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hereditary persistence of fetal hemoglobin相关文献:
β-Thalassemias.
Taher AT, Musallam KM, Cappellini MD.
N Engl J Med. 2021 Feb 25;384(8):727-743. doi: 10.1056/NEJMra2021838.
PMID:33626255
Direct Promoter Repression by BCL11A Controls the Fetal to Adult Hemoglobin Switch.
Liu N, Hargreaves VV, Zhu Q, Kurland JV, Hong J, Kim W, Sher F, Macias-Trevino C, Rogers JM, Kurita R, Nakamura Y, Yuan GC, Bauer DE, Xu J, Bulyk ML, Orkin SH.
Cell. 2018 Apr 5;173(2):430-442.e17. doi: 10.1016/j.cell.2018.03.016. Epub 2018 Mar 29.
PMID:29606353
Base-editing-mediated dissection of a gamma-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression.
Antoniou P, Hardouin G, Martinucci P, Frati G, Felix T, Chalumeau A, Fontana L, Martin J, Masson C, Brusson M, Maule G, Rosello M, Giovannangeli C, Abramowski V, de Villartay JP, Concordet JP, Del Bene F, El Nemer W, Amendola M, Cavazzana M, Cereseto A, Romano O, Miccio A.
Nat Commun. 2022 Nov 4;13(1):6618. doi: 10.1038/s41467-022-34493-1.
PMID:36333351
Interpreting elevated fetal hemoglobin in pathology and health at the basic laboratory level: new and known gamma- gene mutations associated with hereditary persistence of fetal hemoglobin.
Amato A, Cappabianca MP, Perri M, Zaghis I, Grisanti P, Ponzini D, Di Biagio P.
Int J Lab Hematol. 2014 Feb;36(1):13-9. doi: 10.1111/ijlh.12094. Epub 2013 Apr 29.
PMID:23621512
β-Thalassemias.
Thong MK, Ngim CF.
N Engl J Med. 2021 Jun 3;384(22):2165. doi: 10.1056/NEJMc2105064.
PMID:34077655
Beta-thalassemia.
Rund D, Rachmilewitz E.
N Engl J Med. 2005 Sep 15;353(11):1135-46. doi: 10.1056/NEJMra050436.
PMID:16162884
Compound heterozygosity for Southeast Asian hereditary persistence of fetal hemoglobin and beta0-thalassemia results in thalassemia intermedia: Pedigree analysis and genetic research in a family from South China. A case report.
Wang G, Deng H, Peng P, Zheng H, Tian B, Zhu C.
Medicine (Baltimore). 2024 Mar 8;103(10):e37446. doi: 10.1097/MD.0000000000037446.
PMID:38457547
The beta-thalassemias.
Olivieri NF.
N Engl J Med. 1999 Jul 8;341(2):99-109. doi: 10.1056/NEJM199907083410207.
PMID:10395635
Genotypic-phenotypic heterogeneity of deltabeta-thalassemia and hereditary persistence of fetal hemoglobin (HPFH) in India.
Hariharan P, Kishnani P, Sawant P, Gorivale M, Mehta P, Kargutkar N, Colah R, Nadkarni A.
Ann Hematol. 2020 Jul;99(7):1475-1483. doi: 10.1007/s00277-020-04081-8. Epub 2020 Jun 10.
PMID:32524201
Featured Article: Modulation of fetal hemoglobin in hereditary persistence of fetal hemoglobin deletion type-2, compared to Sicilian deltabeta-thalassemia, by BCL11A and SOX6-targeting microRNAs.
Fornari TA, Lanaro C, Albuquerque DM, Ferreira R, Costa FF.
Exp Biol Med (Maywood). 2017 Feb;242(3):267-274. doi: 10.1177/1535370216668052. Epub 2016 Oct 4.
PMID:27591578
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