• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.智力发育迟缓儿童基因组失衡的寡核苷酸微阵列分析
Am J Hum Genet. 2006 Sep;79(3):500-13. doi: 10.1086/507471. Epub 2006 Jul 25.
2
Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features.全基因组阵列比较基因组杂交技术鉴定出与发育迟缓、智力障碍和畸形特征相关的新型连续性基因缺失和重复。
Am J Med Genet A. 2007 Jul 1;143A(13):1431-41. doi: 10.1002/ajmg.a.31773.
3
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays.使用100K单核苷酸多态性阵列对智力障碍患者进行分子核型分析。
J Med Genet. 2007 Oct;44(10):629-36. doi: 10.1136/jmg.2007.050914. Epub 2007 Jun 29.
4
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.采用 500 K SNP 阵列基因组杂交技术检测特发性智力障碍儿童的致病性拷贝数变异。
BMC Genomics. 2009 Nov 16;10:526. doi: 10.1186/1471-2164-10-526.
5
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features.基于微阵列的比较基因组杂交技术（阵列比较基因组杂交，array-CGH）可检测学习障碍/智力迟钝及畸形特征患者的亚显微染色体缺失和重复。
J Med Genet. 2004 Apr;41(4):241-8. doi: 10.1136/jmg.2003.017731.
6
[Genomic abnormalities in children with mental retardation and autism: the use of comparative genomic hybridization in situ (HRCGH) and molecular karyotyping with DNA-microchips (array CGH)].[智力发育迟缓与自闭症儿童的基因组异常：原位比较基因组杂交（HRCGH）及DNA芯片分子核型分析（阵列比较基因组杂交）的应用]
Zh Nevrol Psikhiatr Im S S Korsakova. 2013;113(8):46-9.
7
An oligonucleotide based array-CGH system for detection of genome wide copy number changes including subtelomeric regions for genetic evaluation of mental retardation.一种基于寡核苷酸的阵列比较基因组杂交系统，用于检测全基因组范围内的拷贝数变化，包括亚端粒区域，以进行智力迟钝的基因评估。
Am J Med Genet A. 2007 Apr 15;143A(8):824-9. doi: 10.1002/ajmg.a.31656.
8
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.比较基因组范围的阵列基因组杂交平台在特发性智力障碍的拷贝数变异检测中的应用。
BMC Med Genomics. 2011 Mar 25;4:25. doi: 10.1186/1755-8794-4-25.
9
A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.针对智力障碍和/或多发性先天畸形患者的新型诊断工作流程：先进行检测阵列。
Eur J Hum Genet. 2009 Nov;17(11):1394-402. doi: 10.1038/ejhg.2009.74. Epub 2009 May 13.
10
Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation.采用全基因组阵列比较基因组杂交技术检测智力发育迟缓儿童的亚显微染色体失衡
Cytogenet Genome Res. 2007;118(1):1-7. doi: 10.1159/000106434.

引用本文的文献

1
Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil.识别智力残疾患者的遗传病因：巴西东北部公共卫生服务的一项经验。
J Pediatr Genet. 2022 Nov 14;13(2):90-98. doi: 10.1055/s-0042-1757888. eCollection 2024 Jun.
2
Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.严重型腓骨肌萎缩症 1 型中转录后 microRNA 对 PMP22 剂量的抑制作用。
Brain. 2023 Oct 3;146(10):4025-4032. doi: 10.1093/brain/awad203.
3
A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification.一种与家族性综合征性角膜混浊相关的新型 13q12 微缺失。
Genes (Basel). 2023 May 1;14(5):1034. doi: 10.3390/genes14051034.
4
NRXN1 depletion in the medial prefrontal cortex induces anxiety-like behaviors and abnormal social phenotypes along with impaired neurite outgrowth in rat.内侧前额叶皮质中 NRXN1 的耗竭会导致大鼠出现类似焦虑的行为和异常的社会表型，同时伴随着神经突生长受损。
J Neurodev Disord. 2023 Feb 3;15(1):6. doi: 10.1186/s11689-022-09471-9.
5
Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report.常染色体显性遗传免疫缺陷合并神经发育迟缓 1 例报告：染色体 4 上 13Mb 缺失导致，包含 NFKB1 基因
Front Immunol. 2022 Jun 17;13:897975. doi: 10.3389/fimmu.2022.897975. eCollection 2022.
6
Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay.四代家系中智力残疾/发育迟缓患者的遗传性不平衡易位（4p16.3p15.32重复/8p23.3p23.2缺失）
Mol Cytogenet. 2021 Jul 8;14(1):35. doi: 10.1186/s13039-021-00552-3.
7
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.MN1 C 端截短综合征是一种具有部分脑-面联合异常的新型神经发育和颅面疾病。
Brain. 2020 Jan 1;143(1):55-68. doi: 10.1093/brain/awz379.
8
Ketamine Restores Thalamic-Prefrontal Cortex Functional Connectivity in a Mouse Model of Neurodevelopmental Disorder-Associated 2p16.3 Deletion.氯胺酮恢复神经发育障碍相关 2p16.3 缺失小鼠模型的丘脑-前额叶皮层功能连接。
Cereb Cortex. 2020 Apr 14;30(4):2358-2371. doi: 10.1093/cercor/bhz244.
9
Selecting variants of unknown significance through network-based gene-association significantly improves risk prediction for disease-control cohorts.通过基于网络的基因关联选择意义不明的变异体，可显著提高疾病对照队列的风险预测能力。
Sci Rep. 2019 Mar 1;9(1):3266. doi: 10.1038/s41598-019-39796-w.
10
Application of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay.阵列比较基因组杂交技术在韩国6岁以下全球发育迟缓儿童中的应用。
Korean J Pediatr. 2017 Sep;60(9):282-289. doi: 10.3345/kjp.2017.60.9.282. Epub 2017 Sep 21.

