206730
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  • 17. Mutation detection in FGFR2 craniosynostosis syndromes.
    Hollway GE, Suthers GK, Haan EA, Thompson E, David DJ, Gecz J, Mulley JC.
    Hum Genet; 1997 Feb 24; 99(2):251-5. PubMed ID: 9048930
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  • 18. Craniosynostosis and related limb anomalies.
    Wilkie AO, Oldridge M, Tang Z, Maxson RE.
    Novartis Found Symp; 2001 Feb 24; 232():122-33; discussion 133-43. PubMed ID: 11277076
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  • 19. Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.
    Schell U, Hehr A, Feldman GJ, Robin NH, Zackai EH, de Die-Smulders C, Viskochil DH, Stewart JM, Wolff G, Ohashi H.
    Hum Mol Genet; 1995 Mar 24; 4(3):323-8. PubMed ID: 7795583
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  • 20. Molecular diagnosis of bilateral coronal synostosis.
    Mulliken JB, Steinberger D, Kunze S, Müller U.
    Plast Reconstr Surg; 1999 Nov 24; 104(6):1603-15. PubMed ID: 10541159
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