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Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.
Liu D, Billington CJ Jr, Raja N, Wong ZC, Levin MD, Resch W, Alba C, Hupalo DN, Biamino E, Bedeschi MF, Digilio MC, Squeo GM, Villa R, Parrish PCR, Knutsen RH, Osgood S, Freeman JA, Dalgard CL, Merla G, Pober BR, Mervis CB, Roberts AE, Morris CA, Osborne LR, Kozel BA. Liu D, et al. Among authors: osborne lr. J Am Heart Assoc. 2024 Feb 6;13(3):e031377. doi: 10.1161/JAHA.123.031377. Epub 2024 Jan 31. J Am Heart Assoc. 2024. PMID: 38293922 Free PMC article.
GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders.
López-Tobón A, Shyti R, Villa CE, Cheroni C, Fuentes-Bravo P, Trattaro S, Caporale N, Troglio F, Tenderini E, Mihailovich M, Skaros A, Gibson WT, Cuomo A, Bonaldi T, Mercurio C, Varasi M, Osborne L, Testa G. López-Tobón A, et al. Sci Adv. 2023 Dec;9(48):eadh2726. doi: 10.1126/sciadv.adh2726. Epub 2023 Nov 29. Sci Adv. 2023. PMID: 38019906 Free PMC article.
Williams syndrome.
Kozel BA, Barak B, Kim CA, Mervis CB, Osborne LR, Porter M, Pober BR. Kozel BA, et al. Among authors: osborne lr. Nat Rev Dis Primers. 2021 Jun 17;7(1):42. doi: 10.1038/s41572-021-00276-z. Nat Rev Dis Primers. 2021. PMID: 34140529 Free PMC article. Review.
7q11.23 Duplication Syndrome.
Mervis CB, Morris CA, Klein-Tasman BP, Velleman SL, Osborne LR. Mervis CB, et al. Among authors: osborne lr. 2015 Nov 25 [updated 2021 Mar 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2015 Nov 25 [updated 2021 Mar 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 26610320 Free Books & Documents. Review.
7q11.23 deletion and duplication.
Osborne LR, Mervis CB. Osborne LR, et al. Curr Opin Genet Dev. 2021 Jun;68:41-48. doi: 10.1016/j.gde.2021.01.013. Epub 2021 Feb 17. Curr Opin Genet Dev. 2021. PMID: 33610060 Review.
Spatial gene expression analysis of neuroanatomical differences in mouse models.
Fernandes DJ, Ellegood J, Askalan R, Blakely RD, Dicicco-Bloom E, Egan SE, Osborne LR, Powell CM, Raznahan A, Robins DM, Salter MW, Sengar AS, Veenstra-VanderWeele J, Henkelman RM, Lerch JP. Fernandes DJ, et al. Among authors: osborne lr. Neuroimage. 2017 Dec;163:220-230. doi: 10.1016/j.neuroimage.2017.08.065. Epub 2017 Sep 4. Neuroimage. 2017. PMID: 28882630 Free PMC article.
70 results