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Journal Abstract Search

550 related items for PubMed ID: 19254783

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  • 2. An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment.
    Pebrel-Richard C, Kemeny S, Gouas L, Eymard-Pierre E, Blanc N, Francannet C, Tchirkov A, Goumy C, Vago P.
    Eur J Med Genet; 2012 Nov; 55(11):650-5. PubMed ID: 22796526
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  • 4. Concurrent microdeletion and duplication of 22q11.2.
    Blennow E, Lagerstedt K, Malmgren H, Sahlén S, Schoumans J, Anderlid B.
    Clin Genet; 2008 Jul; 74(1):61-7. PubMed ID: 18445048
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  • 6. 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.
    Alberti A, Romano C, Falco M, Calì F, Schinocca P, Galesi O, Spalletta A, Di Benedetto D, Fichera M.
    Clin Genet; 2007 Feb; 71(2):177-82. PubMed ID: 17250668
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  • 8. 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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  • 14. Developmental perspectives on copy number abnormalities of the 22q11.2 region.
    Tan TY, Gordon CT, Amor DJ, Farlie PG.
    Clin Genet; 2010 Sep 01; 78(3):201-18. PubMed ID: 20497193
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  • 16. 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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  • 17. Computational analysis and refinement of sequence structure on chromosome 22q11.2 region: application to the development of quantitative real-time PCR assay for clinical diagnosis.
    Chen YF, Kou PL, Tsai SJ, Chen KF, Chan HH, Chen CM, Sun HS.
    Genomics; 2006 Feb 15; 87(2):290-7. PubMed ID: 16307865
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  • 18. Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.
    Bi W, Probst FJ, Wiszniewska J, Plunkett K, Roney EK, Carter BS, Williams MD, Stankiewicz P, Patel A, Stevens CA, Lupski JR, Cheung SW.
    J Med Genet; 2012 Nov 15; 49(11):681-8. PubMed ID: 23042811
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  • 20. A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome.
    Hassed SJ, Hopcus-Niccum D, Zhang L, Li S, Mulvihill JJ.
    Clin Genet; 2004 May 15; 65(5):400-4. PubMed ID: 15099348
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