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Journal Abstract Search

273 related items for PubMed ID: 11274405

  • 21. Pfeiffer syndrome type 2: further delineation and review of the literature.
    Plomp AS, Hamel BC, Cobben JM, Verloes A, Offermans JP, Lajeunie E, Fryns JP, de Die-Smulders CE.
    Am J Med Genet; 1998 Jan 23; 75(3):245-51. PubMed ID: 9475590
    [Abstract] [Full Text] [Related]

  • 22. Clinical spectrum of fibroblast growth factor receptor mutations.
    Passos-Bueno MR, Wilcox WR, Jabs EW, Sertié AL, Alonso LG, Kitoh H.
    Hum Mutat; 1999 Jan 23; 14(2):115-25. PubMed ID: 10425034
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  • 23. Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation.
    Gonzales M, Heuertz S, Martinovic J, Delahaye S, Bazin A, Loget P, Pasquier L, Le Merrer M, Bonaventure J.
    Clin Genet; 2005 Aug 23; 68(2):179-81. PubMed ID: 15996217
    [No Abstract] [Full Text] [Related]

  • 24. 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]

  • 25. FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis.
    Kanauchi Y, Muragaki Y, Ogino T, Takahara M, Tsuchida H, Ishigaki D.
    Congenit Anom (Kyoto); 2003 Dec 22; 43(4):302-5. PubMed ID: 15041782
    [Abstract] [Full Text] [Related]

  • 26. Exon III splicing switch of fibroblast growth factor (FGF) receptor-2 and -3 can be induced by FGF-1 or FGF-2.
    Scotet E, Houssaint E.
    Oncogene; 1998 Jul 09; 17(1):67-76. PubMed ID: 9671315
    [Abstract] [Full Text] [Related]

  • 27. A Ser252Trp [corrected] substitution in mouse fibroblast growth factor receptor 2 (Fgfr2) results in craniosynostosis.
    Chen L, Li D, Li C, Engel A, Deng CX.
    Bone; 2003 Aug 09; 33(2):169-78. PubMed ID: 14499350
    [Abstract] [Full Text] [Related]

  • 28. FGFs, their receptors, and human limb malformations: clinical and molecular correlations.
    Wilkie AO, Patey SJ, Kan SH, van den Ouweland AM, Hamel BC.
    Am J Med Genet; 2002 Oct 15; 112(3):266-78. PubMed ID: 12357470
    [Abstract] [Full Text] [Related]

  • 29. Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.
    Cornejo-Roldan LR, Roessler E, Muenke M.
    Hum Genet; 1999 May 15; 104(5):425-31. PubMed ID: 10394936
    [Abstract] [Full Text] [Related]

  • 30. 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]

  • 31. 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
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  • 34. Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G).
    Kan R, Twigg SR, Berg J, Wang L, Jin F, Wilkie AO.
    J Med Genet; 2004 Aug 15; 41(8):e108. PubMed ID: 15286168
    [No Abstract] [Full Text] [Related]

  • 35. 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]

  • 36. Activating (P253R, C278F) and dominant negative mutations of FGFR2: differential effects on calvarial bone cell proliferation, differentiation, and mineralization.
    Ratisoontorn C, Fan GF, McEntee K, Nah HD.
    Connect Tissue Res; 2003 Aug 15; 44 Suppl 1():292-7. PubMed ID: 12952211
    [Abstract] [Full Text] [Related]

  • 37. Fibroblast growth factor receptor 2 (Fgfr2) plays an important role in eyelid and skin formation and patterning.
    Li C, Guo H, Xu X, Weinberg W, Deng CX.
    Dev Dyn; 2001 Nov 15; 222(3):471-83. PubMed ID: 11747081
    [Abstract] [Full Text] [Related]

  • 38. Clinical variability in patients with Apert's syndrome.
    Lajeunie E, Cameron R, El Ghouzzi V, de Parseval N, Journeau P, Gonzales M, Delezoide AL, Bonaventure J, Le Merrer M, Renier D.
    J Neurosurg; 1999 Mar 15; 90(3):443-7. PubMed ID: 10067911
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