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Journal Abstract Search

550 related items for PubMed ID: 19254783

  • 21. Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney.
    Wieser R, Fritz B, Ullmann R, Müller I, Galhuber M, Storlazzi CT, Ramaswamy A, Christiansen H, Shimizu N, Rehder H.
    Hum Mutat; 2005 Aug; 26(2):78-83. PubMed ID: 15957176
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  • 22. Clinical and molecular description of the prenatal diagnosis of a fetus with a maternally inherited microduplication 22q11.2 of 2.5 Mb.
    Christopoulou G, Sismani C, Sakellariou M, Saklamaki M, Athanassiou V, Velissariou V.
    Gene; 2013 Sep 25; 527(2):694-7. PubMed ID: 23506827
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  • 23. Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation.
    Stoller JZ, Epstein JA.
    Hum Mol Genet; 2005 Apr 01; 14(7):885-92. PubMed ID: 15703190
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  • 24. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.
    Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A.
    Genet Med; 2008 Apr 01; 10(4):267-77. PubMed ID: 18414210
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  • 30. A method for accurate detection of genomic microdeletions using real-time quantitative PCR.
    Weksberg R, Hughes S, Moldovan L, Bassett AS, Chow EW, Squire JA.
    BMC Genomics; 2005 Dec 13; 6():180. PubMed ID: 16351727
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  • 35. DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene.
    Conti E, Grifone N, Sarkozy A, Tandoi C, Marino B, Digilio MC, Mingarelli R, Pizzuti A, Dallapiccola B.
    Eur J Hum Genet; 2003 Apr 13; 11(4):349-51. PubMed ID: 12700609
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  • 37. 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.
    Portnoï MF, Lebas F, Gruchy N, Ardalan A, Biran-Mucignat V, Malan V, Finkel L, Roger G, Ducrocq S, Gold F, Taillemite JL, Marlin S.
    Am J Med Genet A; 2005 Aug 15; 137(1):47-51. PubMed ID: 16007629
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