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Journal Abstract Search

227 related items for PubMed ID: 19039520

  • 1. The genomic basis of the Williams-Beuren syndrome.
    Schubert C.
    Cell Mol Life Sci; 2009 Apr; 66(7):1178-97. PubMed ID: 19039520
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  • 3. 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; 167A(12):3197-203. PubMed ID: 26420477
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  • 4. 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 Dec; 66(6):959-64. PubMed ID: 21808859
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  • 5. Copy number variants at Williams-Beuren syndrome 7q11.23 region.
    Merla G, Brunetti-Pierri N, Micale L, Fusco C.
    Hum Genet; 2010 Jul; 128(1):3-26. PubMed ID: 20437059
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  • 7. Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.
    Cuscó I, Corominas R, Bayés M, Flores R, Rivera-Brugués N, Campuzano V, Pérez-Jurado LA.
    Genome Res; 2008 May; 18(5):683-94. PubMed ID: 18292220
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  • 8. Mutational mechanisms of Williams-Beuren syndrome deletions.
    Bayés M, Magano LF, Rivera N, Flores R, Pérez Jurado LA.
    Am J Hum Genet; 2003 Jul; 73(1):131-51. PubMed ID: 12796854
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  • 9. A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome.
    Delgado LM, Gutierrez M, Augello B, Fusco C, Micale L, Merla G, Pastene EA.
    Mol Syndromol; 2013 Mar; 4(3):143-7. PubMed ID: 23653586
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  • 11. Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development.
    Osborne LR, Mervis CB.
    Expert Rev Mol Med; 2007 Jun 13; 9(15):1-16. PubMed ID: 17565757
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  • 15. Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome.
    Dutly F, Schinzel A.
    Hum Mol Genet; 1996 Dec 13; 5(12):1893-8. PubMed ID: 8968740
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  • 18. Williams-Beuren syndrome: genes and mechanisms.
    Francke U.
    Hum Mol Genet; 1999 Dec 13; 8(10):1947-54. PubMed ID: 10469848
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  • 19. [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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