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Case report: Refractory Evans syndrome in two patients with spondyloenchondrodysplasia with immune dysregulation treated successfully with JAK1/JAK2 inhibition.
Gernez Y, Narula M, Cepika AM, Valdes Camacho J, Hoyte EG, Mouradian K, Glader B, Singh D, Sathi B, Rao L, Tolin AL, Weinberg KI, Lewis DB, Bacchetta R, Weinacht KG. Gernez Y, et al. Among authors: glader b. Front Immunol. 2024 Jan 29;14:1328005. doi: 10.3389/fimmu.2023.1328005. eCollection 2023. Front Immunol. 2024. PMID: 38347954 Free PMC article. Review.
Diagnosis and management of pyruvate kinase deficiency: international expert guidelines.
Al-Samkari H, Shehata N, Lang-Robertson K, Bianchi P, Glenthøj A, Sheth S, Neufeld EJ, Rees DC, Chonat S, Kuo KHM, Rothman JA, Barcellini W, van Beers EJ, Pospíšilová D, Shah AJ, van Wijk R, Glader B, Mañú Pereira MDM, Andres O, Kalfa TA, Eber SW, Gallagher PG, Kwiatkowski JL, Galacteros F, Lander C, Watson A, Elbard R, Peereboom D, Grace RF. Al-Samkari H, et al. Among authors: glader b. Lancet Haematol. 2024 Mar;11(3):e228-e239. doi: 10.1016/S2352-3026(23)00377-0. Epub 2024 Feb 5. Lancet Haematol. 2024. PMID: 38330977 Review.
Animal models of Diamond-Blackfan anemia: updates and challenges.
Liu YL, Shibuya A, Glader B, Wilkes MC, Barna M, Sakamoto KM. Liu YL, et al. Among authors: glader b. Haematologica. 2023 May 1;108(5):1222-1231. doi: 10.3324/haematol.2022.282042. Haematologica. 2023. PMID: 36384250 Free PMC article. Review.
Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1.
Ludwig LS, Lareau CA, Bao EL, Liu N, Utsugisawa T, Tseng AM, Myers SA, Verboon JM, Ulirsch JC, Luo W, Muus C, Fiorini C, Olive ME, Vockley CM, Munschauer M, Hunter A, Ogura H, Yamamoto T, Inada H, Nakagawa S, Ohzono S, Subramanian V, Chiarle R, Glader B, Carr SA, Aryee MJ, Kundaje A, Orkin SH, Regev A, McCavit TL, Kanno H, Sankaran VG. Ludwig LS, et al. Among authors: glader b. Blood. 2022 Apr 21;139(16):2534-2546. doi: 10.1182/blood.2021013753. Blood. 2022. PMID: 35030251 Free PMC article.
Who should be eligible for gene therapy clinical trials in red blood cell pyruvate kinase deficiency (PKD)?: Toward an expanded definition of severe PKD.
Schwartz JD, Barcellini W, Grace RF, Bianchi P, Zanella A, López Lorenzo JL, Sevilla J, Shah AJ, Glader B, Nicoletti E, Navarro Ordoñez S, Segovia JC. Schwartz JD, et al. Among authors: glader b. Am J Hematol. 2022 Mar 1;97(3):E120-E125. doi: 10.1002/ajh.26458. Epub 2022 Jan 24. Am J Hematol. 2022. PMID: 34989415 Free PMC article. Review. No abstract available.
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
Heeney MM, Berhe S, Campagna DR, Oved JH, Kurre P, Shaw PJ, Teo J, Shanap MA, Hassab HM, Glader BE, Shah S, Yoshimi A, Ameri A, Antin JH, Boudreaux J, Briones M, Dickerson KE, Fernandez CV, Farah R, Hasle H, Keel SB, Olson TS, Powers JM, Rose MJ, Shimamura A, Bottomley SS, Fleming MD. Heeney MM, et al. Among authors: glader be. Hum Mutat. 2021 Nov;42(11):1367-1383. doi: 10.1002/humu.24267. Epub 2021 Aug 5. Hum Mutat. 2021. PMID: 34298585 Free PMC article. Review.
147 results