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Journal Abstract Search

127 related items for PubMed ID: 8776594

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  • 4. Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region.
    Gong W, Emanuel BS, Galili N, Kim DH, Roe B, Driscoll DA, Budarf ML.
    Hum Mol Genet; 1997 Feb; 6(2):267-76. PubMed ID: 9063747
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  • 7. Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11.
    Funke B, Saint-Jore B, Puech A, Sirotkin H, Edelmann L, Carlson C, Raft S, Pandita RK, Kucherlapati R, Skoultchi A, Morrow BE.
    Genomics; 1997 Dec 15; 46(3):364-72. PubMed ID: 9441739
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  • 8. Isolation and characterization of a novel gene from the DiGeorge chromosomal region that encodes for a mediator subunit.
    Berti L, Mittler G, Przemeck GK, Stelzer G, Günzler B, Amati F, Conti E, Dallapiccola B, Hrabé de Angelis M, Novelli G, Meisterernst M.
    Genomics; 2001 Jun 15; 74(3):320-32. PubMed ID: 11414760
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  • 13. Molecular characterization of a serine/threonine kinase in the DiGeorge minimal critical region.
    Goldmuntz E, Fedon J, Roe B, Budarf ML.
    Gene; 1997 Oct 01; 198(1-2):379-86. PubMed ID: 9370305
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  • 14. Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.
    Kelly D, Goldberg R, Wilson D, Lindsay E, Carey A, Goodship J, Burn J, Cross I, Shprintzen RJ, Scambler PJ.
    Am J Med Genet; 1993 Feb 01; 45(3):308-12. PubMed ID: 8434616
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  • 18. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.
    Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai EH, Emanuel BS.
    J Med Genet; 1993 Oct 01; 30(10):813-7. PubMed ID: 8230155
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  • 19. Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome.
    Morrow B, Goldberg R, Carlson C, Das Gupta R, Sirotkin H, Collins J, Dunham I, O'Donnell H, Scambler P, Shprintzen R.
    Am J Hum Genet; 1995 Jun 01; 56(6):1391-403. PubMed ID: 7762562
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  • 20. A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region.
    Galili N, Baldwin HS, Lund J, Reeves R, Gong W, Wang Z, Roe BA, Emanuel BS, Nayak S, Mickanin C, Budarf ML, Buck CA.
    Genome Res; 1997 Jan 01; 7(1):17-26. PubMed ID: 9037598
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