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High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.
Zodanu GKE, Hwang JH, Mehta Z, Sisniega C, Barsegian A, Kang X, Biniwale R, Si MS, Satou GM, Halnon N, Ucla Congenital Heart Defect BioCore Faculty, Grody WW, Van Arsdell GS, Nelson SF, Touma M. Zodanu GKE, et al. Among authors: nelson sf. Int J Mol Sci. 2024 May 17;25(10):5469. doi: 10.3390/ijms25105469. Int J Mol Sci. 2024. PMID: 38791509 Free PMC article.
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.
Andrews JC, Mok JW, Kanca O, Jangam S, Tifft C, Macnamara EF, Russell BE, Wang LK; Undiagnosed Diseases Network; Nelson SF, Bellen HJ, Yamamoto S, Malicdan MCV, Wangler MF. Andrews JC, et al. Among authors: nelson sf. Genet Med. 2023 Jun;25(6):100833. doi: 10.1016/j.gim.2023.100833. Epub 2023 Mar 31. Genet Med. 2023. PMID: 37013900 Free PMC article.
Fox-Fordyce Disease of the Breast.
Davis MI, Nelson SA, Swanson LA. Davis MI, et al. Among authors: nelson sa. Mayo Clin Proc. 2025 Jan;100(1):109-110. doi: 10.1016/j.mayocp.2024.11.003. Mayo Clin Proc. 2025. PMID: 39755421 No abstract available.
Rapid nongenomic estrogen signaling controls alcohol drinking behavior in mice.
Zallar LJ, Rivera-Irizarry JK, Hamor PU, Pigulevskiy I, Rico Rozo AS, Mehanna H, Liu D, Welday JP, Bender R, Asfouri JJ, Levine OB, Skelly MJ, Hadley CK, Fecteau KM, Nelson S, Miller J, Ghazal P, Bellotti P, Singh A, Hollmer LV, Erikson DW, Geri J, Pleil KE. Zallar LJ, et al. Among authors: nelson s. Nat Commun. 2024 Dec 30;15(1):10725. doi: 10.1038/s41467-024-54737-6. Nat Commun. 2024. PMID: 39737915 Free PMC article.
4,666 results