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PUBMED FOR HANDHELDS

Journal Abstract Search


162 related items for PubMed ID: 15286168

  • 1. Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G).
    Kan R, Twigg SR, Berg J, Wang L, Jin F, Wilkie AO.
    J Med Genet; 2004 Aug; 41(8):e108. PubMed ID: 15286168
    [No 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
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  • 3. A Crouzon syndrome synonymous mutation activates a 5' splice site within the IIIc exon of the FGFR2 gene.
    Del Gatto F, Breathnach R.
    Genomics; 1995 Jun 10; 27(3):558-9. PubMed ID: 7558045
    [No Abstract] [Full Text] [Related]

  • 4. Lumpers, splitters, and FGFRs.
    Winter RM, Reardon W.
    Am J Med Genet; 1996 Jun 14; 63(3):501-2. PubMed ID: 8737660
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  • 9. 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 14; 14(2):174-6. PubMed ID: 8841188
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  • 10. 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 14; 12(3):209. PubMed ID: 14564165
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  • 12. A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
    de Ravel TJ, Taylor IB, Van Oostveldt AJ, Fryns JP, Wilkie AO.
    Eur J Hum Genet; 2005 Apr 14; 13(4):503-5. PubMed ID: 15523492
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  • 14. Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.
    McGillivray G, Savarirayan R, Cox TC, Stojkoski C, McNeil R, Bankier A, Bateman JF, Roscioli T, Gardner RJ, Lamandé SR.
    J Med Genet; 2005 Aug 14; 42(8):656-62. PubMed ID: 16061565
    [No Abstract] [Full Text] [Related]

  • 15. Prenatal exclusion of Crouzon syndrome by mutation analysis of FGFR2.
    Phupong V, Srichomthong C, Shotelersuk V.
    Southeast Asian J Trop Med Public Health; 2004 Dec 14; 35(4):977-9. PubMed ID: 15916101
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  • 18. 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 Dec 14; 91(1-4):134-7. PubMed ID: 11173845
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  • 19. Patient described by Chun et al. may not present Antley-Bixler syndrome.
    Gorlin RJ.
    Am J Med Genet; 1999 Mar 05; 83(1):64. PubMed ID: 10076886
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  • 20. 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 05; 9(2):165-72. PubMed ID: 7719344
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