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Journal Abstract Search

182 related items for PubMed ID: 22661218

  • 1. 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; 28(8):1221-6. PubMed ID: 22661218
    [Abstract] [Full Text] [Related]

  • 2. Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion.
    Oliveira NA, Alonso LG, Fanganiello RD, Passos-Bueno MR.
    Birth Defects Res A Clin Mol Teratol; 2006 Aug; 76(8):629-33. PubMed ID: 16955501
    [Abstract] [Full Text] [Related]

  • 3. Proposed caudal appendage classification system; spinal cord tethering associated with sacrococcygeal eversion.
    Wilkinson CC, Boylan AJ.
    Childs Nerv Syst; 2017 Jan; 33(1):69-89. PubMed ID: 27497702
    [Abstract] [Full Text] [Related]

  • 4. Craniosynostosis with tracheal sleeve: a patient with Pfeiffer syndrome, tracheal sleeve and additional malformations in whom an FGFR2 mutation was found.
    Zackai EH, McDonald-McGinn DM, Stolle C, Huff DS.
    Clin Dysmorphol; 2003 Jul; 12(3):209. PubMed ID: 14564165
    [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; 50(5):482-90. PubMed ID: 24656465
    [Abstract] [Full Text] [Related]

  • 6. Fibroblast growth factor receptor 2 and its role in caudal appendage and craniosynostosis.
    Sureka D, Hudgins L.
    J Craniofac Surg; 2010 Sep; 21(5):1346-9. PubMed ID: 20856019
    [Abstract] [Full Text] [Related]

  • 7. Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan.
    Koga H, Suga N, Nakamoto T, Tanaka K, Takahashi N.
    Am J Med Genet A; 2012 Oct; 158A(10):2506-10. PubMed ID: 22965899
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. 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]

  • 10. [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]

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

  • 12. 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 12; 14(3):289-98. PubMed ID: 16418739
    [Abstract] [Full Text] [Related]

  • 13. 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 12; 21(2):462-7. PubMed ID: 20489451
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. 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 07; 167A(4):852-7. PubMed ID: 25706251
    [Abstract] [Full Text] [Related]

  • 16. Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.
    Agochukwu NB, Solomon BD, Muenke M.
    Childs Nerv Syst; 2012 Sep 07; 28(9):1447-63. PubMed ID: 22872262
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia.
    Chen CP, Lin SP, Liu YP, Chern SR, Chen SW, Lai ST, Wang W.
    Taiwan J Obstet Gynecol; 2017 Jun 07; 56(3):412-414. PubMed ID: 28600064
    [No Abstract] [Full Text] [Related]

  • 19. Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.
    Fonseca R, Costa-Lima MA, Cosentino V, Orioli IM.
    Am J Med Genet A; 2008 Mar 01; 146A(5):658-60. PubMed ID: 18247426
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 101(1):47-50. PubMed ID: 9385368
    [Abstract] [Full Text] [Related]

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