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Journal Abstract Search

360 related items for PubMed ID: 29230096

  • 1. Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.
    Azoury SC, Reddy S, Shukla V, Deng CX.
    Int J Biol Sci; 2017; 13(12):1479-1488. PubMed ID: 29230096
    [Abstract] [Full Text] [Related]

  • 2. 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; 50(5):482-90. PubMed ID: 24656465
    [Abstract] [Full Text] [Related]

  • 3. 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; 101(1):47-50. PubMed ID: 9385368
    [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; 167A(12):2985-91. PubMed ID: 26289989
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
    Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, Hall BD, Stevenson R, Orlow S, Cohen MM, Jabs EW.
    Nat Genet; 1996 Aug 07; 13(4):492-4. PubMed ID: 8696350
    [Abstract] [Full Text] [Related]

  • 7. Molecular Mechanisms Involved in Craniosynostosis.
    Yapijakis C, Pachis N, Sotiriadou T, Vaila C, Michopoulou V, Vassiliou S.
    In Vivo; 2023 Aug 07; 37(1):36-46. PubMed ID: 36593018
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts.
    Ang BU, Spivak RM, Nah HD, Kirschner RE.
    J Craniofac Surg; 2010 Mar 29; 21(2):462-7. PubMed ID: 20489451
    [Abstract] [Full Text] [Related]

  • 10. Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.
    Stenirri S, Restagno G, Ferrero GB, Alaimo G, Sbaiz L, Mari C, Genitori L, Maurizio F, Cremonesi L.
    Clin Chem; 2007 Oct 29; 53(10):1767-74. PubMed ID: 17693524
    [Abstract] [Full Text] [Related]

  • 11. Syndromic craniosynostosis, fibroblast growth factor receptor 2 (FGFR2) mutations, and sacrococcygeal eversion presenting as human tails.
    Wilkinson CC, Manchester DK, Keating RF, Ketch LL, Winston KR.
    Childs Nerv Syst; 2012 Aug 29; 28(8):1221-6. PubMed ID: 22661218
    [Abstract] [Full Text] [Related]

  • 12. Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve.
    Wenger TL, Bhoj EJ, Wetmore RF, Mennuti MT, Bartlett SP, Mollen TJ, McDonald-McGinn DM, Zackai EH.
    Am J Med Genet A; 2015 Apr 29; 167A(4):852-7. PubMed ID: 25706251
    [Abstract] [Full Text] [Related]

  • 13. 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 29; 14(3):289-98. PubMed ID: 16418739
    [Abstract] [Full Text] [Related]

  • 14. 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 29; 58(3):491-8. PubMed ID: 8644708
    [Abstract] [Full Text] [Related]

  • 15. p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice.
    Wang Y, Zhou X, Oberoi K, Phelps R, Couwenhoven R, Sun M, Rezza A, Holmes G, Percival CJ, Friedenthal J, Krejci P, Richtsmeier JT, Huso DL, Rendl M, Jabs EW.
    J Clin Invest; 2012 Jun 29; 122(6):2153-64. PubMed ID: 22585574
    [Abstract] [Full Text] [Related]

  • 16. Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.
    Piccione M, Antona V, Niceta M, Fabiano C, Martines M, Bianchi A, Corsello G.
    Eur J Pediatr; 2009 Sep 29; 168(9):1135-9. PubMed ID: 19066959
    [Abstract] [Full Text] [Related]

  • 17. Early mandibular morphological differences in patients with FGFR2 and FGFR3-related syndromic craniosynostoses: A 3D comparative study.
    Morice A, Cornette R, Giudice A, Collet C, Paternoster G, Arnaud É, Galliani E, Picard A, Legeai-Mallet L, Khonsari RH.
    Bone; 2020 Dec 29; 141():115600. PubMed ID: 32822871
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. Roles of FGFR2 and twist in human craniosynostosis: insights from genetic mutations in cranial osteoblasts.
    Marie PJ, Kaabeche K, Guenou H.
    Front Oral Biol; 2008 Sep 29; 12():144-159. PubMed ID: 18391499
    [Abstract] [Full Text] [Related]

  • 20. Genetic Syndromes Associated with Craniosynostosis.
    Ko JM.
    J Korean Neurosurg Soc; 2016 May 29; 59(3):187-91. PubMed ID: 27226847
    [Abstract] [Full Text] [Related]

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