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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.
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Petit F, Longoni M, Wells J, Maser RS, Bogenschutz EL, Dysart MJ, Contreras HTM, Frénois F, Pober BR, Clark RD, Giampietro PF, Ropers HH, Hu H, Loscertales M, Wagner R, Ai X, Brand H, Jourdain AS, Delrue MA, Gilbert-Dussardier B, Devisme L, Keren B, McCulley DJ, Qiao L, Hernan R, Wynn J, Scott TM, Calame DG, Coban-Akdemir Z, Hernandez P, Hernandez-Garcia A, Yonath H, Lupski JR, Shen Y, Chung WK, Scott DA, Bult CJ, Donahoe PK, High FA. Petit F, et al. Among authors: pober br. Am J Hum Genet. 2023 Oct 5;110(10):1787-1803. doi: 10.1016/j.ajhg.2023.09.002. Epub 2023 Sep 25. Am J Hum Genet. 2023. PMID: 37751738 Free PMC article.
Diversity of Participants in Williams Syndrome Intervention Studies.
Shin E, Ravichandran C, Renzi D, Pober BR, McDougle CJ, Thom RP. Shin E, et al. Among authors: pober br. J Autism Dev Disord. 2024 Oct;54(10):3888-3898. doi: 10.1007/s10803-023-06088-2. Epub 2023 Aug 16. J Autism Dev Disord. 2024. PMID: 37584767
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.
Repetitive Thoughts and Repetitive Behaviors in Williams Syndrome.
Huston JC, Thom RP, Ravichandran CT, Mullett JE, Moran C, Waxler JL, Pober BR, McDougle CJ. Huston JC, et al. Among authors: pober br. J Autism Dev Disord. 2022 Feb;52(2):852-862. doi: 10.1007/s10803-021-04979-w. Epub 2021 Apr 10. J Autism Dev Disord. 2022. PMID: 33837487
Growth, body composition, and endocrine issues in Williams syndrome.
Stanley TL, Leong A, Pober BR. Stanley TL, et al. Among authors: pober br. Curr Opin Endocrinol Diabetes Obes. 2021 Feb 1;28(1):64-74. doi: 10.1097/MED.0000000000000588. Curr Opin Endocrinol Diabetes Obes. 2021. PMID: 33165016 Free PMC article. Review.
Congenital Diaphragmatic Hernia Overview.
Longoni M, Pober BR, High FA. Longoni M, et al. Among authors: pober br. 2006 Feb 1 [updated 2020 Nov 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2006 Feb 1 [updated 2020 Nov 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301533 Free Books & Documents. Review.
89 results