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2012 1
2018 1
2021 1
2022 1
2024 0

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Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizures.
Jain L, Oberman LM, Beamer L, Cascio L, May M, Srikanth S, Skinner C, Jones K, Allen B, Rogers C, Phelan K, Kaufmann WE, DuPont B, Sarasua SM, Boccuto L. Jain L, et al. Clin Genet. 2022 Jan;101(1):87-100. doi: 10.1111/cge.14074. Epub 2021 Oct 27. Clin Genet. 2022. PMID: 34664257
Additionally, a 3 Mb genomic region on 22q13.31 containing the gene TBC1D22A, was found to be significantly associated with seizure prevalence. ...
Additionally, a 3 Mb genomic region on 22q13.31 containing the gene TBC1D22A, was found to be significantly associated with seizure p …
Four-Generation Pedigree of Monozygotic Female Twins Reveals Genetic Factors in Twinning Process by Whole-Genome Sequencing.
Liu S, Hong Y, Cui K, Guan J, Han L, Chen W, Xu Z, Gong K, Ou Y, Zeng C, Li S, Zhang D, Hu D. Liu S, et al. Twin Res Hum Genet. 2018 Oct;21(5):361-368. doi: 10.1017/thg.2018.41. Epub 2018 Aug 1. Twin Res Hum Genet. 2018. PMID: 30064533
Pathway analysis revealed a significant enrichment of genes carrying novel SNVs in the epithelial adherens junction-signaling pathway (p = .011), contributed by FGFR1, TUBB6, and MYH7B. Meanwhile, TBC1D22A, TRIOBP, and TUBB6, also carrying similar SNVs, were involved in th …
Pathway analysis revealed a significant enrichment of genes carrying novel SNVs in the epithelial adherens junction-signaling pathway (p = . …
Gene deletions and amplifications in human hepatocellular carcinomas: correlation with hepatocyte growth regulation.
Nalesnik MA, Tseng G, Ding Y, Xiang GS, Zheng ZL, Yu Y, Marsh JW, Michalopoulos GK, Luo JH. Nalesnik MA, et al. Am J Pathol. 2012 Apr;180(4):1495-508. doi: 10.1016/j.ajpath.2011.12.021. Epub 2012 Feb 8. Am J Pathol. 2012. PMID: 22326833 Free PMC article.
High frequencies of CNV were also seen in PTPRD (21/98), GNB1L (18/98), KIAA1217 (18/98), RP1-1777G6.2 (17/98), ETS1 (11/98), RSU1 (10/98), TBC1D22A (10/98), BAHCC1 (9/98), MAML2 (9/98), RAB1B (9/98), and YIF1A (9/98). ...
High frequencies of CNV were also seen in PTPRD (21/98), GNB1L (18/98), KIAA1217 (18/98), RP1-1777G6.2 (17/98), ETS1 (11/98), RSU1 (10/98), …