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Journal Abstract Search

205 related items for PubMed ID: 19752158

  • 1. A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms.
    Beunders G, van de Kamp JM, Veenhoven RH, van Hagen JM, Nieuwint AW, Sistermans EA.
    J Med Genet; 2010 Apr; 47(4):271-5. PubMed ID: 19752158
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  • 4. 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; 16(8):880-7. PubMed ID: 18337728
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  • 8. 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 Aug; 146(3):181-6. PubMed ID: 26382598
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  • 11. Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.
    Honjo RS, Dutra RL, Furusawa EA, Zanardo EA, Costa LS, Kulikowski LD, Bertola DR, Kim CA.
    Biomed Res Int; 2015 Aug; 2015():903175. PubMed ID: 26090456
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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 Aug; 7(3):e30778. PubMed ID: 22412832
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  • 14. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.
    Kirchhoff M, Bisgaard AM, Bryndorf T, Gerdes T.
    Eur J Med Genet; 2007 Aug; 50(1):33-42. PubMed ID: 17090394
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  • 19. Familial Williams-Beuren syndrome ascertained by screening rather than targeted diagnosis.
    Rafati M, Seyyedaboutorabi E, Brujerdi R, Moossavi S, Ghaffari SR.
    Clin Dysmorphol; 2012 Jul; 21(3):118-123. PubMed ID: 22473150
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