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Journal Abstract Search

200 related items for PubMed ID: 23972161

  • 21. 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; 182(5):1008-1020. PubMed ID: 32077592
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  • 22. High-throughput screening identifies histone deacetylase inhibitors that modulate GTF2I expression in 7q11.23 microduplication autism spectrum disorder patient-derived cortical neurons.
    Cavallo F, Troglio F, Fagà G, Fancelli D, Shyti R, Trattaro S, Zanella M, D'Agostino G, Hughes JM, Cera MR, Pasi M, Gabriele M, Lazzarin M, Mihailovich M, Kooy F, Rosa A, Mercurio C, Varasi M, Testa G.
    Mol Autism; 2020 Nov 19; 11(1):88. PubMed ID: 33208191
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  • 23. 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 19; 86(5):487-91. PubMed ID: 24246242
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  • 26. 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 19; 22(1):64-70. PubMed ID: 23756441
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  • 29. 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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  • 30. Correlations between behavior, memory, sleep-wake and melatonin in Williams-Beuren syndrome.
    Santoro SD, Giacheti CM, Rossi NF, Campos LM, Pinato L.
    Physiol Behav; 2016 May 15; 159():14-9. PubMed ID: 26976740
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  • 33. Consistent hypersocial behavior in mice carrying a deletion of Gtf2i but no evidence of hyposocial behavior with Gtf2i duplication: Implications for Williams-Beuren syndrome and autism spectrum disorder.
    Martin LA, Iceberg E, Allaf G.
    Brain Behav; 2018 Jan 15; 8(1):e00895. PubMed ID: 29568691
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  • 35. Brief report: functional MRI of a patient with 7q11.23 duplication syndrome and autism spectrum disorder.
    Prontera P, Serino D, Caldini B, Scarponi L, Merla G, Testa G, Muti M, Napolioni V, Mazzotta G, Piccirilli M, Donti E.
    J Autism Dev Disord; 2014 Oct 15; 44(10):2608-13. PubMed ID: 24722762
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  • 37. 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 15; 167A(12):3197-203. PubMed ID: 26420477
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  • 38. Genome wide array-CGH and qPCR analysis for the identification of genome defects in Williams' syndrome patients in Saudi Arabia.
    Hussein IR, Magbooli A, Huwait E, Chaudhary A, Bader R, Gari M, Ashgan F, Alquaiti M, Abuzenadah A, AlQahtani M.
    Mol Cytogenet; 2016 Dec 15; 9():65. PubMed ID: 27525043
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  • 40. [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 Dec 15; 73(1):47-50. PubMed ID: 23335707
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