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Chiari Malformation Type 1 in EPAS1-Associated Syndrome.
Rosenblum JS, Maggio D, Pang Y, Nazari MA, Gonzales MK, Lechan RM, Smirniotopoulos JG, Zhuang Z, Pacak K, Heiss JD. Rosenblum JS, et al. Int J Mol Sci. 2019 Jun 10;20(11):2819. doi: 10.3390/ijms20112819. Int J Mol Sci. 2019. PMID: 31185588 Free PMC article.
Neuraxial dysraphism in EPAS1-associated syndrome due to improper mesenchymal transition.
Rosenblum JS, Cappadona AJ, Argersinger DP, Pang Y, Wang H, Nazari MA, Munasinghe JP, Donahue DR, Jha A, Smirniotopoulos JG, Miettinen MM, Knutsen RH, Kozel BA, Zhuang Z, Pacak K, Heiss JD. Rosenblum JS, et al. Neurol Genet. 2020 Apr 1;6(3):e414. doi: 10.1212/NXG.0000000000000414. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32337341 Free PMC article.
Somatic SF3B1 hotspot mutation in prolactinomas.
Li C, Xie W, Rosenblum JS, Zhou J, Guo J, Miao Y, Shen Y, Wang H, Gong L, Li M, Zhao S, Cheng S, Zhu H, Jiang T, Ling S, Wang F, Zhang H, Zhang M, Qu Y, Zhang Q, Li G, Wang J, Ma J, Zhuang Z, Zhang Y. Li C, et al. Among authors: rosenblum js. Nat Commun. 2020 May 19;11(1):2506. doi: 10.1038/s41467-020-16052-8. Nat Commun. 2020. PMID: 32427851 Free PMC article.
Developmental vascular malformations in EPAS1 gain-of-function syndrome.
Rosenblum JS, Wang H, Dmitriev PM, Cappadona AJ, Mastorakos P, Xu C, Jha A, Edwards N, Donahue DR, Munasinghe J, Nazari MA, Knutsen RH, Rosenblum BR, Smirniotopoulos JG, Pappo A, Spetzler RF, Vortmeyer A, Gilbert MR, McGavern DB, Chew E, Kozel BA, Heiss JD, Zhuang Z, Pacak K. Rosenblum JS, et al. Among authors: rosenblum br. JCI Insight. 2021 Mar 8;6(5):e144368. doi: 10.1172/jci.insight.144368. JCI Insight. 2021. PMID: 33497361 Free PMC article.
SMARCB1 deletion in atypical teratoid rhabdoid tumors results in human endogenous retrovirus K (HML-2) expression.
Doucet-O'Hare TT, DiSanza BL, DeMarino C, Atkinson AL, Rosenblum JS, Henderson LJ, Johnson KR, Kowalak J, Garcia-Montojo M, Allen SJ, Orr BA, Santi M, Wang T, Fathi S, Lee MH, Sampson K, Li W, Zhuang Z, Nath A. Doucet-O'Hare TT, et al. Among authors: rosenblum js. Sci Rep. 2021 Jun 18;11(1):12893. doi: 10.1038/s41598-021-92223-x. Sci Rep. 2021. PMID: 34145313 Free PMC article.
355 results