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Journal Abstract Search

268 related items for PubMed ID: 31413120

  • 1. Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.
    Codina-Sola M, Costa-Roger M, Pérez-García D, Flores R, Palacios-Verdú MG, Cusco I, Pérez-Jurado LA.
    J Med Genet; 2019 Dec; 56(12):801-808. PubMed ID: 31413120
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  • 4. Whole Exome Sequencing Identifies Novel De Novo Variants Interacting with Six Gene Networks in Autism Spectrum Disorder.
    Kim N, Kim KH, Lim WJ, Kim J, Kim SA, Yoo HJ.
    Genes (Basel); 2020 Dec 22; 12(1):. PubMed ID: 33374967
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  • 8. Comparison of Adaptive Functioning in Children with Williams Beuren Syndrome and Autism Spectrum Disorder: A Cross-Syndrome Study.
    Alfieri P, Scibelli F, Digilio MC, Novello RL, Caciolo C, Valeri G, Vicari S.
    Autism Res; 2021 Apr 22; 14(4):748-758. PubMed ID: 33314766
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  • 10. Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.
    Fusco C, Micale L, Augello B, Teresa Pellico M, Menghini D, Alfieri P, Cristina Digilio M, Mandriani B, Carella M, Palumbo O, Vicari S, Merla G.
    Eur J Hum Genet; 2014 Jan 22; 22(1):64-70. PubMed ID: 23756441
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  • 11. 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 Jan 22; 146(3):181-6. PubMed ID: 26382598
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  • 14. Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams-Beuren syndrome.
    Lugo M, Wong ZC, Billington CJ, Parrish PCR, Muldoon G, Liu D, Pober BR, Kozel BA.
    Am J Med Genet A; 2020 May 22; 182(5):1008-1020. PubMed ID: 32077592
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  • 16. An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.
    Edelmann L, Prosnitz A, Pardo S, Bhatt J, Cohen N, Lauriat T, Ouchanov L, González PJ, Manghi ER, Bondy P, Esquivel M, Monge S, Delgado MF, Splendore A, Francke U, Burton BK, McInnes LA.
    J Med Genet; 2007 Feb 22; 44(2):136-43. PubMed ID: 16971481
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  • 19. Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.
    Alesi V, Loddo S, Orlando V, Genovese S, Di Tommaso S, Liambo MT, Pompili D, Ferretti D, Calacci C, Catino G, Falasca R, Dentici ML, Novelli A, Digilio MC, Dallapiccola B.
    Am J Med Genet A; 2021 Jan 22; 185(1):242-249. PubMed ID: 33098373
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  • 20. Molecular and phenotypic characterization of atypical Williams-Beuren syndrome.
    Euteneuer J, Carvalho CM, Kulkarni S, Vineyard M, Grady RM, Lupski JR, Shinawi M.
    Clin Genet; 2014 Nov 22; 86(5):487-91. PubMed ID: 24246242
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