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Journal Abstract Search

250 related items for PubMed ID: 17565757

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  • 3. 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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  • 6. Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.
    Masson J, Demily C, Chatron N, Labalme A, Rollat-Farnier PA, Schluth-Bolard C, Gilbert-Dussardier B, Giuliano F, Touraine R, Tordjman S, Verloes A, Testa G, Sanlaville D, Edery P, Lesca G, Rossi M.
    Orphanet J Rare Dis; 2019 May 31; 14(1):121. PubMed ID: 31151468
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  • 7. A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.
    Plaja A, Castells N, Cueto-González AM, del Campo M, Vendrell T, Lloveras E, Izquierdo L, Borregan M, Rodríguez-Santiago B, Carrió A, Miró R, Tizzano E.
    Cytogenet Genome Res; 2015 May 31; 146(3):181-6. PubMed ID: 26382598
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  • 9. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
    Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, Salamone J, Freedenberg D, Hannig VL, Prock LA, Miller DT, Raffalli P, Harris DJ, Erickson RP, Cunniff C, Clark GD, Blazo MA, Peiffer DA, Gunderson KL, Sahoo T, Patel A, Lupski JR, Beaudet AL, Cheung SW.
    Genet Med; 2007 Jul 31; 9(7):427-41. PubMed ID: 17666889
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  • 10. 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 31; 18(5):683-94. PubMed ID: 18292220
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  • 11. Copy number variants at Williams-Beuren syndrome 7q11.23 region.
    Merla G, Brunetti-Pierri N, Micale L, Fusco C.
    Hum Genet; 2010 Jul 31; 128(1):3-26. PubMed ID: 20437059
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  • 13. Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.
    Tordjman S, Anderson GM, Botbol M, Toutain A, Sarda P, Carlier M, Saugier-Veber P, Baumann C, Cohen D, Lagneaux C, Tabet AC, Verloes A.
    PLoS One; 2012 Jul 31; 7(3):e30778. PubMed ID: 22412832
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  • 15. Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.
    Torniero C, Dalla Bernardina B, Novara F, Cerini R, Bonaglia C, Pramparo T, Ciccone R, Guerrini R, Zuffardi O.
    Eur J Hum Genet; 2008 Aug 31; 16(8):880-7. PubMed ID: 18337728
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  • 16. A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK.
    Pérez Jurado LA, Wang YK, Peoples R, Coloma A, Cruces J, Francke U.
    Hum Mol Genet; 1998 Mar 31; 7(3):325-34. PubMed ID: 9466987
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