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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: pober br. 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.
Hypercalcemia in Patients with Williams-Beuren Syndrome.
Sindhar S, Lugo M, Levin MD, Danback JR, Brink BD, Yu E, Dietzen DJ, Clark AL, Purgert CA, Waxler JL, Elder RW, Pober BR, Kozel BA. Sindhar S, et al. Among authors: pober br. J Pediatr. 2016 Nov;178:254-260.e4. doi: 10.1016/j.jpeds.2016.08.027. Epub 2016 Aug 26. J Pediatr. 2016. PMID: 27574996 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: pober br. 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.
Skin findings in Williams syndrome.
Kozel BA, Bayliss SJ, Berk DR, Waxler JL, Knutsen RH, Danback JR, Pober BR. Kozel BA, et al. Among authors: pober br. Am J Med Genet A. 2014 Sep;164A(9):2217-25. doi: 10.1002/ajmg.a.36628. Epub 2014 Jun 11. Am J Med Genet A. 2014. PMID: 24920525 Free PMC article.
Mild macrocytosis in Williams-Beuren syndrome.
Yu E, Feinn R, Bona R, Brink B, Sindhar S, Kozel BA, Pober BR. Yu E, et al. Among authors: pober br. Eur J Med Genet. 2020 Mar;63(3):103740. doi: 10.1016/j.ejmg.2019.103740. Epub 2019 Aug 14. Eur J Med Genet. 2020. PMID: 31419598
99 results