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Genetic panels in young patients with bone marrow failure: are they clinically relevant?

作者信息

DeZern Amy E, Brodsky Robert A

机构信息

Division of Hematologic Malignancies; The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, MD, USA

Division of Hematology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

出版信息

Haematologica. 2016 Nov;101(11):1275-1276. doi: 10.3324/haematol.2016.152389.

DOI:10.3324/haematol.2016.152389
PMID:27799343
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5394880/
Abstract
摘要

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Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.儿童及青年患者骨髓增生异常综合征和再生障碍性贫血的遗传特征。
Haematologica. 2016 Nov;101(11):1343-1350. doi: 10.3324/haematol.2016.149476. Epub 2016 Jul 14.
2
Germline Mutations in Predisposition Genes in Pediatric Cancer.儿童癌症中易感基因的种系突变
N Engl J Med. 2015 Dec 10;373(24):2336-2346. doi: 10.1056/NEJMoa1508054. Epub 2015 Nov 18.
3
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.利用综合下一代测序技术提高遗传性骨髓衰竭综合征的诊断准确性、治疗及综合征定义。
J Med Genet. 2015 Sep;52(9):575-84. doi: 10.1136/jmedgenet-2015-103270. Epub 2015 Jul 1.
4
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.骨髓衰竭和骨髓增生异常综合征的基因组分析揭示了表型和诊断的复杂性。
Haematologica. 2015 Jan;100(1):42-8. doi: 10.3324/haematol.2014.113456. Epub 2014 Sep 19.
5
Detection of paroxysmal nocturnal hemoglobinuria clones to exclude inherited bone marrow failure syndromes.检测阵发性夜间血红蛋白尿克隆以排除遗传性骨髓衰竭综合征。
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Blood. 2013 May 9;121(19):3830-7, S1-7. doi: 10.1182/blood-2012-08-452763. Epub 2013 Mar 15.
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Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.从一个前瞻性的、全面的和基于人群的队列中对遗传性骨髓衰竭综合征进行遗传分析,并鉴定新的突变。
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Clinical and genetic analysis of unclassifiable inherited bone marrow failure syndromes.不可分类的遗传性骨髓衰竭综合征的临床与遗传学分析
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