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PUBMED FOR HANDHELDS

Journal Abstract Search


205 related items for PubMed ID: 10710230

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  • 2. Mutations in holoprosencephaly.
    Wallis D, Muenke M.
    Hum Mutat; 2000; 16(2):99-108. PubMed ID: 10923031
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  • 4. 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; 119(1-2):1-8. PubMed ID: 16323008
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  • 6. Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype.
    Bendavid C, Haddad BR, Griffin A, Huizing M, Dubourg C, Gicquel I, Cavalli LR, Pasquier L, Shanske AL, Long R, Ouspenskaia M, Odent S, Lacbawan F, David V, Muenke M.
    J Med Genet; 2006 Jun; 43(6):496-500. PubMed ID: 16199538
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  • 8. 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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  • 13. Holoprosencephaly-Polydactyly syndrome: in search of an etiology.
    Cordero DR, Bendavid C, Shanske AL, Haddad BR, Muenke M.
    Eur J Med Genet; 2008 Jun; 51(2):106-12. PubMed ID: 18178536
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  • 14. A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease.
    Chen M, Kuo SJ, Liu CS, Chen WL, Ko TM, Chen TH, Chang SP, Huang CH, Chang YY, Wang BT.
    Prenat Diagn; 2006 Mar; 26(3):226-30. PubMed ID: 16475235
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  • 17. 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; 22(2):196-8. PubMed ID: 10369266
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  • 19. Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway.
    Taniguchi K, Anderson AE, Sutherland AE, Wotton D.
    PLoS Genet; 2012 Jun; 8(2):e1002524. PubMed ID: 22383895
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