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Journal Abstract Search


386 related items for PubMed ID: 31151468

  • 21. Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.
    Antonell A, Del Campo M, Magano LF, Kaufmann L, de la Iglesia JM, Gallastegui F, Flores R, Schweigmann U, Fauth C, Kotzot D, Pérez-Jurado LA.
    J Med Genet; 2010 May; 47(5):312-20. PubMed ID: 19897463
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  • 22. Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome.
    Tordjman S, Anderson GM, Cohen D, Kermarrec S, Carlier M, Touitou Y, Saugier-Veber P, Lagneaux C, Chevreuil C, Verloes A.
    Mol Autism; 2013 Aug 23; 4(1):29. PubMed ID: 23972161
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  • 23. Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.
    Dutra RL, Pieri Pde C, Teixeira AC, Honjo RS, Bertola DR, Kim CA.
    Clinics (Sao Paulo); 2011 Aug 23; 66(6):959-64. PubMed ID: 21808859
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  • 24. Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-Beuren syndrome.
    Ghaffari M, Tahmasebi Birgani M, Kariminejad R, Saberi A.
    Ann Hum Genet; 2018 Nov 23; 82(6):469-476. PubMed ID: 30155880
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  • 26. Copy number variants at Williams-Beuren syndrome 7q11.23 region.
    Merla G, Brunetti-Pierri N, Micale L, Fusco C.
    Hum Genet; 2010 Jul 23; 128(1):3-26. PubMed ID: 20437059
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  • 30. Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis.
    Li L, Huang L, Luo Y, Huang X, Lin S, Fang Q.
    Mol Syndromol; 2016 Feb 23; 6(6):268-75. PubMed ID: 27022327
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  • 34. Increased heart rate fragmentation in those with Williams-Beuren syndrome suggests nonautonomic mechanistic contributors to sudden death risk.
    Cathey BM, Bellach A, Troendle J, Smith K, Osgood S, Raja N, Kozel BA, Levin MD.
    Am J Physiol Heart Circ Physiol; 2024 Aug 01; 327(2):H521-H532. PubMed ID: 38904853
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  • 37. Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
    Mulle JG, Pulver AE, McGrath JA, Wolyniec PS, Dodd AF, Cutler DJ, Sebat J, Malhotra D, Nestadt G, Conrad DF, Hurles M, Barnes CP, Ikeda M, Iwata N, Levinson DF, Gejman PV, Sanders AR, Duan J, Mitchell AA, Peter I, Sklar P, O'Dushlaine CT, Grozeva D, O'Donovan MC, Owen MJ, Hultman CM, Kähler AK, Sullivan PF, Molecular Genetics of Schizophrenia Consortium, Kirov G, Warren ST.
    Biol Psychiatry; 2014 Mar 01; 75(5):371-7. PubMed ID: 23871472
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  • 38. 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 01; 44(10):2608-13. PubMed ID: 24722762
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