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Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency and a patent foramen ovale.一名伴有抗凝血酶缺乏症和卵圆孔未闭的中风患者，同时存在涉及 1q24.2q25.2 区的中间缺失和 10q26 区的倒位重复及缺失的两条染色体异常。
Am J Med Genet A. 2011 Jan;155A(1):215-20. doi: 10.1002/ajmg.a.33786.
2
Clinical management of Rendu-Osler-Weber syndrome and genetic thrombophilia.遗传性出血性毛细血管扩张症与遗传性易栓症的临床管理
Blood Coagul Fibrinolysis. 2009 Dec;20(8):733. doi: 10.1097/MBC.0b013e32832f42e8.
3
Prothrombotic mutations as risk factors for cryptogenic ischemic cerebrovascular events in young subjects with patent foramen ovale.在患有卵圆孔未闭的年轻受试者中，血栓前突变作为不明原因缺血性脑血管事件的危险因素。
Stroke. 2007 Jul;38(7):2070-3. doi: 10.1161/STROKEAHA.106.480863. Epub 2007 May 24.
4
Matched case-control study on factor V Leiden and the prothrombin G20210A mutation in patients with ischemic stroke/transient ischemic attack up to the age of 60 years.60岁及以下缺血性中风/短暂性脑缺血发作患者中凝血因子V莱顿突变和凝血酶原G20210A突变的配对病例对照研究。
Stroke. 2005 Jul;36(7):1405-9. doi: 10.1161/01.STR.0000170635.45745.b8. Epub 2005 Jun 9.
5
Factor V Leiden and prothrombin G20210A mutations in young adults with cryptogenic ischemic stroke.不明原因缺血性卒中年轻患者中的凝血因子V莱顿突变和凝血酶原G20210A突变
Thromb Haemost. 2004 May;91(5):1031-4. doi: 10.1160/TH03-11-0690.
6
Prothrombin G20210A mutation, but not factor V Leiden, is a risk factor in patients with persistent foramen ovale and otherwise unexplained cerebral ischemia.凝血酶原G20210A突变而非因子V莱顿突变是卵圆孔未闭且存在其他不明原因脑缺血患者的一个危险因素。
Cerebrovasc Dis. 2003;16(1):83-7. doi: 10.1159/000070120.
7
Factor V Leiden and prothrombin gene mutation may predispose to paradoxical embolism in subjects with patent foramen ovale.因子V莱顿突变和凝血酶原基因突变可能使卵圆孔未闭患者易发生反常栓塞。
Blood Coagul Fibrinolysis. 2003 Apr;14(3):261-8. doi: 10.1097/01.mbc.0000061288.28953.c8.
8
Inherited thrombophilic disorders in young adults with ischemic stroke and patent foramen ovale.患有缺血性中风和卵圆孔未闭的年轻成年人的遗传性血栓形成倾向疾病
Stroke. 2003 Jan;34(1):28-33. doi: 10.1161/01.str.0000046457.54037.cc.
9
Hereditary hemorrhagic telangiectasia, factor V Leiden and antiphospholipid syndrome: a case report.遗传性出血性毛细血管扩张症、凝血因子V莱顿突变和抗磷脂综合征：一例报告
Blood Coagul Fibrinolysis. 2002 Jan;13(1):53-6. doi: 10.1097/00001721-200201000-00008.
10
Pulmonary arteriovenous malformations: cerebral ischemia and neurologic manifestations.肺动静脉畸形：脑缺血与神经学表现
Neurology. 2000 Oct 10;55(7):959-64. doi: 10.1212/wnl.55.7.959.

Cerebrovascular Events Secondary to Pulmonary Arteriovenous Malformation Based on Genetic Heterogeneity.

作者信息

Çelik Güner, Yurdakul Hüseyin, Yildirim Erkan

机构信息

Department of Neurology, Başkent University School of Medicine, Konya, Turkey.

Department of Genetics, The Center for Diagnosis of Genetic Diseases, Konya, Turkey.

出版信息

Noro Psikiyatr Ars. 2017 Sep;54(3):286-287. doi: 10.5152/npa.2016.16997. Epub 2016 Sep 20.

DOI:10.5152/npa.2016.16997
PMID:29033646
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5630112/
Abstract
摘要