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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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]