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Journal Abstract Search


351 related items for PubMed ID: 8696341

  • 1. 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; 13(4):458-60. PubMed ID: 8696341
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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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  • 4. DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review.
    Demczuk S, Aurias A.
    Ann Genet; 1995 Apr 10; 38(2):59-76. PubMed ID: 7486827
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  • 6. 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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  • 8. Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2).
    Schuffenhauer S, Lichtner P, Peykar-Derakhshandeh P, Murken J, Haas OA, Back E, Wolff G, Zabel B, Barisic I, Rauch A, Borochowitz Z, Dallapiccola B, Ross M, Meitinger T.
    Eur J Hum Genet; 1998 May 26; 6(3):213-25. PubMed ID: 9781025
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  • 9. Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region.
    Lindsay EA, Greenberg F, Shaffer LG, Shapira SK, Scambler PJ, Baldini A.
    Am J Med Genet; 1995 Mar 27; 56(2):191-7. PubMed ID: 7625444
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  • 15. Molecular and genetic aspects of DiGeorge/velocardiofacial syndrome.
    Driscoll DA.
    Methods Mol Med; 2006 Mar 27; 126():43-55. PubMed ID: 16930005
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  • 17. Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies.
    Skrypnyk C, Goecke TO, Majewski F, Bartsch O.
    Am J Med Genet; 2002 Nov 22; 113(2):207-12. PubMed ID: 12407714
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  • 19. CATCH 22 syndrome: report of 7 infants with follow-up data and review of the recent advancements in the genetic knowledge of the locus 22q11.
    Sergi C, Serpi M, Müller-Navia J, Schnabel PA, Hagl S, Otto HF, Ulmer HE.
    Pathologica; 1999 Jun 22; 91(3):166-72. PubMed ID: 10536461
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