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Journal Abstract Search

149 related items for PubMed ID: 22226172

  • 1. Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries.
    Dutra RL, Honjo RS, Kulikowski LD, Fonseca FM, Pieri PC, Jehee FS, Bertola DR, Kim CA.
    BMC Res Notes; 2012 Jan 09; 5():13. PubMed ID: 22226172
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  • 2. Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.
    Dutra RL, Pieri Pde C, Teixeira AC, Honjo RS, Bertola DR, Kim CA.
    Clinics (Sao Paulo); 2011 Jan 09; 66(6):959-64. PubMed ID: 21808859
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  • 4. [Detection of a Williams Beuren syndrome case by MLPA].
    Laurito S, Branham T, Herrero G, Marsa S, Garro F, Roqué M.
    Medicina (B Aires); 2013 Jan 09; 73(1):47-50. PubMed ID: 23335707
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  • 5. Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.
    Dutra RL, Piazzon FB, Zanardo ÉA, Costa TV, Montenegro MM, Novo-Filho GM, Dias AT, Nascimento AM, Kim CA, Kulikowski LD.
    Am J Med Genet A; 2015 Dec 09; 167A(12):3197-203. PubMed ID: 26420477
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  • 9. [Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome].
    Milà M, Carrió A, Sánchez A, Gómez D, Jiménez D, Estivill X, Ballesta F.
    Med Clin (Barc); 1999 Jun 19; 113(2):46-9. PubMed ID: 10425618
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  • 11. FISH analysis in both classical and atypical cases of Williams-Beuren syndrome.
    Hou JW, Wang JK, Wang TR.
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1998 Jun 19; 39(6):398-403. PubMed ID: 9926515
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  • 14. [Genetic analysis of a child with atypical Williams-Beuren syndrome presenting as supravalvular aortic stenosis].
    Wu D, Zhang M, Gao Y, Huo X, Xiao H, Zhang Q, Kang B, Wang X, Liao S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Apr 10; 37(4):475-478. PubMed ID: 32219841
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  • 15. Williams-Beuren syndrome: determination of deletion size using quantitative real-time PCR.
    Schubert C, Laccone F.
    Int J Mol Med; 2006 Nov 10; 18(5):799-806. PubMed ID: 17016608
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  • 18. Detection of Hemizygous Chromosomal Copy Number Variants in Williams-Beuren Syndrome (WBS) by Duplex Quantitative PCR Array: An Unusual Type of WBS Genetic Defect.
    Etokebe GE, Axelsson S, Svaerd NH, Storhaug K, Dembić Z.
    Int J Biomed Sci; 2008 Sep 10; 4(3):161-70. PubMed ID: 23675084
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  • 19. Comparing two diagnostic laboratory tests for Williams syndrome: fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification.
    van Hagen JM, Eussen HJ, van Schooten R, van Der Geest JN, Lagers-van Haselen GC, Wouters CH, De Zeeuw CI, Gille JJ.
    Genet Test; 2007 Sep 10; 11(3):321-7. PubMed ID: 17949295
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  • 20. No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control.
    Frohnauer J, Caliebe A, Gesk S, Partsch CJ, Siebert R, Pankau R, Jenderny J.
    Mol Cytogenet; 2010 Nov 05; 3():21. PubMed ID: 21054846
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