Clinical utility gene card for: Diamond Blackfan anemia.
作者信息
Vlachos Adrianna, Dahl Niklas, Dianzani Irma, Lipton Jeffrey M
机构信息
Feinstein Institute for Medical Research, Hofstra North Shore-LIJ School of Medicine, Division of Hematology/Oncology and Stem Cell Transplantation, Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, NY 11040, USA.
出版信息
Eur J Hum Genet. 2011 May;19(5). doi: 10.1038/ejhg.2010.247. Epub 2011 Jan 19.
Abstract
摘要
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本文引用的文献
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The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Diamond-Blackfan 贫血的核糖体基础：突变和数据库更新。
Hum Mutat. 2010 Dec;31(12):1269-79. doi: 10.1002/humu.21383.
2
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.核糖体蛋白基因 RPS10 和 RPS26 常发生突变导致 Diamond-Blackfan 贫血。
Am J Hum Genet. 2010 Feb 12;86(2):222-8. doi: 10.1016/j.ajhg.2009.12.015. Epub 2010 Jan 28.
3
Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. Diamond-Blackfan 贫血：RPL5 和 RPL11 突变的意大利患者的基因型-表型相关性。
Haematologica. 2010 Feb;95(2):206-13. doi: 10.3324/haematol.2009.011783. Epub 2009 Sep 22.
4
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.核糖体蛋白L5和L11突变与钻石黑范贫血患者的腭裂和拇指异常有关。
Am J Hum Genet. 2008 Dec;83(6):769-80. doi: 10.1016/j.ajhg.2008.11.004.
5
Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency.多重连接依赖探针扩增技术增强了对因RPS19缺陷导致的先天性纯红细胞再生障碍性贫血的分子诊断。
Haematologica. 2008 Nov;93(11):1748-50. doi: 10.3324/haematol.13423. Epub 2008 Oct 2.
6
A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.一个用于存储在先天性纯红细胞再生障碍性贫血中发生突变的核糖体蛋白基因的新数据库。
Hum Mutat. 2008 Nov;29(11):E263-70. doi: 10.1002/humu.20864.
7
Establishing the role of pre-implantation genetic diagnosis with human leucocyte antigen typing: what place do "saviour siblings" have in paediatric transplantation?确定植入前基因诊断与人类白细胞抗原分型的作用：“救星同胞”在儿科移植中处于什么地位？
Arch Dis Child. 2009 Apr;94(4):317-20. doi: 10.1136/adc.2008.138529. Epub 2008 Aug 6.
8
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.诊断与治疗先天性纯红细胞再生障碍性贫血：国际临床共识会议结果
Br J Haematol. 2008 Sep;142(6):859-76. doi: 10.1111/j.1365-2141.2008.07269.x. Epub 2008 Jul 30.
9
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia.大核糖体亚基蛋白Rpl35a在先天性纯红细胞再生障碍性贫血中的异常情况。
Blood. 2008 Sep 1;112(5):1582-92. doi: 10.1182/blood-2008-02-140012. Epub 2008 Jun 5.
10
RPS19 mutations in patients with Diamond-Blackfan anemia.先天性纯红细胞再生障碍性贫血患者中的核糖体蛋白S19突变
Hum Mutat. 2008 Jul;29(7):911-20. doi: 10.1002/humu.20752.
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