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Journal Abstract Search

460 related items for PubMed ID: 17552943

  • 1. Syndromic craniosynostosis: from history to hydrogen bonds.
    Cunningham ML, Seto ML, Ratisoontorn C, Heike CL, Hing AV.
    Orthod Craniofac Res; 2007 May; 10(2):67-81. PubMed ID: 17552943
    [Abstract] [Full Text] [Related]

  • 2. 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; 163C(4):259-70. PubMed ID: 24127277
    [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. Clinical and genetic characteristics of craniosynostosis in Hungary.
    Bessenyei B, Nagy A, Szakszon K, Mokánszki A, Balogh E, Ujfalusi A, Tihanyi M, Novák L, Bognár L, Oláh É.
    Am J Med Genet A; 2015 Dec 07; 167A(12):2985-91. PubMed ID: 26289989
    [Abstract] [Full Text] [Related]

  • 5. 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 07; 50(5):482-90. PubMed ID: 24656465
    [Abstract] [Full Text] [Related]

  • 6. 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 07; 70(2):472-86. PubMed ID: 11781872
    [Abstract] [Full Text] [Related]

  • 7. Molecular and cellular bases of syndromic craniosynostoses.
    Bonaventure J, El Ghouzzi V.
    Expert Rev Mol Med; 2003 Jan 29; 5(4):1-17. PubMed ID: 14987407
    [Abstract] [Full Text] [Related]

  • 8. Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis.
    Ibarra-Arce A, Almaraz-Salinas M, Martínez-Rosas V, Ortiz de Zárate-Alarcón G, Flores-Peña L, Romero-Valdovinos M, Olivo-Díaz A.
    Mol Genet Genomic Med; 2020 Aug 29; 8(8):e1266. PubMed ID: 32510873
    [Abstract] [Full Text] [Related]

  • 9. Craniosynostosis and related limb anomalies.
    Wilkie AO, Oldridge M, Tang Z, Maxson RE.
    Novartis Found Symp; 2001 Aug 29; 232():122-33; discussion 133-43. PubMed ID: 11277076
    [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 29; 101(1):47-50. PubMed ID: 9385368
    [Abstract] [Full Text] [Related]

  • 11. Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings.
    Agochukwu NB, Solomon BD, Muenke M.
    Int J Pediatr Otorhinolaryngol; 2014 Dec 29; 78(12):2037-47. PubMed ID: 25441602
    [Abstract] [Full Text] [Related]

  • 12. Molecular Mechanisms Involved in Craniosynostosis.
    Yapijakis C, Pachis N, Sotiriadou T, Vaila C, Michopoulou V, Vassiliou S.
    In Vivo; 2023 Dec 29; 37(1):36-46. PubMed ID: 36593018
    [Abstract] [Full Text] [Related]

  • 13. Molecular genetics of craniosynostotic syndromes.
    Müller U, Steinberger D, Kunze S.
    Graefes Arch Clin Exp Ophthalmol; 1997 Sep 29; 235(9):545-50. PubMed ID: 9342602
    [Abstract] [Full Text] [Related]

  • 14. [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]

  • 15. 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]

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

  • 17. Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis.
    Anderson PJ, Cox TC, Roscioli T, Elakis G, Smithers L, David DJ, Powell B.
    J Craniofac Surg; 2007 Mar 12; 18(2):312-4. PubMed ID: 17414280
    [Abstract] [Full Text] [Related]

  • 18. [The molecular genetic background of hereditary craniosynostoses and chondrodysplasias].
    Hertz JM, Juncker I, Christensen L, Østergaard JR, Jensen PK.
    Ugeskr Laeger; 2001 Sep 03; 163(36):4862-7. PubMed ID: 11571861
    [Abstract] [Full Text] [Related]

  • 19. Syndromic Craniosynostosis.
    Wang JC, Nagy L, Demke JC.
    Facial Plast Surg Clin North Am; 2016 Nov 03; 24(4):531-543. PubMed ID: 27712819
    [Abstract] [Full Text] [Related]

  • 20. 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 03; 14(2):174-6. PubMed ID: 8841188
    [Abstract] [Full Text] [Related]

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