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Journal Abstract Search


904 related items for PubMed ID: 10766989

  • 1. 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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  • 2. 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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  • 3. 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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  • 4. 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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  • 5. DiGeorge anomaly and chromosome 10p deletions: one or two loci?
    Dasouki M, Jurecic V, Phillips JA, Whitlock JA, Baldini A.
    Am J Med Genet; 1997 Nov 28; 73(1):72-5. PubMed ID: 9375926
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  • 6. Molecular and genetic aspects of DiGeorge/velocardiofacial syndrome.
    Driscoll DA.
    Methods Mol Med; 2006 Nov 28; 126():43-55. PubMed ID: 16930005
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  • 9. Microsatellite DNA markers detects 95% of chromosome 22q11 deletions.
    Bonnet D, Cormier-Daire V, Kachaner J, Szezepanski I, Souillard P, Sidi D, Munnich A, Lyonnet S.
    Am J Med Genet; 1997 Jan 20; 68(2):182-4. PubMed ID: 9028455
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  • 10. 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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  • 13. DiGeorge syndrome and partial monosomy 10p: case report and review.
    Schuffenhauer S, Seidel H, Oechsler H, Belohradsky B, Bernsau U, Murken J, Meitinger T.
    Ann Genet; 1995 May 26; 38(3):162-7. PubMed ID: 8540688
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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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  • 15. [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 01; 129(5):515-21. PubMed ID: 11464533
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  • 16. 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 01; 6(3):213-25. PubMed ID: 9781025
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  • 17. 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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  • 18. Classical Noonan syndrome is not associated with deletions of 22q11.
    Robin NH, Sellinger B, McDonald-McGinn D, Zackai EH, Emanuel BS, Driscoll DA.
    Am J Med Genet; 1995 Mar 13; 56(1):94-6. PubMed ID: 7747795
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  • 20. Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome.
    Fernández L, Lapunzina P, Arjona D, López Pajares I, García-Guereta L, Elorza D, Burgueros M, De Torres ML, Mori MA, Palomares M, García-Alix A, Delicado A.
    Clin Genet; 2005 Oct 13; 68(4):373-8. PubMed ID: 16143025
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