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Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report

机译：染色质组织的破坏导致智力障碍中MEF2C基因过表达：一例病例报告

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BackgroundBalanced structural variants are mostly described in disease with gene disruption or subtle rearrangement at breakpoints.

机译：背景平衡结构变异大多描述于疾病中，其基因断裂或在断点处有微妙的重排。

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期刊名称 BMC Medical Genomics
作者
Kevin Yauy; Anouck Schneider; Bee Ling Ng; Jean-Baptiste Gaillard; Satish Sati; Christine Coubes; Constance Wells; Magali Tournaire; Thomas Guignard; Pauline Bouret; David Geneviève; Jacques Puechberty; Franck Pellestor; Vincent Gatinois;
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年(卷),期 2019(12),-1
年度 2019
页码 116
总页数 6
原文格式 PDF
正文语种
中图分类遗传学;
关键词
Intellectual disability (ID) Topologically associated domains (TAD) MEF2C;

机译：智力障碍（ID）;拓扑相关域（TAD）;MEF2C;

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专利

1. Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report [J] . Kevin Yauy, Anouck Schneider, Bee Ling Ng, BMC Medical Genomics . 2019,第1期

机译：染色质组织的破坏导致智力障碍中MEF2C基因的过表达：一例病例报告
2. MISSENSE MUTATIONS DISRUPTING THE HELICASE DOMAIN OF CHROMATIN REMODELLER CHD3 CAUSE A NOVEL NEURODEVELOPMENTAL SYNDROME WITH INTELLECTUAL DISABILITY, MACROCEPHALY AND IMPAIRED SPEECH AND LANGUAGE [J] . Blok L. S., Rousseau J., Twist J., American journal of medical genetics, Part A . 2019,第4期

机译：断阵突变破坏染色质Remodeller CHD3的螺旋酶结构域，导致具有智力残疾，古代畸形和言语和语言受损的新型神经发育综合征
3. MeCP2 AT‐Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro [J] . Sheikh Taimoor I., Harripaul Ricardo, Ayub Muhammad, Human mutation . 2018,第5期

机译：智障残疾患者的MECP2 AT-HOOK1突变和/或精神分裂症中断DNA结合和染色质压实体外
4. Identification of gene regulatory networks by strategic gene disruptions and gene overexpressions [C] . Tatsuya Akutsu, Satoru Kuhara, Osamu Maruyama, Annual ACM-SIAM symposium on Discrete algorithms;ACM-SIAM symposium on Discrete algorithms . 1998

机译：通过战略性基因破坏和基因过表达鉴定基因调控网络
5. Differential Item Functioning and Measurement Invariance of Self- and Proxy- Reports: An Evaluation of Objective Quality of Life Measures for People with Intellectual and Developmental Disabilities [D] . Hepperlen, Renee A. 2015

机译：自我和代理人报告的差分项目功能和测量不变性：对具有智力和发展残疾人的人们生活措施的客观质量评估
6. Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability [O] . Tjitske Kleefstra, Jamie M. Kramer, Kornelia Neveling, 2012

机译：与EHMT1相关的染色质修饰模块的破坏导致智力残疾
7. Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability [O] . Kleefstra Tjitske, Kramer Jamie M., Neveling Kornelia, 2012

机译：与EHMT1相关的染色质修饰模块的破坏导致智力残疾

Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report

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