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Journal Abstract Search


340 related items for PubMed ID: 7581378

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  • 5. 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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  • 6. 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 07; 9(2):173-6. PubMed ID: 7719345
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  • 7. 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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  • 10. Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
    Kan SH, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SR, Rannan-Eliya S, McDonald-McGinn DM, Zackai EH, Wall SA, Muenke M, Wilkie AO.
    Am J Hum Genet; 2002 Feb 10; 70(2):472-86. PubMed ID: 11781872
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  • 11. Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
    Oldridge M, Wilkie AO, Slaney SF, Poole MD, Pulleyn LJ, Rutland P, Hockley AD, Wake MJ, Goldin JH, Winter RM.
    Hum Mol Genet; 1995 Jun 10; 4(6):1077-82. PubMed ID: 7655462
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  • 13. No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis.
    Ma HW, Lajeunie E, Le Merrer M, de Parseval N, Serville F, Weissenbach J, Munnich A, Renier D.
    Hum Genet; 1995 Dec 10; 96(6):731-5. PubMed ID: 8522336
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  • 14. 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 10; 99(5):602-6. PubMed ID: 9150725
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  • 15. Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
    Kress W, Collmann H, Büsse M, Halliger-Keller B, Mueller CR.
    Cytogenet Cell Genet; 2000 May 10; 91(1-4):134-7. PubMed ID: 11173845
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  • 19. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
    Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P.
    Nat Genet; 1995 Feb 10; 9(2):165-72. PubMed ID: 7719344
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