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Journal Abstract Search

164 related items for PubMed ID: 8676563

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  • 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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  • 5. [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 07; 44(5):435-8. PubMed ID: 8676562
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  • 8. 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 07; 9(2):173-6. PubMed ID: 7719345
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  • 11. A novel fibroblast growth factor receptor 2 mutation in Crouzon syndrome associated with Chiari type I malformation and syringomyelia.
    Fujisawa H, Hasegawa M, Kida S, Yamashita J.
    J Neurosurg; 2002 Aug 07; 97(2):396-400. PubMed ID: 12186468
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  • 12. 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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  • 13. Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
    Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, Hall BD, Stevenson R, Orlow S, Cohen MM, Jabs EW.
    Nat Genet; 1996 Aug 07; 13(4):492-4. PubMed ID: 8696350
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  • 14. Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.
    Gorry MC, Preston RA, White GJ, Zhang Y, Singhal VK, Losken HW, Parker MG, Nwokoro NA, Post JC, Ehrlich GD.
    Hum Mol Genet; 1995 Aug 07; 4(8):1387-90. PubMed ID: 7581378
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  • 15. 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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  • 17. Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
    Park WJ, Meyers GA, Li X, Theda C, Day D, Orlow SJ, Jones MC, Jabs EW.
    Hum Mol Genet; 1995 Jul 07; 4(7):1229-33. PubMed ID: 8528214
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