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Journal Abstract Search

161 related items for PubMed ID: 8522336

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  • 2. 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; 4(8):1387-90. PubMed ID: 7581378
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  • 4. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
    Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S.
    Nat Genet; 1994 Sep; 8(1):98-103. PubMed ID: 7987400
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  • 5. Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.
    Steinberger D, Mulliken JB, Müller U.
    Hum Mutat; 1996 Sep; 8(4):386-90. PubMed ID: 8956050
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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; 14(2):174-6. PubMed ID: 8841188
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  • 11. 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; 9(2):173-6. PubMed ID: 7719345
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  • 14. FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.
    Steinberger D, Reinhartz T, Unsöld R, Müller U.
    Am J Med Genet; 1996 Dec 02; 66(1):81-6. PubMed ID: 8957519
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  • 17. 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 Dec 02; 91(1-4):134-7. PubMed ID: 11173845
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  • 18. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
    Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW.
    Nat Genet; 1995 Dec 02; 11(4):462-4. PubMed ID: 7493034
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