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Journal Abstract Search

166 related items for PubMed ID: 14564217

  • 1. The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation.
    Rossi M, Jones RL, Norbury G, Bloch-Zupan A, Winter RM.
    Clin Dysmorphol; 2003 Oct; 12(4):269-74. PubMed ID: 14564217
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  • 2. Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.
    Gripp KW, Stolle CA, McDonald-McGinn DM, Markowitz RI, Bartlett SP, Katowitz JA, Muenke M, Zackai EH.
    Am J Med Genet; 1998 Jul 24; 78(4):356-60. PubMed ID: 9714439
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  • 3. A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene.
    Shotelersuk V, Srivuthana S, Ittiwut C, Theamboonlers A, Mahatumarat C, Poovorawan Y.
    Southeast Asian J Trop Med Public Health; 2001 Jun 24; 32(2):425-8. PubMed ID: 11556600
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  • 4. FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report.
    Hackett A, Rowe L.
    Clin Dysmorphol; 2006 Oct 24; 15(4):207-210. PubMed ID: 16957473
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  • 5. Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
    Passos-Bueno MR, Richieri-Costa A, Sertié AL, Kneppers A.
    J Med Genet; 1998 Aug 24; 35(8):677-9. PubMed ID: 9719378
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  • 7. Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.
    Tartaglia M, Valeri S, Velardi F, Di Rocco C, Battaglia PA.
    Hum Genet; 1997 May 24; 99(5):602-6. PubMed ID: 9150725
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  • 8. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.
    Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF.
    Nat Genet; 1995 Feb 24; 9(2):173-6. PubMed ID: 7719345
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  • 9. 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 24; 101(1):47-50. PubMed ID: 9385368
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  • 10. 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 24; 14(2):174-6. PubMed ID: 8841188
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  • 11. Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.
    Cornejo-Roldan LR, Roessler E, Muenke M.
    Hum Genet; 1999 May 24; 104(5):425-31. PubMed ID: 10394936
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  • 15. FGFR1 and FGFR2 mutations in Pfeiffer syndrome.
    Chokdeemboon C, Mahatumarat C, Rojvachiranonda N, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V.
    J Craniofac Surg; 2013 Jan 24; 24(1):150-2. PubMed ID: 23348274
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  • 16. Pfeiffer syndrome type 2: further delineation and review of the literature.
    Plomp AS, Hamel BC, Cobben JM, Verloes A, Offermans JP, Lajeunie E, Fryns JP, de Die-Smulders CE.
    Am J Med Genet; 1998 Jan 23; 75(3):245-51. PubMed ID: 9475590
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