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Journal Abstract Search

254 related items for PubMed ID: 16282375

  • 1. Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly.
    Maity T, Fuse N, Beachy PA.
    Proc Natl Acad Sci U S A; 2005 Nov 22; 102(47):17026-31. PubMed ID: 16282375
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  • 2. Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.
    Traiffort E, Dubourg C, Faure H, Rognan D, Odent S, Durou MR, David V, Ruat M.
    J Biol Chem; 2004 Oct 08; 279(41):42889-97. PubMed ID: 15292211
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  • 3. Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly.
    Roessler E, Belloni E, Gaudenz K, Vargas F, Scherer SW, Tsui LC, Muenke M.
    Hum Mol Genet; 1997 Oct 08; 6(11):1847-53. PubMed ID: 9302262
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  • 6. SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.
    Schell-Apacik C, Rivero M, Knepper JL, Roessler E, Muenke M, Ming JE.
    Hum Genet; 2003 Jul 08; 113(2):170-7. PubMed ID: 12709790
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  • 8. Mouse models of holoprosencephaly.
    Hayhurst M, McConnell SK.
    Curr Opin Neurol; 2003 Apr 08; 16(2):135-41. PubMed ID: 12644739
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  • 10. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
    Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui LC, Muenke M.
    Nat Genet; 1996 Nov 08; 14(3):357-60. PubMed ID: 8896572
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  • 13. The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
    Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, Die-Smulders C, Giannotti A, Imaizumi K, Jones KL, Campo MD, Martin RA, Meinecke P, Pierpont ME, Robin NH, Young ID, Roessler E, Muenke M.
    Hum Mol Genet; 1999 Dec 08; 8(13):2479-88. PubMed ID: 10556296
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  • 20. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
    Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M.
    Hum Genet; 2002 Apr 08; 110(4):297-301. PubMed ID: 11941477
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