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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

195 related items for PubMed ID: 21976454

  • 1.
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  • 2. New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.
    Mercier S, Dubourg C, Garcelon N, Campillo-Gimenez B, Gicquel I, Belleguic M, Ratié L, Pasquier L, Loget P, Bendavid C, Jaillard S, Rochard L, Quélin C, Dupé V, David V, Odent S.
    J Med Genet; 2011 Nov; 48(11):752-60. PubMed ID: 21940735
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  • 4. Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.
    Hehr U, Pineda-Alvarez DE, Uyanik G, Hu P, Zhou N, Hehr A, Schell-Apacik C, Altus C, Daumer-Haas C, Meiner A, Steuernagel P, Roessler E, Winkler J, Muenke M.
    Hum Genet; 2010 Mar; 127(5):555-61. PubMed ID: 20157829
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  • 6. The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
    Paulussen AD, Schrander-Stumpel CT, Tserpelis DC, Spee MK, Stegmann AP, Mancini GM, Brooks AS, Collée M, Maat-Kievit A, Simon ME, van Bever Y, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Herkert JC, van Essen AJ, Lichtenbelt KD, van Haeringen A, Kwee ML, Lachmeijer AM, Tan-Sindhunata GM, van Maarle MC, Arens YH, Smeets EE, de Die-Smulders CE, Engelen JJ, Smeets HJ, Herbergs J.
    Eur J Hum Genet; 2010 Sep; 18(9):999-1005. PubMed ID: 20531442
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  • 7. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
    Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Vélez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stashinko E, Potocki L, Vanallen MI, Clayton-Smith J, Donnai D, Bianchi DW, Juliusson PB, Njølstad PR, Brunner HG, Carey JC, Hehr U, Müsebeck J, Wieacker PF, Postra A, Hennekam RC, van den Boogaard MJ, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel CT, Janecke AR, Chitayat D, Hahn J, McDonald-McGinn DM, Zackai EH, Dobyns WB, Muenke M.
    J Med Genet; 2009 Jun; 46(6):389-98. PubMed ID: 19346217
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  • 8. Six3 dosage mediates the pathogenesis of holoprosencephaly.
    Geng X, Acosta S, Lagutin O, Gil HJ, Oliver G.
    Development; 2016 Dec 01; 143(23):4462-4473. PubMed ID: 27770010
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  • 9. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.
    Wallis DE, Roessler E, Hehr U, Nanni L, Wiltshire T, Richieri-Costa A, Gillessen-Kaesbach G, Zackai EH, Rommens J, Muenke M.
    Nat Genet; 1999 Jun 01; 22(2):196-8. PubMed ID: 10369266
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  • 10. Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.
    Bendavid C, Dubourg C, Gicquel I, Pasquier L, Saugier-Veber P, Durou MR, Jaillard S, Frébourg T, Haddad BR, Henry C, Odent S, David V.
    Hum Genet; 2006 Mar 01; 119(1-2):1-8. PubMed ID: 16323008
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  • 11. Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly.
    Geng X, Speirs C, Lagutin O, Inbal A, Liu W, Solnica-Krezel L, Jeong Y, Epstein DJ, Oliver G.
    Dev Cell; 2008 Aug 01; 15(2):236-47. PubMed ID: 18694563
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  • 12. Pituitary stalk interruption syndrome and isolated pituitary hypoplasia may be caused by mutations in holoprosencephaly-related genes.
    Tatsi C, Sertedaki A, Voutetakis A, Valavani E, Magiakou MA, Kanaka-Gantenbein C, Chrousos GP, Dacou-Voutetakis C.
    J Clin Endocrinol Metab; 2013 Apr 01; 98(4):E779-84. PubMed ID: 23476075
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  • 13. Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients.
    Pineda-Alvarez DE, Dubourg C, David V, Roessler E, Muenke M.
    Am J Med Genet C Semin Med Genet; 2010 Feb 15; 154C(1):93-101. PubMed ID: 20104604
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  • 15. Holoprosencephaly-Polydactyly syndrome: in search of an etiology.
    Cordero DR, Bendavid C, Shanske AL, Haddad BR, Muenke M.
    Eur J Med Genet; 2008 Feb 15; 51(2):106-12. PubMed ID: 18178536
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  • 17. SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly.
    Stokes B, Berger SI, Hall BA, Weiss K, Martinez AF, Hadley DW, Murdock DR, Ramanathan S, Clark RD, Roessler E, Kruszka P, Muenke M.
    Congenit Anom (Kyoto); 2018 Jan 15; 58(1):29-32. PubMed ID: 28670735
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  • 18. Phenotypic and molecular variability of the holoprosencephalic spectrum.
    Lazaro L, Dubourg C, Pasquier L, Le Duff F, Blayau M, Durou MR, de la Pintière AT, Aguilella C, David V, Odent S.
    Am J Med Genet A; 2004 Aug 15; 129A(1):21-4. PubMed ID: 15266610
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  • 19. Comorbidity of congenital heart defects and holoprosencephaly is likely genetically driven and gene-specific.
    Tekendo-Ngongang C, Owosela B, Muenke M, Kruszka P.
    Am J Med Genet C Semin Med Genet; 2020 Mar 15; 184(1):154-158. PubMed ID: 32022405
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