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PUBMED FOR HANDHELDS

Journal Abstract Search

316 related items for PubMed ID: 12709790

  • 1. 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
    [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. 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
    [Abstract] [Full Text] [Related]

  • 4. 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; 110(4):297-301. PubMed ID: 11941477
    [Abstract] [Full Text] [Related]

  • 5. Holoprosencephaly: from Homer to Hedgehog.
    Ming JE, Muenke M.
    Clin Genet; 1998 Mar; 53(3):155-63. PubMed ID: 9630065
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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 08; 163(7):347-52. PubMed ID: 15107988
    [Abstract] [Full Text] [Related]

  • 8. Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway.
    Taniguchi K, Anderson AE, Sutherland AE, Wotton D.
    PLoS Genet; 2012 Jul 08; 8(2):e1002524. PubMed ID: 22383895
    [Abstract] [Full Text] [Related]

  • 9. Sonic hedgehog mutations identified in holoprosencephaly patients can act in a dominant negative manner.
    Singh S, Tokhunts R, Baubet V, Goetz JA, Huang ZJ, Schilling NS, Black KE, MacKenzie TA, Dahmane N, Robbins DJ.
    Hum Genet; 2009 Feb 08; 125(1):95-103. PubMed ID: 19057928
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. Mouse models of holoprosencephaly.
    Hayhurst M, McConnell SK.
    Curr Opin Neurol; 2003 Apr 08; 16(2):135-41. PubMed ID: 12644739
    [Abstract] [Full Text] [Related]

  • 12. Mutations in holoprosencephaly.
    Wallis D, Muenke M.
    Hum Mutat; 2000 Apr 08; 16(2):99-108. PubMed ID: 10923031
    [Abstract] [Full Text] [Related]

  • 13. Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
    Solomon BD, Bear KA, Wyllie A, Keaton AA, Dubourg C, David V, Mercier S, Odent S, Hehr U, Paulussen A, Clegg NJ, Delgado MR, Bale SJ, Lacbawan F, Ardinger HH, Aylsworth AS, Bhengu NL, Braddock S, Brookhyser K, Burton B, Gaspar H, Grix A, Horovitz D, Kanetzke E, Kayserili H, Lev D, Nikkel SM, Norton M, Roberts R, Saal H, Schaefer GB, Schneider A, Smith EK, Sowry E, Spence MA, Shalev SA, Steiner CE, Thompson EM, Winder TL, Balog JZ, Hadley DW, Zhou N, Pineda-Alvarez DE, Roessler E, Muenke M.
    J Med Genet; 2012 Jul 08; 49(7):473-9. PubMed ID: 22791840
    [Abstract] [Full Text] [Related]

  • 14. Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly.
    Bertolacini CD, Richieri-Costa A, Ribeiro-Bicudo LA.
    Brain Dev; 2010 Mar 08; 32(3):217-22. PubMed ID: 19398181
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers.
    Jeong Y, El-Jaick K, Roessler E, Muenke M, Epstein DJ.
    Development; 2006 Feb 22; 133(4):761-72. PubMed ID: 16407397
    [Abstract] [Full Text] [Related]

  • 17. Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly.
    Heussler HS, Suri M, Young ID, Muenke M.
    Arch Dis Child; 2002 Apr 22; 86(4):293-6. PubMed ID: 11919111
    [Abstract] [Full Text] [Related]

  • 18. 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 22; 14(3):357-60. PubMed ID: 8896572
    [Abstract] [Full Text] [Related]

  • 19. Rescue of holoprosencephaly in fetal alcohol-exposed Cdon mutant mice by reduced gene dosage of Ptch1.
    Hong M, Krauss RS.
    PLoS One; 2013 Nov 22; 8(11):e79269. PubMed ID: 24244464
    [Abstract] [Full Text] [Related]

  • 20. 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 Nov 22; 8(10):e1002927. PubMed ID: 23055936
    [Abstract] [Full Text] [Related]

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