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386 related items for PubMed ID: 31151468

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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 31; 56(12):801-808. PubMed ID: 31413120
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  • 3. 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 Dec 31; 7(3):e30778. PubMed ID: 22412832
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  • 4. 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 31; 8(1):e00895. PubMed ID: 29568691
    [Abstract] [Full Text] [Related]

  • 5. Chromosomal Microarray Analysis in Taiwanese Patients with Williams-Beuren Syndrome.
    Kuo HT, Chen CH, Lin CY, Chang YS, Chang JG.
    Cytogenet Genome Res; 2019 Jan 31; 159(4):182-189. PubMed ID: 31931504
    [Abstract] [Full Text] [Related]

  • 6. Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.
    Kopp ND, Parrish PCR, Lugo M, Dougherty JD, Kozel BA.
    Mol Genet Genomic Med; 2018 Sep 31; 6(5):749-765. PubMed ID: 30008175
    [Abstract] [Full Text] [Related]

  • 7. Autism Spectrum Disorders: Analysis of Mobile Elements at 7q11.23 Williams-Beuren Region by Comparative Genomics.
    Cupaioli FA, Fallerini C, Mencarelli MA, Perticaroli V, Filippini V, Mari F, Renieri A, Mezzelani A.
    Genes (Basel); 2021 Oct 12; 12(10):. PubMed ID: 34680999
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. 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 19; 14(4):748-758. PubMed ID: 33314766
    [Abstract] [Full Text] [Related]

  • 10. [Clinical aspects and genetics of Williams-Beuren syndrome. Clinical and molecular genetic study of 44 patients with suspected Williams-Beuren syndrome].
    von Beust G, Laccone FA, del Pilar Andrino M, Wessel A.
    Klin Padiatr; 2000 Apr 19; 212(6):299-307. PubMed ID: 11190824
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  • 12. Clinical application of chromosomal microarray analysis for the diagnosis of Williams-Beuren syndrome in Chinese Han patients.
    Xia Y, Huang S, Wu Y, Yang Y, Chen S, Li P, Zhuang J.
    Mol Genet Genomic Med; 2019 Feb 19; 7(2):e00517. PubMed ID: 30565396
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  • 16. Chromosomal microarray and whole-exome sequence analysis in Taiwanese patients with autism spectrum disorder.
    Chang YS, Lin CY, Huang HY, Chang JG, Kuo HT.
    Mol Genet Genomic Med; 2019 Dec 19; 7(12):e996. PubMed ID: 31595719
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  • 20. 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 19; 182(5):1008-1020. PubMed ID: 32077592
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