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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

163 related items for PubMed ID: 12522553

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  • 2. Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.
    Dubourg C, Lazaro L, Pasquier L, Bendavid C, Blayau M, Le Duff F, Durou MR, Odent S, David V.
    Hum Mutat; 2004 Jul; 24(1):43-51. PubMed ID: 15221788
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  • 6. Mutations in holoprosencephaly.
    Wallis D, Muenke M.
    Hum Mutat; 2000 Jul; 16(2):99-108. PubMed ID: 10923031
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  • 7. [Genetic study of holoprosencephaly].
    Dubourg C, Lazaro L, Blayau M, Pasquier L, Durou MR, Odent S, David V.
    Ann Biol Clin (Paris); 2003 Jul; 61(6):679-87. PubMed ID: 14711609
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  • 9. Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.
    Gripp KW, Wotton D, Edwards MC, Roessler E, Ades L, Meinecke P, Richieri-Costa A, Zackai EH, Massagué J, Muenke M, Elledge SJ.
    Nat Genet; 2000 Jun; 25(2):205-8. PubMed ID: 10835638
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  • 11. Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis.
    Chen CP, Chern SR, Du SH, Wang W.
    Prenat Diagn; 2002 Jan; 22(1):5-7. PubMed ID: 11810641
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  • 12. Single median maxillary central incisor: new data and mutation review.
    El-Jaick KB, Fonseca RF, Moreira MA, Ribeiro MG, Bolognese AM, Dias SO, Pereira ET, Castilla EE, Orioli IM.
    Birth Defects Res A Clin Mol Teratol; 2007 Aug; 79(8):573-80. PubMed ID: 17584896
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  • 15. 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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  • 16. Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway.
    Taniguchi K, Anderson AE, Sutherland AE, Wotton D.
    PLoS Genet; 2012 Nov; 8(2):e1002524. PubMed ID: 22383895
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  • 17. Zebrafish model of holoprosencephaly demonstrates a key role for TGIF in regulating retinoic acid metabolism.
    Gongal PA, Waskiewicz AJ.
    Hum Mol Genet; 2008 Feb 15; 17(4):525-38. PubMed ID: 17998248
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  • 18. Functional analysis of mutations in TGIF associated with holoprosencephaly.
    El-Jaick KB, Powers SE, Bartholin L, Myers KR, Hahn J, Orioli IM, Ouspenskaia M, Lacbawan F, Roessler E, Wotton D, Muenke M.
    Mol Genet Metab; 2007 Jan 15; 90(1):97-111. PubMed ID: 16962354
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  • 19. 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 15; 119(1-2):1-8. PubMed ID: 16323008
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  • 20. Holoprosencephaly: molecular study of a California population.
    Nanni L, Croen LA, Lammer EJ, Muenke M.
    Am J Med Genet; 2000 Feb 14; 90(4):315-9. PubMed ID: 10710230
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