• 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
Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.通过产前诊断血小板减少-桡骨缺失（TAR）综合征相关的1q21.1微缺失所证明的阵列比较基因组杂交衍生信息对遗传咨询的影响。
Am J Hum Genet. 2007 Oct;81(4):866-8. doi: 10.1086/521338.
2
Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling.血小板减少伴桡骨缺失（TAR）综合征：14例更多病例的临床遗传学系列研究。相关1q21.1缺失对遗传咨询的影响。
Eur J Med Genet. 2011 Sep-Oct;54(5):e471-7. doi: 10.1016/j.ejmg.2011.05.001. Epub 2011 May 13.
3
Thrombocytopenia-absent radius syndrome.血小板减少性桡骨缺失综合征。
Semin Thromb Hemost. 2011 Sep;37(6):707-12. doi: 10.1055/s-0031-1291381. Epub 2011 Nov 18.
4
Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.1q21.1微缺失和RBM8A低表达等位基因复合杂合导致的血小板减少-桡骨缺失（TAR）综合征胎儿的产前诊断和尸检：病例报告
BMC Res Notes. 2013 Sep 22;6:376. doi: 10.1186/1756-0500-6-376.
5
Thrombocytopenia-absent-radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes.一名患有血小板减少-桡骨缺失综合征的儿童，其1q21.1缺失区域大于健康母亲，且常见缺失基因显著下调。
Eur J Med Genet. 2012 Feb;55(2):120-3. doi: 10.1016/j.ejmg.2011.11.007. Epub 2011 Dec 8.
6
1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes.1q21.1缺失及血小板减少-桡骨缺失样表型同胞中的一种罕见功能性多态性
Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6). doi: 10.1101/mcs.a004564. Print 2019 Dec.
7
First-trimester diagnosis of thrombocytopenia-absent radius syndrome using virtual reality.利用虚拟现实技术在孕早期诊断血小板减少-桡骨缺失综合征
Clin Dysmorphol. 2014 Apr;23(2):71-73. doi: 10.1097/MCD.0000000000000029.
8
Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects.上肢海豹肢畸形：一例产前伴桡骨缺如/血小板减少症（TAR）综合征的病例，阐明了染色体微阵列在肢体减少缺陷中的重要性。
Taiwan J Obstet Gynecol. 2020 Mar;59(2):318-322. doi: 10.1016/j.tjog.2020.01.024.
9
[Genetic Study and Prenatal Diagnosis of a Family with Thrombocytopenia-Absent Radius (TAR) Syndrome].[血小板减少伴桡骨缺失（TAR）综合征一家系的遗传学研究及产前诊断]
Sichuan Da Xue Xue Bao Yi Xue Ban. 2021 Jul;52(4):711-715. doi: 10.12182/20210760508.
10
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.类似于常染色体隐性遗传的复杂遗传模式，涉及血小板减少伴桡骨缺失综合征中的微缺失。
Am J Hum Genet. 2007 Feb;80(2):232-40. doi: 10.1086/510919. Epub 2006 Dec 21.

引用本文的文献

1
Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 1q21.1 microdeletions and microduplications.1q21.1微缺失和微重复胎儿的产前表型及妊娠结局
Front Med (Lausanne). 2023 Aug 24;10:1207891. doi: 10.3389/fmed.2023.1207891. eCollection 2023.
2
Analysis of 17 Prenatal Cases with the Chromosomal 1q21.1 Copy Number Variation.分析 17 例染色体 1q21.1 拷贝数变异的产前病例。
Dis Markers. 2022 Apr 27;2022:5487452. doi: 10.1155/2022/5487452. eCollection 2022.
3
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.1q21.1 近端的微缺失和微重复导致可变的异常表型。
Eur J Hum Genet. 2012 Jul;20(7):754-61. doi: 10.1038/ejhg.2012.6. Epub 2012 Feb 8.
4
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.一种新的微缺失综合征涉及 5q14.3-q15：三例患者的临床和分子细胞遗传学特征。
Eur J Hum Genet. 2009 Dec;17(12):1592-9. doi: 10.1038/ejhg.2009.90. Epub 2009 May 27.
5
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.15q13微缺失和微重复综合征的进一步界定：从无致病性到严重后果的临床谱。
J Med Genet. 2009 Aug;46(8):511-23. doi: 10.1136/jmg.2008.063412. Epub 2009 Apr 15.
6
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.300例病例中应用阵列比较基因组杂交技术（aCGH）进行产前诊断的临床应用
Prenat Diagn. 2009 Jan;29(1):29-39. doi: 10.1002/pd.2127.

本文引用的文献

1
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.伴有呼吸异常的重度智力发育迟缓（皮特-霍普金斯综合征）由神经元bHLH转录因子TCF4单倍剂量不足引起。
Hum Mol Genet. 2007 Jun 15;16(12):1488-94. doi: 10.1093/hmg/ddm099. Epub 2007 May 3.
2
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).TCF4单倍剂量不足会导致伴有间歇性换气过度的综合征性智力迟钝（皮特-霍普金斯综合征）。
Am J Hum Genet. 2007 May;80(5):994-1001. doi: 10.1086/515583. Epub 2007 Mar 23.
3
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.编码I类碱性螺旋-环-螺旋转录因子的TCF4发生突变，是导致皮特-霍普金斯综合征的原因，这是一种与自主神经功能障碍相关的严重癫痫性脑病。
Am J Hum Genet. 2007 May;80(5):988-93. doi: 10.1086/515582. Epub 2007 Mar 23.
4
Strong association of de novo copy number mutations with autism.新发拷贝数突变与自闭症的强关联。
Science. 2007 Apr 20;316(5823):445-9. doi: 10.1126/science.1138659. Epub 2007 Mar 15.
5
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.利用遗传连锁和染色体重排绘制自闭症风险基因座图谱。
Nat Genet. 2007 Mar;39(3):319-28. doi: 10.1038/ng1985. Epub 2007 Feb 18.
6
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.类似于常染色体隐性遗传的复杂遗传模式，涉及血小板减少伴桡骨缺失综合征中的微缺失。
Am J Hum Genet. 2007 Feb;80(2):232-40. doi: 10.1086/510919. Epub 2006 Dec 21.
7
Global variation in copy number in the human genome.人类基因组中拷贝数的全球变异。
Nature. 2006 Nov 23;444(7118):444-54. doi: 10.1038/nature05329.
8
A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon.一种具有低人β-防御素2基因拷贝数的8号染色体基因簇多态性易导致结肠克罗恩病。
Am J Hum Genet. 2006 Sep;79(3):439-48. doi: 10.1086/505915. Epub 2006 Jul 12.
9
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.一种与常见倒位多态性相关的新型17号染色体q21.31微缺失综合征。
Nat Genet. 2006 Sep;38(9):999-1001. doi: 10.1038/ng1853. Epub 2006 Aug 13.
10
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.17号染色体长臂21.3区包含微管相关蛋白tau（MAPT）基因的微缺失与发育迟缓及学习障碍相关。
Nat Genet. 2006 Sep;38(9):1032-7. doi: 10.1038/ng1858. Epub 2006 Aug 13.

Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.

作者信息

Uhrig Sabine, Schlembach Dietmar, Waldispuehl-Geigl Julie, Schaffer Werner, Geigl Jochen, Klopocki Eva, Mundlos Stefan, Speicher Michael R

出版信息

Am J Hum Genet. 2007 Oct;81(4):866-8. doi: 10.1086/521338.

DOI:10.1086/521338
PMID:17847015
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2227939/
Abstract
摘要