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Journal Abstract Search

630 related items for PubMed ID: 16206730

  • 1. 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; 102(1 Suppl):23-30. PubMed ID: 16206730
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 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. [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 07; 44(5):439-43. PubMed ID: 8676563
    [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. 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]

  • 7. FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.
    Steinberger D, Reinhartz T, Unsöld R, Müller U.
    Am J Med Genet; 1996 Dec 02; 66(1):81-6. PubMed ID: 8957519
    [Abstract] [Full Text] [Related]

  • 8. 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 02; 8(3):275-9. PubMed ID: 7874170
    [Abstract] [Full Text] [Related]

  • 9. Molecular diagnosis of bilateral coronal synostosis.
    Mulliken JB, Steinberger D, Kunze S, Müller U.
    Plast Reconstr Surg; 1999 Nov 02; 104(6):1603-15. PubMed ID: 10541159
    [Abstract] [Full Text] [Related]

  • 10. 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 02; 101(1):47-50. PubMed ID: 9385368
    [Abstract] [Full Text] [Related]

  • 11. 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 02; 11(4):462-4. PubMed ID: 7493034
    [Abstract] [Full Text] [Related]

  • 12. 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 02; 9(2):173-6. PubMed ID: 7719345
    [Abstract] [Full Text] [Related]

  • 13.
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  • 14. Role of the extracellular matrix and growth factors in skull morphogenesis and in the pathogenesis of craniosynostosis.
    Carinci P, Becchetti E, Bodo M.
    Int J Dev Biol; 2000 Feb 02; 44(6):715-23. PubMed ID: 11061436
    [Abstract] [Full Text] [Related]

  • 15. 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 02; 14(2):174-6. PubMed ID: 8841188
    [Abstract] [Full Text] [Related]

  • 16. 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 02; 95(4):660-73. PubMed ID: 11596961
    [Abstract] [Full Text] [Related]

  • 17. 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 02; 9(2):165-72. PubMed ID: 7719344
    [Abstract] [Full Text] [Related]

  • 18. Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
    Oldridge M, Lunt PW, Zackai EH, McDonald-McGinn DM, Muenke M, Moloney DM, Twigg SR, Heath JK, Howard TD, Hoganson G, Gagnon DM, Jabs EW, Wilkie AO.
    Hum Mol Genet; 1997 Jan 02; 6(1):137-43. PubMed ID: 9002682
    [Abstract] [Full Text] [Related]

  • 19. 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 02; 70(2):472-86. PubMed ID: 11781872
    [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 02; 99(2):251-5. PubMed ID: 9048930
    [Abstract] [Full Text] [Related]

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