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Journal Abstract Search

273 related items for PubMed ID: 11274405

  • 1. A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes.
    Hajihosseini MK, Wilson S, De Moerlooze L, Dickson C.
    Proc Natl Acad Sci U S A; 2001 Mar 27; 98(7):3855-60. PubMed ID: 11274405
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  • 8. Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2.
    Teebi AS, Kennedy S, Chun K, Ray PN.
    Am J Med Genet; 2002 Jan 01; 107(1):43-7. PubMed ID: 11807866
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  • 9. A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis.
    Yin L, Du X, Li C, Xu X, Chen Z, Su N, Zhao L, Qi H, Li F, Xue J, Yang J, Jin M, Deng C, Chen L.
    Bone; 2008 Apr 01; 42(4):631-43. PubMed ID: 18242159
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  • 13. [Nucleotide sequences at intron 6 and exon 7 junction of fibroblast growth factor receptor 2 and rapid mutational analysis in Apert syndrome].
    Wada C, Ishigaki M, Toyo-oka Y, Yamabe H, Ohnuki Y, Takada F, Yamazaki Y, Ohtani H.
    Rinsho Byori; 1996 May 01; 44(5):435-8. PubMed ID: 8676562
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  • 15. 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
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  • 18. 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 01; 14(3):289-98. PubMed ID: 16418739
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  • 19. 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 01; 14(2):174-6. PubMed ID: 8841188
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