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226 related items for PubMed ID: 15241680

  • 1. Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.
    Rannan-Eliya SV, Taylor IB, De Heer IM, Van Den Ouweland AM, Wall SA, Wilkie AO.
    Hum Genet; 2004 Aug; 115(3):200-7. PubMed ID: 15241680
    [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. Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.
    Graham JM, Braddock SR, Mortier GR, Lachman R, Van Dop C, Jabs EW.
    Am J Med Genet; 1998 May 26; 77(4):322-9. PubMed ID: 9600744
    [Abstract] [Full Text] [Related]

  • 4. Molecular diagnosis of bilateral coronal synostosis.
    Mulliken JB, Steinberger D, Kunze S, Müller U.
    Plast Reconstr Surg; 1999 Nov 26; 104(6):1603-15. PubMed ID: 10541159
    [Abstract] [Full Text] [Related]

  • 5. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.
    Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall SA, Wilkie AO, Jabs EW.
    Am J Hum Genet; 2000 Mar 26; 66(3):768-77. PubMed ID: 10712195
    [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 26; 70(2):472-86. PubMed ID: 11781872
    [Abstract] [Full Text] [Related]

  • 7. 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 26; 14(2):174-6. PubMed ID: 8841188
    [Abstract] [Full Text] [Related]

  • 8. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans.
    Vajo Z, Francomano CA, Wilkin DJ.
    Endocr Rev; 2000 Feb 26; 21(1):23-39. PubMed ID: 10696568
    [Abstract] [Full Text] [Related]

  • 9. A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature.
    Aravidis C, Konialis CP, Pangalos CG, Kosmaidou Z.
    J Matern Fetal Neonatal Med; 2014 Sep 26; 27(14):1502-6. PubMed ID: 24168007
    [Abstract] [Full Text] [Related]

  • 10. [Typical features of craniofacial growth of the FGFR3-associated coronal synostosis syndrome (so-called Muenke craniosynostosis)].
    Reinhart E, Eulert S, Bill J, Würzler K, Phan The L, Reuther J.
    Mund Kiefer Gesichtschir; 2003 May 26; 7(3):132-7. PubMed ID: 12764678
    [Abstract] [Full Text] [Related]

  • 11. Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: a preliminary report.
    Cassileth LB, Bartlett SP, Glat PM, Gripp KW, Muenke M, Zackai EH, Whitaker LA.
    Plast Reconstr Surg; 2001 Dec 26; 108(7):1849-54. PubMed ID: 11743367
    [Abstract] [Full Text] [Related]

  • 12. 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 26; 11(4):462-4. PubMed ID: 7493034
    [Abstract] [Full Text] [Related]

  • 13. Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis.
    Moloney DM, Wall SA, Ashworth GJ, Oldridge M, Glass IA, Francomano CA, Muenke M, Wilkie AO.
    Lancet; 1997 Apr 12; 349(9058):1059-62. PubMed ID: 9107244
    [Abstract] [Full Text] [Related]

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

  • 15. Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
    Reardon W, Wilkes D, Rutland P, Pulleyn LJ, Malcolm S, Dean JC, Evans RD, Jones BM, Hayward R, Hall CM, Nevin NC, Baraister M, Winter RM.
    J Med Genet; 1997 Aug 12; 34(8):632-6. PubMed ID: 9279753
    [Abstract] [Full Text] [Related]

  • 16. [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]

  • 17. Exclusive paternal origin of new mutations in Apert syndrome.
    Moloney DM, Slaney SF, Oldridge M, Wall SA, Sahlin P, Stenman G, Wilkie AO.
    Nat Genet; 1996 May 03; 13(1):48-53. PubMed ID: 8673103
    [Abstract] [Full Text] [Related]

  • 18. Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.
    Goriely A, Lord H, Lim J, Johnson D, Lester T, Firth HV, Wilkie AO.
    Am J Med Genet A; 2010 Aug 03; 152A(8):2067-73. PubMed ID: 20635358
    [Abstract] [Full Text] [Related]

  • 19. Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers.
    Jang JH, Shin KH, Park JG.
    Cancer Res; 2001 May 01; 61(9):3541-3. PubMed ID: 11325814
    [Abstract] [Full Text] [Related]

  • 20. Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis).
    Mulliken JB, Gripp KW, Stolle CA, Steinberger D, Müller U.
    Plast Reconstr Surg; 2004 Jun 01; 113(7):1899-909. PubMed ID: 15253176
    [Abstract] [Full Text] [Related]

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