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Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia autism and mental retardation

机译：在精神分裂症自闭症和精神病迟缓中的突触和神经发育基因和共享生物途径的复发重排

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ContextComparative genomic hybridization (array-CGH) studies have suggested that rare copy number variations (CNVs) at numerous loci are involved in the etiology of mental retardation (MR), autism spectrum disorders (ASD) and schizophrenia.

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作者
Audrey Guilmatre; Christèle Dubourg; Anne-Laure Mosca; Solenn Legallic; Alice Goldenberg; Valérie Drouin-Garraud; Valérie Layet; Antoine Rosier; Sylvain Briault; Frédérique Bonnet-Brilhault; Frédéric Laumonnier; Sylvie Odent; Gael Le Vacon; Géraldine Joly-Helas; Véronique David; Claude Bendavid; Jean-Michel Pinoit; Céline Henry; Caterina Impallomeni; Eva Germano; Gaetano Tortorella; Gabriella Di Rosa; Catherine Barthelemy; Christian Andres; Laurence Faivre; Thierry Frébourg; Pascale Saugier Veber; Dominique Campion;
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年(卷),期 -1(66),9
年度 -1
页码 947–956
总页数 11
原文格式 PDF
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关键词
Adolescent Adult Autistic Disorder diagnosis genetics Case-Control Studies Chromosome Mapping statistics numerical data Comparative Genomic Hybridization statistics numerical data Female Gene Dosage genetics Gene Frequency Genotype Humans In Situ Hybridization Fluorescence statistics numerical data Male Mental Retardation diagnosis genetics Neurogenesis Oligonucleotide Array Sequence Analysis Proline blood Psychotic Disorders diagnosis genetics Schizophrenia diagnosis genetics;

机译：青少年;成人;自闭症;诊断;遗传学;病例对照研究;染色体作图;统计和数值数据;比较基因组杂交;统计和数值数据;女性;基因剂量;遗传学;基因频率;基因型;人类;原位杂交;荧光;统计和数值数据;男性;智力低下;诊断;遗传学;神经发生;寡核苷酸阵列序列分析;脯氨酸;血液;精神病;诊断;遗传学;精神分裂症;诊断;遗传学;

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专利

1. Interaction of neurodevelopmental pathways and synaptic plasticity in mental retardation, autism spectrum disorder and schizophrenia: Implications for psychiatry [J] . Waltereit Robert, Banaschewski Tobias, Meyer-Lindenberg Andreas, The world journal of biological psychiatry: the official journal of the World Federation of Societies of Biological Psychiatry . 2014,第7a8期

机译：神经发育途径和突触可塑性在智力低下，自闭症谱系障碍和精神分裂症中的相互作用：对精神病学的影响
2. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. [J] . Berkel S, Marshall CR, Weiss B, Nature Genetics . 2010,第6期

机译：自闭症谱系障碍和智力低下的SHANK2突触支架基因的突变。
3. The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability [J] . Forrest Marc P., Hill Matthew J., Kavanagh David H., Schizophrenia bulletin . 2018,第5期

机译：精神病风险基因转录因子4（TCF4）调节与精神分裂症，自闭症和智力残疾相关的神经发育途径
4. An NLP-Based 3D Scene Generation System forChildren with Autism or Mental Retardation [C] . Yilmaz Kilicaslan, OEzlem Ucar, Edip Serdar Guener Artificial Intelligence and Soft Computing - ICAISC 2008 . 2008

机译：基于NLP的自闭症或智障儿童3D场景生成系统
5. A more general role for the fragile X mental retardation protein in pruning of both synaptic and dendritic processes [D] . Galvez, Roberto 2004

机译：脆弱的X智力低下蛋白在突触和树突过程的修剪中具有更一般的作用
6. Modulation of dendritic spine development and plasticity by BDNF and vesicular trafficking: fundamental roles in neurodevelopmental disorders associated with mental retardation and autism [O] . Christopher A. Chapleau, Jennifer L. Larimore, Anne Theibert, 2009

机译：BDNF和水泡运输对树突棘发育和可塑性的调节：在与智力低下和自闭症相关的神经发育障碍中的基本作用
7. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. [O] . Guilmatre, Audrey, Dubourg, Christèle, Mosca, Anne-Laure, 2009

机译：突触和神经发育基因的反复重排以及精神分裂症，自闭症和智力低下的共同生物学途径。

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia autism and mental retardation

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