• 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

DiGeorge anomaly associated with 10p deletion.

作者信息

Monaco G, Pignata C, Rossi E, Mascellaro O, Cocozza S, Ciccimarra F

机构信息

Department of Pediatrics, University of Naples, Italy.

出版信息

Am J Med Genet. 1991 May 1;39(2):215-6. doi: 10.1002/ajmg.1320390220.

DOI:10.1002/ajmg.1320390220
PMID:2063928
Abstract

DiGeorge anomaly (DGA) represents a heterogeneous entity, which is often sporadic, although familial cases and the association with monosomy 22q11 have been reported. Recently, a few patients with 10p deletion syndrome and immunological and other laboratory findings similar to DGA have been described. We report on an additional case of partial DGA associated with 10p deletion.

摘要

相似文献

1
DiGeorge anomaly associated with 10p deletion.
Am J Med Genet. 1991 May 1;39(2):215-6. doi: 10.1002/ajmg.1320390220.
2
DiGeorge anomaly and chromosome 10p deletions: one or two loci?迪乔治综合征与10号染色体短臂缺失：一个还是两个基因座？
Am J Med Genet. 1997 Nov 28;73(1):72-5.
3
The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome.10p缺失综合征与经典迪乔治综合征的表型谱。
Genet Couns. 1999;10(1):59-65.
4
Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.圆锥动脉干异常面容综合征与22q11.2区域内的缺失相关的确认。
Am J Med Genet. 1994 Nov 15;53(3):285-9. doi: 10.1002/ajmg.1320530314.
5
DiGeorge syndrome and partial monosomy 10p: case report and review.迪乔治综合征与10p部分单体性：病例报告及文献复习
Ann Genet. 1995;38(3):162-7.
6
Deletion of the short arm of chromosome 10 (10p13): report of a patient and review.10号染色体短臂缺失（10p13）：1例患者报告及文献复习
Am J Med Genet. 1994 Aug 1;52(1):34-8. doi: 10.1002/ajmg.1320520107.
7
Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.用于检测与VCFS/迪格奥尔格综合征I和迪格奥尔格综合征II基因座相关缺失的双探针荧光原位杂交检测法。
Am J Med Genet. 2000 Apr 10;91(4):313-7.
8
DiGeorge anomaly in the absence of chromosome 22q11.2 deletion.无22号染色体q11.2缺失的迪格奥尔格综合征
J Pediatr. 2009 Oct;155(4):560-5. doi: 10.1016/j.jpeds.2009.04.010.
9
The DiGeorge anomaly (CATCH 22, DiGeorge/velocardiofacial syndrome).迪乔治异常（22号染色体微缺失综合征、迪乔治/心面综合征）
Semin Hematol. 1998 Oct;35(4):282-90.
10
Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome.DiGeorge 2综合征中10p的间质性缺失与房间隔缺损
Clin Genet. 2004 Aug;66(2):128-36. doi: 10.1111/j.1399-0004.2004.00290.x.

引用本文的文献

1
Genetic Disorders of Parathyroid Development and Function.甲状旁腺发育和功能的遗传疾病。
Endocrinol Metab Clin North Am. 2018 Dec;47(4):809-823. doi: 10.1016/j.ecl.2018.07.007. Epub 2018 Oct 12.
2
The Role of PKC-θ in CD4+ T Cells and HIV Infection: To the Nucleus and Back Again.蛋白激酶C-θ在CD4+ T细胞和HIV感染中的作用：往返于细胞核
Front Immunol. 2015 Jul 30;6:391. doi: 10.3389/fimmu.2015.00391. eCollection 2015.
3
Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14.
一名患有涉及10p15.3p14区域5.6兆碱基间质性缺失的男孩出现唇腭裂、身材矮小及发育迟缓。
Mol Syndromol. 2015 Feb;6(1):39-43. doi: 10.1159/000371404. Epub 2015 Jan 22.
4
The yin and yang of protein kinase C-theta (PKCθ): a novel drug target for selective immunosuppression.蛋白激酶C-θ（PKCθ）的阴阳学说：一种选择性免疫抑制的新型药物靶点。
Adv Pharmacol. 2013;66:267-312. doi: 10.1016/B978-0-12-404717-4.00006-8.
5
Immunological aspects of 22q11.2 deletion syndrome.22q11.2 缺失综合征的免疫学方面。
Cell Mol Life Sci. 2012 Jan;69(1):17-27. doi: 10.1007/s00018-011-0842-z. Epub 2011 Oct 9.
6
Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci.子宫阴道发育不全（Mayer-Rokitansky-Küster-Hauser 综合征）与已知 DiGeorge 或 DiGeorge 样基因座缺失相关。
Orphanet J Rare Dis. 2011 Mar 15;6:9. doi: 10.1186/1750-1172-6-9.
7
Genetics of endocrine and metabolic disorders: parathyroid.内分泌与代谢疾病的遗传学：甲状旁腺
Rev Endocr Metab Disord. 2004 Mar;5(1):37-51. doi: 10.1023/B:REMD.0000016123.21743.fe.
8
Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice.胚胎视黄酸合成减少导致新生小鼠出现迪格奥尔格综合征表型。
Proc Natl Acad Sci U S A. 2003 Feb 18;100(4):1763-8. doi: 10.1073/pnas.0437920100. Epub 2003 Jan 31.
9
Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.由转录因子GCMB基因中的突变引起的家族性孤立性甲状旁腺功能减退症。
J Clin Invest. 2001 Oct;108(8):1215-20. doi: 10.1172/JCI13180.
10
Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).22q11.2染色体缺失综合征（迪格奥尔格综合征/腭心面综合征）患儿出生后第一年淋巴细胞功能和数量的纵向分析
Clin Diagn Lab Immunol. 1999 Nov;6(6):906-11. doi: 10.1128/CDLI.6.6.906-911.1999.