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Journal Abstract Search

155 related items for PubMed ID: 11807866

  • 1. Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2.
    Teebi AS, Kennedy S, Chun K, Ray PN.
    Am J Med Genet; 2002 Jan 01; 107(1):43-7. PubMed ID: 11807866
    [Abstract] [Full Text] [Related]

  • 2. 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 01; 58(3):491-8. PubMed ID: 8644708
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.
    Tartaglia M, Valeri S, Velardi F, Di Rocco C, Battaglia PA.
    Hum Genet; 1997 May 07; 99(5):602-6. PubMed ID: 9150725
    [Abstract] [Full Text] [Related]

  • 5. Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.
    Cornejo-Roldan LR, Roessler E, Muenke M.
    Hum Genet; 1999 May 07; 104(5):425-31. PubMed ID: 10394936
    [Abstract] [Full Text] [Related]

  • 6. A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes.
    Hajihosseini MK, Wilson S, De Moerlooze L, Dickson C.
    Proc Natl Acad Sci U S A; 2001 Mar 27; 98(7):3855-60. PubMed ID: 11274405
    [Abstract] [Full Text] [Related]

  • 7. 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 27; 70(2):472-86. PubMed ID: 11781872
    [Abstract] [Full Text] [Related]

  • 8. Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome.
    Zankl A, Jaeger G, Bonafé L, Boltshauser E, Superti-Furga A.
    Am J Med Genet A; 2004 Dec 15; 131(3):299-300. PubMed ID: 15523615
    [Abstract] [Full Text] [Related]

  • 9. Molecular diagnosis of bilateral coronal synostosis.
    Mulliken JB, Steinberger D, Kunze S, Müller U.
    Plast Reconstr Surg; 1999 Nov 15; 104(6):1603-15. PubMed ID: 10541159
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 9(2):173-6. PubMed ID: 7719345
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 4(8):1387-90. PubMed ID: 7581378
    [Abstract] [Full Text] [Related]

  • 12. 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 15; 32(2):425-8. PubMed ID: 11556600
    [Abstract] [Full Text] [Related]

  • 13. 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 15; 95(4):660-73. PubMed ID: 11596961
    [Abstract] [Full Text] [Related]

  • 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 15; 64(2):446-61. PubMed ID: 9973282
    [Abstract] [Full Text] [Related]

  • 15. Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case.
    Schaefer F, Anderson C, Can B, Say B.
    Am J Med Genet; 1998 Jan 23; 75(3):252-5. PubMed ID: 9475591
    [Abstract] [Full Text] [Related]

  • 16. Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2.
    Tsukuno M, Suzuki H, Eto Y.
    J Craniofac Genet Dev Biol; 1999 Jan 23; 19(4):183-8. PubMed ID: 10731087
    [Abstract] [Full Text] [Related]

  • 17. 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 Jan 23; 91(1-4):134-7. PubMed ID: 11173845
    [Abstract] [Full Text] [Related]

  • 18. Abnormal spliceform expression associated with splice acceptor mutations in exon IIIc of FGFR2.
    Wilkie AO.
    Am J Med Genet; 2002 Jul 22; 111(1):105. PubMed ID: 12124745
    [No Abstract] [Full Text] [Related]

  • 19. The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation.
    Rossi M, Jones RL, Norbury G, Bloch-Zupan A, Winter RM.
    Clin Dysmorphol; 2003 Oct 22; 12(4):269-74. PubMed ID: 14564217
    [Abstract] [Full Text] [Related]

  • 20. Mutation detection in FGFR2 craniosynostosis syndromes.
    Hollway GE, Suthers GK, Haan EA, Thompson E, David DJ, Gecz J, Mulley JC.
    Hum Genet; 1997 Feb 22; 99(2):251-5. PubMed ID: 9048930
    [Abstract] [Full Text] [Related]

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