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545 related items for PubMed ID: 7719345

  • 1. 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; 9(2):173-6. PubMed ID: 7719345
    [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
    [Abstract] [Full Text] [Related]

  • 3. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
    Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S.
    Nat Genet; 1994 Sep 07; 8(1):98-103. PubMed ID: 7987400
    [Abstract] [Full Text] [Related]

  • 4. 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 07; 14(2):174-6. PubMed ID: 8841188
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 6. 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 12; 9(2):165-72. PubMed ID: 7719344
    [Abstract] [Full Text] [Related]

  • 7. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
    Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW.
    Nat Genet; 1995 Dec 12; 11(4):462-4. PubMed ID: 7493034
    [Abstract] [Full Text] [Related]

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

  • 9. 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 Jun 12; 91(1-4):134-7. PubMed ID: 11173845
    [Abstract] [Full Text] [Related]

  • 10. 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 12; 4(8):1387-90. PubMed ID: 7581378
    [Abstract] [Full Text] [Related]

  • 11. A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
    de Ravel TJ, Taylor IB, Van Oostveldt AJ, Fryns JP, Wilkie AO.
    Eur J Hum Genet; 2005 Apr 12; 13(4):503-5. PubMed ID: 15523492
    [Abstract] [Full Text] [Related]

  • 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 12; 58(3):491-8. PubMed ID: 8644708
    [Abstract] [Full Text] [Related]

  • 13. Prenatal exclusion of Crouzon syndrome by mutation analysis of FGFR2.
    Phupong V, Srichomthong C, Shotelersuk V.
    Southeast Asian J Trop Med Public Health; 2004 Dec 12; 35(4):977-9. PubMed ID: 15916101
    [Abstract] [Full Text] [Related]

  • 14. Functional characterization of a novel FGFR2 mutation, E731K, in craniosynostosis.
    Park J, Park OJ, Yoon WJ, Kim HJ, Choi KY, Cho TJ, Ryoo HM.
    J Cell Biochem; 2012 Feb 12; 113(2):457-64. PubMed ID: 21928350
    [Abstract] [Full Text] [Related]

  • 15. First-trimester prenatal diagnosis of Crouzon syndrome.
    Schwartz M, Kreiborg S, Skovby F.
    Prenat Diagn; 1996 Feb 12; 16(2):155-8. PubMed ID: 8650126
    [Abstract] [Full Text] [Related]

  • 16. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.
    Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall SA, Wilkie AO, Jabs EW.
    Am J Hum Genet; 2000 Mar 12; 66(3):768-77. PubMed ID: 10712195
    [Abstract] [Full Text] [Related]

  • 17. 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 12; 70(2):472-86. PubMed ID: 11781872
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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