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Journal Abstract Search

310 related items for PubMed ID: 11711827

  • 1. 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(6):580-5. PubMed ID: 11711827
    [Abstract] [Full Text] [Related]

  • 2. 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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  • 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 07; 9(2):165-72. PubMed ID: 7719344
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  • 6. FGFR2 mutations among Thai children with Crouzon and Apert syndromes.
    Shotelersuk V, Mahatumarat C, Ittiwut C, Rojvachiranonda N, Srivuthana S, Wacharasindhu S, Tongkobpetch S.
    J Craniofac Surg; 2003 Jan 07; 14(1):101-4; discussion 105-7. PubMed ID: 12544231
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  • 7. 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 07; 50(5):482-90. PubMed ID: 24656465
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  • 8. 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 07; 58(3):491-8. PubMed ID: 8644708
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  • 9. [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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  • 11. [Nucleotide sequences at intron 6 and exon 7 junction of fibroblast growth factor receptor 2 and rapid mutational analysis in Apert syndrome].
    Wada C, Ishigaki M, Toyo-oka Y, Yamabe H, Ohnuki Y, Takada F, Yamazaki Y, Ohtani H.
    Rinsho Byori; 1996 May 12; 44(5):435-8. PubMed ID: 8676562
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  • 12. 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 12; 21(2):462-7. PubMed ID: 20489451
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  • 13. Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
    Oldridge M, Lunt PW, Zackai EH, McDonald-McGinn DM, Muenke M, Moloney DM, Twigg SR, Heath JK, Howard TD, Hoganson G, Gagnon DM, Jabs EW, Wilkie AO.
    Hum Mol Genet; 1997 Jan 12; 6(1):137-43. PubMed ID: 9002682
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  • 14. 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 12; 101(1):47-50. PubMed ID: 9385368
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  • 16. Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.
    Slaney SF, Oldridge M, Hurst JA, Moriss-Kay GM, Hall CM, Poole MD, Wilkie AO.
    Am J Hum Genet; 1996 May 12; 58(5):923-32. PubMed ID: 8651276
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  • 19. 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 12; 95(4):660-73. PubMed ID: 11596961
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