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Journal Abstract Search

192 related items for PubMed ID: 22847929

  • 1. Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort.
    Ribeiro LA, Roessler E, Hu P, Pineda-Alvarez DE, Zhou N, Jones M, Chandrasekharappa S, Richieri-Costa A, Muenke M.
    Birth Defects Res A Clin Mol Teratol; 2012 Nov; 94(11):912-7. PubMed ID: 22847929
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  • 2. Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
    Solomon BD, Lacbawan F, Mercier S, Clegg NJ, Delgado MR, Rosenbaum K, Dubourg C, David V, Olney AH, Wehner LE, Hehr U, Bale S, Paulussen A, Smeets HJ, Hardisty E, Tylki-Szymanska A, Pronicka E, Clemens M, McPherson E, Hennekam RC, Hahn J, Stashinko E, Levey E, Wieczorek D, Roeder E, Schell-Apacik CC, Booth CW, Thomas RL, Kenwrick S, Cummings DA, Bous SM, Keaton A, Balog JZ, Hadley D, Zhou N, Long R, Vélez JI, Pineda-Alvarez DE, Odent S, Roessler E, Muenke M.
    J Med Genet; 2010 Aug; 47(8):513-24. PubMed ID: 19955556
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  • 3. 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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  • 11. In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation.
    Brown L, Paraso M, Arkell R, Brown S.
    Hum Mol Genet; 2005 Feb 01; 14(3):411-20. PubMed ID: 15590697
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  • 12. Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2.
    Ramocki MB, Scaglia F, Stankiewicz P, Belmont JW, Jones JY, Clark GD.
    Am J Med Genet A; 2011 Jul 01; 155A(7):1574-80. PubMed ID: 21638761
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  • 15. Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2.
    Wannasilp N, Solomon BD, Warren-Mora N, Clegg NJ, Delgado MR, Lacbawan F, Hu P, Winder TL, Roessler E, Muenke M.
    Am J Med Genet A; 2011 Apr 01; 155A(4):860-4. PubMed ID: 21416594
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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 01; 184(1):154-158. PubMed ID: 32022405
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