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Journal Abstract Search

356 related items for PubMed ID: 15314685

  • 1. Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes.
    Cordero D, Marcucio R, Hu D, Gaffield W, Tapadia M, Helms JA.
    J Clin Invest; 2004 Aug; 114(4):485-94. PubMed ID: 15314685
    [Abstract] [Full Text] [Related]

  • 2. Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.
    Odent S, Atti-Bitach T, Blayau M, Mathieu M, Aug J, Delezo de AL, Gall JY, Le Marec B, Munnich A, David V, Vekemans M.
    Hum Mol Genet; 1999 Sep; 8(9):1683-9. PubMed ID: 10441331
    [Abstract] [Full Text] [Related]

  • 3. Mutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defects.
    Dennis JF, Kurosaka H, Iulianella A, Pace J, Thomas N, Beckham S, Williams T, Trainor PA.
    PLoS Genet; 2012 Sep; 8(10):e1002927. PubMed ID: 23055936
    [Abstract] [Full Text] [Related]

  • 4. Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation.
    Hehr U, Gross C, Diebold U, Wahl D, Beudt U, Heidemann P, Hehr A, Mueller D.
    Eur J Pediatr; 2004 Jul; 163(7):347-52. PubMed ID: 15107988
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  • 5. 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; 113(2):170-7. PubMed ID: 12709790
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  • 8. 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; 8(13):2479-88. PubMed ID: 10556296
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  • 10. NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos.
    Mercier S, David V, Ratié L, Gicquel I, Odent S, Dupé V.
    Dis Model Mech; 2013 Mar; 6(2):537-43. PubMed ID: 23264560
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  • 11. The teratogenic Veratrum alkaloid cyclopamine inhibits sonic hedgehog signal transduction.
    Incardona JP, Gaffield W, Kapur RP, Roelink H.
    Development; 1998 Sep; 125(18):3553-62. PubMed ID: 9716521
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  • 12. Cdon mutation and fetal ethanol exposure synergize to produce midline signaling defects and holoprosencephaly spectrum disorders in mice.
    Hong M, Krauss RS.
    PLoS Genet; 2012 Sep; 8(10):e1002999. PubMed ID: 23071453
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  • 13. Gli2 gene-environment interactions contribute to the etiological complexity of holoprosencephaly: evidence from a mouse model.
    Heyne GW, Everson JL, Ansen-Wilson LJ, Melberg CG, Fink DM, Parins KF, Doroodchi P, Ulschmid CM, Lipinski RJ.
    Dis Model Mech; 2016 Nov 01; 9(11):1307-1315. PubMed ID: 27585885
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  • 14. 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 01; 110(4):297-301. PubMed ID: 11941477
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  • 15. Ectopic sonic hedgehog signaling impairs telencephalic dorsal midline development: implication for human holoprosencephaly.
    Huang X, Litingtung Y, Chiang C.
    Hum Mol Genet; 2007 Jun 15; 16(12):1454-68. PubMed ID: 17468181
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  • 16. The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis.
    Hu D, Helms JA.
    Development; 1999 Nov 15; 126(21):4873-84. PubMed ID: 10518503
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  • 17. Rescue of holoprosencephaly in fetal alcohol-exposed Cdon mutant mice by reduced gene dosage of Ptch1.
    Hong M, Krauss RS.
    PLoS One; 2013 Nov 15; 8(11):e79269. PubMed ID: 24244464
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  • 19. Craniofacial anomalies of the cultured mouse embryo induced by inhibition of sonic hedgehog signaling: an animal model of holoprosencephaly.
    Nagase T, Nagase M, Osumi N, Fukuda S, Nakamura S, Ohsaki K, Harii K, Asato H, Yoshimura K.
    J Craniofac Surg; 2005 Jan 15; 16(1):80-8. PubMed ID: 15699650
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  • 20. Holoprosencephaly: from Homer to Hedgehog.
    Ming JE, Muenke M.
    Clin Genet; 1998 Mar 15; 53(3):155-63. PubMed ID: 9630065
    [Abstract] [Full Text] [Related]

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