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Journal Abstract Search

168 related items for PubMed ID: 9521581

  • 1. 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; 102(2):145-50. PubMed ID: 9521581
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  • 4. Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain.
    Robertson SC, Meyer AN, Hart KC, Galvin BD, Webster MK, Donoghue DJ.
    Proc Natl Acad Sci U S A; 1998 Apr 14; 95(8):4567-72. PubMed ID: 9539778
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  • 7. Re: Sequence analysis of fibroblast growth factor receptor 2 (FGFR2) in Japanese patients with craniosynostosis. Sakai et al. J Craniofac. Surg. 2001, 12: 580-585.
    Warren SM, Longaker MT.
    J Craniofac Surg; 2002 Jul 14; 13(4):597-9. PubMed ID: 12140430
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  • 8. 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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  • 10. Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.
    Gorry MC, Preston RA, White GJ, Zhang Y, Singhal VK, Losken HW, Parker MG, Nwokoro NA, Post JC, Ehrlich GD.
    Hum Mol Genet; 1995 Aug 07; 4(8):1387-90. PubMed ID: 7581378
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  • 13. 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 07; 6(1):137-43. PubMed ID: 9002682
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  • 15. 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 07; 14(2):174-6. PubMed ID: 8841188
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  • 17. Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras.
    Galvin BD, Hart KC, Meyer AN, Webster MK, Donoghue DJ.
    Proc Natl Acad Sci U S A; 1996 Jul 23; 93(15):7894-9. PubMed ID: 8755573
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  • 18. 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
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  • 19. Genomic organization of the human fibroblast growth factor receptor 2 (FGFR2) gene and comparative analysis of the human FGFR gene family.
    Zhang Y, Gorry MC, Post JC, Ehrlich GD.
    Gene; 1999 Apr 01; 230(1):69-79. PubMed ID: 10196476
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  • 20. Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
    Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, Hall BD, Stevenson R, Orlow S, Cohen MM, Jabs EW.
    Nat Genet; 1996 Aug 01; 13(4):492-4. PubMed ID: 8696350
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