• 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

The Immune Status of Patients with 16p11.2 Deletion Syndrome.

作者信息

Wang Laura A, Larson Austin, Abbott Jordan K

机构信息

Children's Hospital of Colorado and University of Colorado, 13123 E 16th Ave, Aurora, CO, USA.

出版信息

J Clin Immunol. 2023 Nov;43(8):1792-1795. doi: 10.1007/s10875-023-01597-2. Epub 2023 Oct 9.

DOI:10.1007/s10875-023-01597-2
PMID:37814083
Abstract
摘要

相似文献

1
The Immune Status of Patients with 16p11.2 Deletion Syndrome.16p11.2缺失综合征患者的免疫状态
J Clin Immunol. 2023 Nov;43(8):1792-1795. doi: 10.1007/s10875-023-01597-2. Epub 2023 Oct 9.
2
Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome.高胰岛素血症性低血糖症:16p11.2缺失综合征的一种新表现形式。
Clin Endocrinol (Oxf). 2019 May;90(5):766-769. doi: 10.1111/cen.13951. Epub 2019 Mar 7.
3
Benign infantile seizures followed by autistic regression in a boy with 16p11.2 deletion.一名患有16p11.2缺失的男孩出现良性婴儿惊厥,随后出现自闭症退行。
Epileptic Disord. 2017 Jun 1;19(2):222-225. doi: 10.1684/epd.2017.0909.
4
[Phenotype variability in thirteen 16p11.2 deletion patients].[13例16p11.2缺失患者的表型变异性]
An Pediatr (Engl Ed). 2018 Jul;89(1):62-63. doi: 10.1016/j.anpedi.2017.08.003. Epub 2017 Oct 14.
5
Chemogenetic Activation of Prefrontal Cortex Rescues Synaptic and Behavioral Deficits in a Mouse Model of 16p11.2 Deletion Syndrome.化学遗传学激活前额叶皮层可挽救 16p11.2 缺失综合征小鼠模型中的突触和行为缺陷。
J Neurosci. 2018 Jun 27;38(26):5939-5948. doi: 10.1523/JNEUROSCI.0149-18.2018. Epub 2018 May 31.
6
A case of Friedreich ataxia in an adolescent with 16p11.2 microdeletion syndrome.一名患有16p11.2微缺失综合征的青少年患弗里德赖希共济失调的病例。
Neurol Sci. 2020 Mar;41(3):721-722. doi: 10.1007/s10072-019-04075-z. Epub 2019 Oct 2.
7
[A girl with 16p11.2 deletion syndrome].[一名患有16p11.2缺失综合征的女孩]
Ned Tijdschr Geneeskd. 2019 Mar 21;163:D3441.
8
Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models.靶向 RHOA 通路可改善 Kctd13 和 16p11.2 缺失小鼠模型成年期的学习和记忆能力。
Mol Autism. 2021 Jan 13;12(1):1. doi: 10.1186/s13229-020-00405-7.
9
Mayer-Rokitansky-Küster-Hauser Syndrome and 16p11.2 Recurrent Microdeletion: A Case Report and Review of the Literature.梅耶-罗基坦斯基-库斯特-豪泽综合征与16p11.2反复微缺失:一例报告及文献复习
J Pediatr Adolesc Gynecol. 2018 Oct;31(5):533-535. doi: 10.1016/j.jpag.2018.04.003. Epub 2018 May 3.
10
Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome.一名患有16p11.2微缺失综合征的患者出现良性婴儿惊厥(IC)及随后的发作性运动诱发性运动障碍(PKD)。
Neurogenetics. 2013 Nov;14(3-4):251-3. doi: 10.1007/s10048-013-0376-7. Epub 2013 Oct 8.

引用本文的文献

1
The pleiotropic spectrum of proximal 16p11.2 CNVs.近端 16p11.2 CNVs 的多效性谱。
Am J Hum Genet. 2024 Nov 7;111(11):2309-2346. doi: 10.1016/j.ajhg.2024.08.015. Epub 2024 Sep 26.

本文引用的文献

1
16p11.2 deletion syndrome.16p11.2 缺失综合征。
Curr Opin Genet Dev. 2021 Jun;68:49-56. doi: 10.1016/j.gde.2021.01.011. Epub 2021 Mar 2.
2
Rare variants at 16p11.2 are associated with common variable immunodeficiency.16号染色体短臂11.2区的罕见变异与常见变异型免疫缺陷相关。
J Allergy Clin Immunol. 2015 Jun;135(6):1569-77. doi: 10.1016/j.jaci.2014.12.1939. Epub 2015 Feb 10.
3
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.常染色体 16p11.2 区 200kb 片段缺失,可导致 SH2B1 基因缺失,与发育迟缓及肥胖相关。
Genet Med. 2010 Oct;12(10):641-7. doi: 10.1097/GIM.0b013e3181ef4286.
4
Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.16p11.2 区新发和遗传缺失/重复相关表型谱在孤独症谱系障碍患者中的研究。
J Med Genet. 2010 Mar;47(3):195-203. doi: 10.1136/jmg.2009.069369. Epub 2009 Sep 15.
5
Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.与冠蛋白-1A突变及16号染色体p11.2缺失相关的重症联合免疫缺陷(SCID)和注意力缺陷多动障碍(ADHD)
Clin Immunol. 2009 Apr;131(1):24-30. doi: 10.1016/j.clim.2008.11.002. Epub 2008 Dec 20.
6
Association between microdeletion and microduplication at 16p11.2 and autism.16号染色体短臂11.2区域的微小缺失和微小重复与自闭症之间的关联。
N Engl J Med. 2008 Feb 14;358(7):667-75. doi: 10.1056/NEJMoa075974. Epub 2008 Jan 9.