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Journal Abstract Search

260 related items for PubMed ID: 16930005

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  • 2. Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.
    Berend SA, Spikes AS, Kashork CD, Wu JM, Daw SC, Scambler PJ, Shaffer LG.
    Am J Med Genet; 2000 Apr 10; 91(4):313-7. PubMed ID: 10766989
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  • 3. A common region of 10p deleted in DiGeorge and velocardiofacial syndromes.
    Daw SC, Taylor C, Kraman M, Call K, Mao J, Schuffenhauer S, Meitinger T, Lipson T, Goodship J, Scambler P.
    Nat Genet; 1996 Aug 10; 13(4):458-60. PubMed ID: 8696341
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  • 5. Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations.
    Ravnan JB, Chen E, Golabi M, Lebo RV.
    Am J Med Genet; 1996 Dec 18; 66(3):250-6. PubMed ID: 8985481
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  • 8. Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).
    McQuade L, Christodoulou J, Budarf M, Sachdev R, Wilson M, Emanuel B, Colley A.
    Am J Med Genet; 1999 Sep 03; 86(1):27-33. PubMed ID: 10440825
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  • 9. Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes.
    D'Antoni S, Mattina T, Di Mare P, Federico C, Motta S, Saccone S.
    Gene; 2004 May 26; 333():111-9. PubMed ID: 15177686
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  • 10. [Clinical heterogeneity of the chromosome 22q11 microdeletion syndrome].
    Muñoz S, Garay F, Flores I, Heusser F, Talesnik E, Aracena M, Mellado C, Méndez C, Arnaiz P, Repetto G.
    Rev Med Chil; 2001 May 26; 129(5):515-21. PubMed ID: 11464533
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  • 11. Prenatal diagnosis of 22q11 microdeletion.
    Levy-Mozziconacci A, Piquet C, Heurtevin PC, Philip N.
    Prenat Diagn; 1997 Nov 26; 17(11):1033-7. PubMed ID: 9399351
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  • 12. DiGeorge syndrome: new insights.
    Goldmuntz E.
    Clin Perinatol; 2005 Dec 26; 32(4):963-78, ix-x. PubMed ID: 16325672
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  • 18. Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature.
    Leana-Cox J, Pangkanon S, Eanet KR, Curtin MS, Wulfsberg EA.
    Am J Med Genet; 1996 Nov 11; 65(4):309-16. PubMed ID: 8923941
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