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191 related items for PubMed ID: 21674647

  • 1. Human neural tube defects: genetic causes and prevention.
    De Marco P, Merello E, Cama A, Kibar Z, Capra V.
    Biofactors; 2011; 37(4):261-8. PubMed ID: 21674647
    [Abstract] [Full Text] [Related]

  • 2. Mutations associated with human neural tube defects display disrupted planar cell polarity in Drosophila.
    Humphries AC, Narang S, Mlodzik M.
    Elife; 2020 Apr 01; 9():. PubMed ID: 32234212
    [Abstract] [Full Text] [Related]

  • 3. Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population.
    De Marco P, Merello E, Piatelli G, Cama A, Kibar Z, Capra V.
    Birth Defects Res A Clin Mol Teratol; 2014 Aug 01; 100(8):633-41. PubMed ID: 24838524
    [Abstract] [Full Text] [Related]

  • 4. Expanding the mutational spectrum associated to neural tube defects: literature revision and description of novel VANGL1 mutations.
    Merello E, Mascelli S, Raso A, Piatelli G, Consales A, Cama A, Kibar Z, Capra V, Marco PD.
    Birth Defects Res A Clin Mol Teratol; 2015 Jan 01; 103(1):51-61. PubMed ID: 25208524
    [Abstract] [Full Text] [Related]

  • 5. Contribution of VANGL2 mutations to isolated neural tube defects.
    Kibar Z, Salem S, Bosoi CM, Pauwels E, De Marco P, Merello E, Bassuk AG, Capra V, Gros P.
    Clin Genet; 2011 Jul 01; 80(1):76-82. PubMed ID: 20738329
    [Abstract] [Full Text] [Related]

  • 6. Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway.
    Allache R, Lachance S, Guyot MC, De Marco P, Merello E, Justice MJ, Capra V, Kibar Z.
    Hum Mol Genet; 2014 Apr 01; 23(7):1687-99. PubMed ID: 24203697
    [Abstract] [Full Text] [Related]

  • 7. Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in the mouse neural tube mutant Loop-tail.
    Kibar Z, Vogan KJ, Groulx N, Justice MJ, Underhill DA, Gros P.
    Nat Genet; 2001 Jul 01; 28(3):251-5. PubMed ID: 11431695
    [Abstract] [Full Text] [Related]

  • 8. Independent mutations at Arg181 and Arg274 of Vangl proteins that are associated with neural tube defects in humans decrease protein stability and impair membrane targeting.
    Iliescu A, Gravel M, Horth C, Gros P.
    Biochemistry; 2014 Aug 19; 53(32):5356-64. PubMed ID: 25068569
    [Abstract] [Full Text] [Related]

  • 9. Genetic interaction between members of the Vangl family causes neural tube defects in mice.
    Torban E, Patenaude AM, Leclerc S, Rakowiecki S, Gauthier S, Andelfinger G, Epstein DJ, Gros P.
    Proc Natl Acad Sci U S A; 2008 Mar 04; 105(9):3449-54. PubMed ID: 18296642
    [Abstract] [Full Text] [Related]

  • 10. Independent mutations in mouse Vangl2 that cause neural tube defects in looptail mice impair interaction with members of the Dishevelled family.
    Torban E, Wang HJ, Groulx N, Gros P.
    J Biol Chem; 2004 Dec 10; 279(50):52703-13. PubMed ID: 15456783
    [Abstract] [Full Text] [Related]

  • 11. A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects.
    Juriloff DM, Harris MJ.
    Birth Defects Res A Clin Mol Teratol; 2012 Oct 10; 94(10):824-40. PubMed ID: 23024041
    [Abstract] [Full Text] [Related]

  • 12. Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans.
    Seo JH, Zilber Y, Babayeva S, Liu J, Kyriakopoulos P, De Marco P, Merello E, Capra V, Gros P, Torban E.
    Hum Mol Genet; 2011 Nov 15; 20(22):4324-33. PubMed ID: 21840926
    [Abstract] [Full Text] [Related]

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  • 15. Toward understanding the genetic basis of neural tube defects.
    Kibar Z, Capra V, Gros P.
    Clin Genet; 2007 Apr 15; 71(4):295-310. PubMed ID: 17470131
    [Abstract] [Full Text] [Related]

  • 16. Wnt/planar cell polarity signaling controls morphogenetic movements of gastrulation and neural tube closure.
    Shi DL.
    Cell Mol Life Sci; 2022 Nov 12; 79(12):586. PubMed ID: 36369349
    [Abstract] [Full Text] [Related]

  • 17. Roles of planar cell polarity pathways in the development of neural [correction of neutral] tube defects.
    Wu G, Huang X, Hua Y, Mu D.
    J Biomed Sci; 2011 Aug 24; 18(1):66. PubMed ID: 21864354
    [Abstract] [Full Text] [Related]

  • 18. Genetic evidence in planar cell polarity signaling pathway in human neural tube defects.
    Cai C, Shi O.
    Front Med; 2014 Mar 24; 8(1):68-78. PubMed ID: 24307374
    [Abstract] [Full Text] [Related]

  • 19. Mutations in the COPII vesicle component gene SEC24B are associated with human neural tube defects.
    Yang XY, Zhou XY, Wang QQ, Li H, Chen Y, Lei YP, Ma XH, Kong P, Shi Y, Jin L, Zhang T, Wang HY.
    Hum Mutat; 2013 Aug 24; 34(8):1094-101. PubMed ID: 23592378
    [Abstract] [Full Text] [Related]

  • 20. Genetic analysis of disheveled 2 and disheveled 3 in human neural tube defects.
    De Marco P, Merello E, Consales A, Piatelli G, Cama A, Kibar Z, Capra V.
    J Mol Neurosci; 2013 Mar 24; 49(3):582-8. PubMed ID: 22892949
    [Abstract] [Full Text] [Related]

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