本文引用的文献

1
Coverage and characteristics of the Affymetrix GeneChip Human Mapping 100K SNP set.Affymetrix基因芯片人类定位100K单核苷酸多态性（SNP）集的覆盖范围和特征。
PLoS Genet. 2006 May;2(5):e67. doi: 10.1371/journal.pgen.0020067. Epub 2006 May 5.
2
Structural variants: changing the landscape of chromosomes and design of disease studies.结构变异：改变染色体格局与疾病研究设计
Hum Mol Genet. 2006 Apr 15;15 Spec No 1:R57-66. doi: 10.1093/hmg/ddl057.
3
Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays.使用高密度寡核苷酸阵列快速检测患有多种先天性异常儿童的亚微观染色体重排。
Hum Mutat. 2006 May;27(5):467-73. doi: 10.1002/humu.20322.
4
Identification of frequent chromosome copy-number polymorphisms by use of high-resolution single-nucleotide-polymorphism arrays.利用高分辨率单核苷酸多态性阵列鉴定常见染色体拷贝数多态性
Am J Hum Genet. 2006 Mar;78(3):520-2. doi: 10.1086/500793.
5
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports.特发性智力障碍和多发先天性畸形患者中隐匿性染色体失衡的新趋势：140例新病例系列及已发表报告综述
J Med Genet. 2006 Aug;43(8):625-33. doi: 10.1136/jmg.2005.039453. Epub 2006 Feb 20.
6
Common deletion polymorphisms in the human genome.人类基因组中的常见缺失多态性。
Nat Genet. 2006 Jan;38(1):86-92. doi: 10.1038/ng1696.
7
BAC array CGH reveals genomic aberrations in idiopathic mental retardation.BAC阵列比较基因组杂交技术揭示了特发性智力障碍中的基因组畸变。
Am J Med Genet A. 2006 Feb 1;140(3):205-11. doi: 10.1002/ajmg.a.31098.
8
Structural variation in the human genome.人类基因组中的结构变异。
Nat Rev Genet. 2006 Feb;7(2):85-97. doi: 10.1038/nrg1767.
9
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.110例CHARGE综合征患者的CHD7突变谱及基因型-表型相关性
Am J Hum Genet. 2006 Feb;78(2):303-14. doi: 10.1086/500273. Epub 2005 Dec 29.
10
Widening the spectrum of human genetic variation.拓宽人类基因变异的范围。
Nat Genet. 2006 Jan;38(1):9-11. doi: 10.1038/ng0106-9.

智力发育迟缓儿童基因组失衡的寡核苷酸微阵列分析

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.

作者信息

Friedman J M, Baross Agnes, Delaney Allen D, Ally Adrian, Arbour Laura, Armstrong Linlea, Asano Jennifer, Bailey Dione K, Barber Sarah, Birch Patricia, Brown-John Mabel, Cao Manqiu, Chan Susanna, Charest David L, Farnoud Noushin, Fernandes Nicole, Flibotte Stephane, Go Anne, Gibson William T, Holt Robert A, Jones Steven J M, Kennedy Giulia C, Krzywinski Martin, Langlois Sylvie, Li Haiyan I, McGillivray Barbara C, Nayar Tarun, Pugh Trevor J, Rajcan-Separovic Evica, Schein Jacqueline E, Schnerch Angelique, Siddiqui Asim, Van Allen Margot I, Wilson Gary, Yong Siu-Li, Zahir Farah, Eydoux Patrice, Marra Marco A

机构信息

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

出版信息

Am J Hum Genet. 2006 Sep;79(3):500-13. doi: 10.1086/507471. Epub 2006 Jul 25.

DOI:10.1086/507471
PMID:16909388
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1559542/
Abstract

The cause of mental retardation in one-third to one-half of all affected individuals is unknown. Microscopically detectable chromosomal abnormalities are the most frequently recognized cause, but gain or loss of chromosomal segments that are too small to be seen by conventional cytogenetic analysis has been found to be another important cause. Array-based methods offer a practical means of performing a high-resolution survey of the entire genome for submicroscopic copy-number variants. We studied 100 children with idiopathic mental retardation and normal results of standard chromosomal analysis, by use of whole-genome sampling analysis with Affymetrix GeneChip Human Mapping 100K arrays. We found de novo deletions as small as 178 kb in eight cases, de novo duplications as small as 1.1 Mb in two cases, and unsuspected mosaic trisomy 9 in another case. This technology can detect at least twice as many potentially pathogenic de novo copy-number variants as conventional cytogenetic analysis can in people with mental retardation.

摘要

在所有受影响个体中，三分之一至二分之一的智力迟钝病因不明。显微镜下可检测到的染色体异常是最常见的已知病因，但已发现常规细胞遗传学分析无法检测到的过小染色体片段的增减是另一个重要病因。基于芯片的方法为对整个基因组进行亚显微拷贝数变异的高分辨率检测提供了一种实用手段。我们使用Affymetrix GeneChip Human Mapping 100K芯片通过全基因组抽样分析研究了100名患有特发性智力迟钝且标准染色体分析结果正常的儿童。我们在8例中发现了小至178 kb的新生缺失，在2例中发现了小至1.1 Mb的新生重复，在另一例中发现了意外的9号染色体嵌合三体。这项技术在智力迟钝患者中检测到的潜在致病性新生拷贝数变异至少是传统细胞遗传学分析的两倍。