These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

543 related items for PubMed ID: 16418739

  • 1. Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.
    Lajeunie E, Heuertz S, El Ghouzzi V, Martinovic J, Renier D, Le Merrer M, Bonaventure J.
    Eur J Hum Genet; 2006 Mar; 14(3):289-98. PubMed ID: 16418739
    [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. Phenotypic diversity in patients with craniosynostoses unrelated to Apert syndrome: the role of fibroblast growth factor receptor gene mutations.
    Ito S, Sekido K, Kanno H, Sato H, Tanaka M, Yamaguchi K, Yamamoto I.
    J Neurosurg; 2005 Jan 07; 102(1 Suppl):23-30. PubMed ID: 16206730
    [Abstract] [Full Text] [Related]

  • 4. Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.
    Ohishi A, Nishimura G, Kato F, Ono H, Maruwaka K, Ago M, Suzumura H, Hirose E, Uchida Y, Fukami M, Ogata T.
    Am J Med Genet A; 2017 Jan 07; 173(1):157-162. PubMed ID: 27683237
    [Abstract] [Full Text] [Related]

  • 5. FGFR1 and FGFR2 mutations in Pfeiffer syndrome.
    Chokdeemboon C, Mahatumarat C, Rojvachiranonda N, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V.
    J Craniofac Surg; 2013 Jan 07; 24(1):150-2. PubMed ID: 23348274
    [Abstract] [Full Text] [Related]

  • 6. The missense mutation W290R in Fgfr2 causes developmental defects from aberrant IIIb and IIIc signaling.
    Mai S, Wei K, Flenniken A, Adamson SL, Rossant J, Aubin JE, Gong SG.
    Dev Dyn; 2010 Jun 07; 239(6):1888-900. PubMed ID: 20503384
    [Abstract] [Full Text] [Related]

  • 7. [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]

  • 8. 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 12; 50(5):482-90. PubMed ID: 24656465
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
    Roscioli T, Elakis G, Cox TC, Moon DJ, Venselaar H, Turner AM, Le T, Hackett E, Haan E, Colley A, Mowat D, Worgan L, Kirk EP, Sachdev R, Thompson E, Gabbett M, McGaughran J, Gibson K, Gattas M, Freckmann ML, Dixon J, Hoefsloot L, Field M, Hackett A, Kamien B, Edwards M, Adès LC, Collins FA, Wilson MJ, Savarirayan R, Tan TY, Amor DJ, McGillivray G, White SM, Glass IA, David DJ, Anderson PJ, Gianoutsos M, Buckley MF.
    Am J Med Genet C Semin Med Genet; 2013 Nov 12; 163C(4):259-70. PubMed ID: 24127277
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 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. 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 12; 4(7):1229-33. PubMed ID: 8528214
    [Abstract] [Full Text] [Related]

  • 14. 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 12; 9(2):173-6. PubMed ID: 7719345
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 12; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. 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 12; 14(2):174-6. PubMed ID: 8841188
    [Abstract] [Full Text] [Related]

  • 19. 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 12; 99(5):602-6. PubMed ID: 9150725
    [Abstract] [Full Text] [Related]

  • 20. [Frequent missense mutations of fibroblast growth factor receptor (FGFR) gene families in craniofacial syndromes in Japanese patients].
    Ishigaki M, Wada C, Toyo-oka Y, Yamabe H, Ohnuki Y, Takada F, Yamazaki Y, Ohtani H.
    Rinsho Byori; 1996 May 12; 44(5):439-43. PubMed ID: 8676563
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 28.