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Journal Abstract Search

310 related items for PubMed ID: 11711827

  • 41.
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  • 42. 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; 66(3):768-77. PubMed ID: 10712195
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  • 43. Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings.
    Agochukwu NB, Solomon BD, Muenke M.
    Int J Pediatr Otorhinolaryngol; 2014 Dec; 78(12):2037-47. PubMed ID: 25441602
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  • 44.
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  • 45. 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; 99(5):602-6. PubMed ID: 9150725
    [Abstract] [Full Text] [Related]

  • 46. Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients.
    Tsai FJ, Yang CF, Wu JY, Tsai CH, Lee CC.
    Pediatr Int; 2001 Jun; 43(3):263-6. PubMed ID: 11380921
    [Abstract] [Full Text] [Related]

  • 47. 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; 35(4):977-9. PubMed ID: 15916101
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  • 48.
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  • 49. Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.
    Anderson J, Burns HD, Enriquez-Harris P, Wilkie AO, Heath JK.
    Hum Mol Genet; 1998 Sep; 7(9):1475-83. PubMed ID: 9700203
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  • 50.
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  • 51. Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children.
    Nagase T, Nagase M, Hirose S, Ohmori K.
    J Craniofac Surg; 1998 Mar; 9(2):162-70. PubMed ID: 9586546
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  • 52.
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  • 53. Signaling by fibroblast growth factors (FGF) and fibroblast growth factor receptor 2 (FGFR2)-activating mutations blocks mineralization and induces apoptosis in osteoblasts.
    Mansukhani A, Bellosta P, Sahni M, Basilico C.
    J Cell Biol; 2000 Jun 12; 149(6):1297-308. PubMed ID: 10851026
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  • 56. Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4.
    Gaudenz K, Roessler E, Vainikka S, Alitalo K, Muenke M.
    Mol Genet Metab; 1998 May 12; 64(1):76-9. PubMed ID: 9682222
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  • 57. The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.
    Steinberger D, Vriend G, Mulliken JB, Müller U.
    Hum Genet; 1998 Feb 12; 102(2):145-50. PubMed ID: 9521581
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  • 60.
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