21 例Aicardi-Goutières 综合征的临床表现和遗传学分析.
曾兰， 王锦， 朱会， 王齐艳， 朱书瑶… - Journal of …, 2023 - search.ebscohost.com
… with Aicardi -Goutières syndrome (AGS) diagnosed by gene sequencing were summarized.
Methods: Clinical data including the gene sequencing results of AGS patients meeting the …
Methods: Clinical data including the gene sequencing results of AGS patients meeting the …
[HTML][HTML] ADAR1相关神经系统疾病的遗传学机制与临床研究进展
李双， 王一， 王艺 - 2022 - jms.fudan.edu.cn
… system phenotype of Aicardi-Goutières syndrome (AGS), … , genetics, pathogenesis and
treatment of AGS type 6 caused … for diagnosis and treatment and further mechanism research. …
treatment of AGS type 6 caused … for diagnosis and treatment and further mechanism research. …
Klotho 抑制γ 型干擾素誘導之SAMHD1 表現於腎絲球系膜細胞中之研究
梁珊瑗 - 中山醫學大學生物醫學科學學系碩士班學位論文, 2017 - airitilibrary.com
… Mutations in SAMHD1 gene is associated with Aicardi–Goutières syndrome (AGS), a hereditary
… Pre-treatment of glomerular mesangial cells with recombinant Klotho suppressed IFNγ-…
… Pre-treatment of glomerular mesangial cells with recombinant Klotho suppressed IFNγ-…
Tau 在HLD1 小鼠受损少突胶质细胞中的异常表达
T Torii - 中国神经再生研究(英文版), 2024 - sjzsyj.com.cn
… (MS), and leukodystrophies including Aicardi-Goutières syndrome, adrenoleukodystrophy, …
analyzing the molecular pathogenesis of demyelination and establishing clinical treatment. …
analyzing the molecular pathogenesis of demyelination and establishing clinical treatment. …
Ⅰ 型干扰素相关肾脏损伤及诊治进展
安玉， 梁丹丹， 刘志红 - 肾脏病与透析肾移植杂志, 2023 - njcndt.com
… has provided us with new insight into precise diagnosis and treatment for these patients. …
from treatment⁃naïve lupus nephritis, but not in those under immunosuppressive treatment. …
from treatment⁃naïve lupus nephritis, but not in those under immunosuppressive treatment. …
[HTML][HTML] Ⅰ 型干扰素相关肾病
康梅子， 刘亚伟， 戴兵 - 海军军医大学学报, 2023 - html.rhhz.net
… 近年来亦有报道称在脊椎软骨发育不良 [8] ,Aicardi-Goutières综合征(Aicardi-Goutières
syndrome,AGS) [9] ,STING相关的婴儿期发病血管病变(stimulator of interferon gene-associated …
syndrome,AGS) [9] ,STING相关的婴儿期发病血管病变(stimulator of interferon gene-associated …
[HTML][HTML] 儿童脑白质营养不良的临床遗传学研究进展
黄喆兰， 周文浩 - Chinese Journal of Contemporary Pediatrics, 2022 - ncbi.nlm.nih.gov
… 髓鞘形成障碍是指形成的髓鞘定位异常或功能异常，如亚历山大病（Alexander disease，AxD）、伴
皮质下囊肿的巨脑性白质脑病、Aicardi-Goutières综合征等。以常染色体显性遗传的AxD为例，…
皮质下囊肿的巨脑性白质脑病、Aicardi-Goutières综合征等。以常染色体显性遗传的AxD为例，…
警惕儿童自身免疫性脑炎诊治陷阱
张炜华， 邹丽萍， 任海涛， 关鸿志 - 临床儿科杂志, 2023 - jcp.xinhuamed.com.cn
… treatment face greater challenges. This article will summarize the diagnosis and treatment
… The related pitfalls of diagnosis and treatment are interpreted and analyzed in order to help …
… The related pitfalls of diagnosis and treatment are interpreted and analyzed in order to help …
基因测序技术在单基因狼疮精准诊断和机制研究中的应用现状
杨智博， 刘力 - 临床儿科杂志, 2023 - jcp.xinhuamed.com.cn
… diagnostic markers and formulate more personalized treatments, and also to provide possible
… Analysis of clinical characteristics of children with aicardi-goutieres syndrome in China [J]. …
… Analysis of clinical characteristics of children with aicardi-goutieres syndrome in China [J]. …
特殊类型系统性红斑狼疮致病基因研究
彭嘉惠， 张昌明， 刘志红 - 肾脏病与透析肾移植杂志, 2021 - njcndt.com
… jSLE; CVID AD:常染色体显性遗传;AGS:Aicardi⁃Goutières 综合症;ALPS:自身免疫性淋巴组织
… TREX1 突变可导致不同的临床表型,包括 Aicardi⁃Goutières综合症(AGS),家族性冻疮样红斑 …
… TREX1 突变可导致不同的临床表型,包括 Aicardi⁃Goutières综合症(AGS),家族性冻疮样红斑 …