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191 related items for PubMed ID: 9714439

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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 24; 12(4):269-74. PubMed ID: 14564217
    [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. Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation.
    Okajima K, Robinson LK, Hart MA, Abuelo DN, Cowan LS, Hasegawa T, Maumenee IH, Jabs EW.
    Am J Med Genet; 1999 Jul 16; 85(2):160-70. PubMed ID: 10406670
    [Abstract] [Full Text] [Related]

  • 5. Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
    Oldridge M, Lunt PW, Zackai EH, McDonald-McGinn DM, Muenke M, Moloney DM, Twigg SR, Heath JK, Howard TD, Hoganson G, Gagnon DM, Jabs EW, Wilkie AO.
    Hum Mol Genet; 1997 Jan 16; 6(1):137-43. PubMed ID: 9002682
    [Abstract] [Full Text] [Related]

  • 6. 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 16; 99(5):602-6. PubMed ID: 9150725
    [Abstract] [Full Text] [Related]

  • 7. 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 16; 35(8):677-9. PubMed ID: 9719378
    [Abstract] [Full Text] [Related]

  • 8. Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.
    Schell U, Hehr A, Feldman GJ, Robin NH, Zackai EH, de Die-Smulders C, Viskochil DH, Stewart JM, Wolff G, Ohashi H.
    Hum Mol Genet; 1995 Mar 16; 4(3):323-8. PubMed ID: 7795583
    [Abstract] [Full Text] [Related]

  • 9. Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case.
    Schaefer F, Anderson C, Can B, Say B.
    Am J Med Genet; 1998 Jan 23; 75(3):252-5. PubMed ID: 9475591
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.
    Mathijssen IM, Vaandrager JM, Hoogeboom AJ, Hesseling-Janssen AL, van den Ouweland AM.
    J Craniofac Surg; 1998 May 23; 9(3):207-9. PubMed ID: 9693549
    [Abstract] [Full Text] [Related]

  • 13. Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature.
    Nazzaro A, Della Monica M, Lonardo F, Di Blasi A, Baffico M, Baldi M, Nazzaro G, De Placido G, Scarano G.
    Prenat Diagn; 2004 Nov 23; 24(11):918-22. PubMed ID: 15565658
    [Abstract] [Full Text] [Related]

  • 14. Pfeiffer syndrome.
    Vogels A, Fryns JP.
    Orphanet J Rare Dis; 2006 Jun 01; 1():19. PubMed ID: 16740155
    [Abstract] [Full Text] [Related]

  • 15. Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.
    Cornejo-Roldan LR, Roessler E, Muenke M.
    Hum Genet; 1999 May 01; 104(5):425-31. PubMed ID: 10394936
    [Abstract] [Full Text] [Related]

  • 16. 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 01; 32(2):425-8. PubMed ID: 11556600
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2.
    Tsukuno M, Suzuki H, Eto Y.
    J Craniofac Genet Dev Biol; 1999 Nov 01; 19(4):183-8. PubMed ID: 10731087
    [Abstract] [Full Text] [Related]

  • 19. 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 01; 9(2):173-6. PubMed ID: 7719345
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 12(3):209. PubMed ID: 14564165
    [Abstract] [Full Text] [Related]

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