日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A

RPL35A致病变异引起的Diamond-Blackfan贫血的基因型-表型关联及变异特征分析

期刊:Haematologica
影响因子:7.9
doi:10.3324/haematol.2020.246629
Gianferante, Matthew D; Wlodarski, Marcin W; Atsidaftos, Evangelia; Da Costa, Lydie; Delaporta, Polyxeni; Farrar, Jason E; Goldman, Frederick D; Hussain, Maryam; Kattamis, Antonis; Leblanc, Thierry; Lipton, Jeffrey M; Niemeyer, Charlotte M; Pospisilova, Dagmar; Quarello, Paola; Ramenghi, Ugo; Sankaran, Vijay G; Vlachos, Adrianna; Volejnikova, Jana; Alter, Blanche P; Savage, Sharon A; Giri, Neelam
贫血
代谢
发表日期：2021
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L-leucine improves anemia and growth in patients with transfusion-dependent Diamond-Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond-Blackfan Anemia Registry

L-亮氨酸可改善输血依赖型Diamond-Blackfan贫血患者的贫血和生长发育：来自Diamond-Blackfan贫血登记处的一项多中心I/II期试点研究的结果

期刊:Pediatric Blood & Cancer
影响因子:2.3
doi:10.1002/pbc.28748
Vlachos, Adrianna; Atsidaftos, Evangelia; Lababidi, Mohammad Lutfi; Muir, Ellen; Rogers, Zora R; Alhushki, Waseem; Bernstein, Jonathan; Glader, Bertil; Gruner, Barbara; Hartung, Helge; Knoll, Christine; Loew, Thomas; Nalepa, Grzegorz; Narla, Anupama; Panigrahi, Arun R; Sieff, Colin A; Walkovich, Kelly; Farrar, Jason E; Lipton, Jeffrey M
发育与干细胞
贫血
代谢
发表日期：2020
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Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population: A Report of the Diamond Blackfan Anemia Registry

戴蒙德-布莱克范贫血症患儿先天性心脏病患病率增加提示，戴蒙德-布莱克范贫血症可能未被充分认识，并可能成为普通人群中先天性心脏病的一个病因：戴蒙德-布莱克范贫血症登记报告

期刊:Circulation-Genomic and Precision Medicine
影响因子:5.5
doi:10.1161/CIRCGENETICS.117.002044
Vlachos, Adrianna; Osorio, Diana S; Atsidaftos, Evangelia; Kang, Jessica; Lababidi, Mohammad Lutfi; Seiden, Howard S; Gruber, Dorota; Glader, Bertil E; Onel, Kenan; Farrar, Jason E; Bodine, David M; Aspesi, Anna; Dianzani, Irma; Ramenghi, Ugo; Ellis, Steven R; Lipton, Jeffrey M
心脏病
心血管
贫血
代谢
发表日期：2018
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Molecular convergence in ex vivo models of Diamond-Blackfan anemia

Diamond-Blackfan 贫血症体外模型中的分子融合

期刊:Blood
影响因子:21
doi:10.1182/blood-2017-01-760462
Kelly A O'Brien, Jason E Farrar, Adrianna Vlachos, Stacie M Anderson, Crystiana A Tsujiura, Jens Lichtenberg, Lionel Blanc, Eva Atsidaftos, Abdel Elkahloun, Xiuli An, Steven R Ellis, Jeffrey M Lipton, David M Bodine
心血管
贫血
发表日期：2017
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Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR)

Diamond-Blackfan贫血（DBA）的内分泌功能障碍：来自DBA注册中心（DBAR）的报告

期刊:Pediatric Blood & Cancer
影响因子:2.3
doi:10.1002/pbc.25780
Lahoti, Amit; Harris, Yael T; Speiser, Phyllis W; Atsidaftos, Evangelia; Lipton, Jeffrey M; Vlachos, Adrianna
贫血
代谢
发表日期：2016
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Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis

利用前 rRNA 处理来发现和诊断 Diamond Blackfan 贫血症基因

期刊:American Journal of Hematology
影响因子:10.1
doi:10.1002/ajh.23807
Jason E Farrar, Paola Quarello, Ross Fisher, Kelly A O'Brien, Anna Aspesi, Sara Parrella, Adrianna L Henson, Nancy E Seidel, Eva Atsidaftos, Supraja Prakash, Shahla Bari, Emanuela Garelli, Robert J Arceci, Irma Dianzani, Ugo Ramenghi, Adrianna Vlachos, Jeffrey M Lipton, David M Bodine, Steven R Elli
代谢
贫血
发表日期：2014
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Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia

通过阵列比较基因组杂交技术在Diamond-Blackfan贫血症中发现了一种新的RPL15基因缺失

期刊:Human Genetics
影响因子:3.6
doi:10.1007/s00439-013-1326-z
Landowski, Michael; O'Donohue, Marie-Françoise; Buros, Christopher; Ghazvinian, Roxanne; Montel-Lehry, Nathalie; Vlachos, Adrianna; Sieff, Colin A; Newburger, Peter E; Niewiadomska, Edyta; Matysiak, Michal; Glader, Bertil; Atsidaftos, Eva; Lipton, Jeffrey M; Beggs, Alan H; Gleizes, Pierre-Emmanuel; Gazda, Hanna T
贫血
代谢
发表日期：2013
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Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry

Diamond-Blackfan贫血症患者的肿瘤发生率：来自Diamond-Blackfan贫血症登记处的报告

期刊:Blood
影响因子:23.1
doi:10.1182/blood-2011-08-375972
Vlachos, Adrianna; Rosenberg, Philip S; Atsidaftos, Eva; Alter, Blanche P; Lipton, Jeffrey M
肿瘤
贫血
肿瘤免疫
代谢
发表日期：2012
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Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

p53 调节器 RPL26 的移码突变与钻石-黑凡贫血中的多种身体异常和特定的前核糖体 RNA 加工缺陷有关

期刊:Human Mutation
影响因子:3.3
doi:10.1002/humu.22081
Hanna T Gazda, Milena Preti, Mee Rie Sheen, Marie-Françoise O'Donohue, Adrianna Vlachos, Stella M Davies, Antonis Kattamis, Leana Doherty, Michael Landowski, Christopher Buros, Roxanne Ghazvinian, Colin A Sieff, Peter E Newburger, Edyta Niewiadomska, Michal Matysiak, Bertil Glader, Eva Atsidaftos, J
代谢
贫血
发表日期：2012
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Ribosomal protein gene deletions in Diamond-Blackfan anemia

Diamond-Blackfan 贫血症中的核糖体蛋白基因缺失

期刊:Blood
影响因子:21
doi:10.1182/blood-2011-08-375170
Jason E Farrar, Adrianna Vlachos, Eva Atsidaftos, Hannah Carlson-Donohoe, Thomas C Markello, Robert J Arceci, Steven R Ellis, Jeffrey M Lipton, David M Bodine
心血管
贫血
发表日期：2011
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