• 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 Rubinstein-Taybi syndrome.

作者信息

Padfield C J, Partington M W, Simpson N E

出版信息

Arch Dis Child. 1968 Feb;43(227):94-101. doi: 10.1136/adc.43.227.94.

DOI:10.1136/adc.43.227.94
PMID:5642988
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2019897/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef68/2019897/5353080235a0/archdisch01556-0106-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef68/2019897/dafa44c455ee/archdisch01556-0105-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef68/2019897/f827e10c5798/archdisch01556-0105-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef68/2019897/b82d4de87d55/archdisch01556-0106-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef68/2019897/5353080235a0/archdisch01556-0106-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef68/2019897/dafa44c455ee/archdisch01556-0105-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef68/2019897/f827e10c5798/archdisch01556-0105-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef68/2019897/b82d4de87d55/archdisch01556-0106-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef68/2019897/5353080235a0/archdisch01556-0106-b.jpg

相似文献

1
The Rubinstein-Taybi syndrome.鲁宾斯坦-泰比综合征
Arch Dis Child. 1968 Feb;43(227):94-101. doi: 10.1136/adc.43.227.94.
2
The Rubinstein-Taybi syndrome: a report of two cases.鲁宾斯坦-泰比综合征：两例报告。
Arch Dis Child. 1968 Feb;43(227):102-6. doi: 10.1136/adc.43.227.102.
3
[Rubinstein-Taybi syndrome of broad thumbs and broad big toes with cranio-mandibulo-facial malformations and mental retardation].
Arch Kinderheilkd. 1969 May;179(1):78-90.
4
Brachydactyly, facial abnormalities, and mental retardation. Rubinstein-Taybi syndrome.
Am J Dis Child. 1966 Jan;111(1):96-8. doi: 10.1001/archpedi.1966.02090040132019.
5
Mental retardation with facial abnormalities, broad thumbs and toes and unusual dermatoglyphics.智力发育迟缓伴面部异常、拇指和脚趾宽大及特殊皮纹。
Dev Med Child Neurol. 1967 Oct;9(5):588-93. doi: 10.1111/j.1469-8749.1967.tb02329.x.
6
A case of the Rubinstein-Taybi syndrome.一例鲁宾斯坦-泰比综合征病例。
Acta Ophthalmol (Copenh). 1969;47(1):33-8. doi: 10.1111/j.1755-3768.1969.tb05608.x.
7
Rubinstein-Taybi syndrome with complex motor deficits.伴有复杂运动功能障碍的鲁宾斯坦-泰比综合征
Rev Roum Neurol Psychiatr. 1974;11(1):77-80.
8
[Rubinstein-Taybi's syndrome].[鲁宾斯坦-泰比综合征]
Ugeskr Laeger. 1968 Nov 14;130(46):1974-7.
9
The Rubinstein-Taybi syndrome. Report of 7 cases.鲁宾斯坦-泰比综合征。7例报告。
Clin Genet. 1972;3(5):303-18. doi: 10.1111/j.1399-0004.1972.tb01462.x.
10
A case of Rubinstein--Taybi syndrome. Notes on some unusual manifestations, and an evaluation by Rubinstein.
Clin Pediatr (Phila). 1976 Sep;15(9):779-83. doi: 10.1177/000992287601500903.

引用本文的文献

1
Rubinstein-Taybi Syndrome Clinical Characteristics from the Perspective of Quality of Life and the Impact of the Disease on Family Functioning.从生活质量角度看鲁宾斯坦-泰比综合征的临床特征及该疾病对家庭功能的影响
J Clin Med. 2024 Sep 2;13(17):5210. doi: 10.3390/jcm13175210.
2
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome.极罕见综合征：以鲁宾斯坦-泰比综合征为例。
J Pediatr Genet. 2015 Sep;4(3):177-86. doi: 10.1055/s-0035-1564571. Epub 2015 Sep 28.
3
Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders.

本文引用的文献

1
BROAD THUMBS AND TOES, AND UNUSUAL FACIAL FEATURES; A PROBABLE MENTAL RETARDATION SYNDROME.
Am J Roentgenol Radium Ther Nucl Med. 1965 Feb;93:362-6.
2
[A STUDY OF CONSTITUTIONAL NANISM. II. RUBINSTEIN AND TAYBI SYNDROME].
Ann Pediatr (Paris). 1964 Dec 2;11:646-50.
3
BRACHYDACTYLY, PECULIAR FACIES AND MENTAL RETARDATION.短指畸形、特殊面容与智力发育迟缓。
Am J Dis Child. 1964 Oct;108:351-9. doi: 10.1001/archpedi.1964.02090010353004.
4
核小体重塑在神经发育和智力障碍疾病中的作用。
Front Behav Neurosci. 2015 Apr 23;9:100. doi: 10.3389/fnbeh.2015.00100. eCollection 2015.
4
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.鲁宾斯坦-泰比综合征：临床特征、遗传基础、诊断及治疗
Ital J Pediatr. 2015 Jan 20;41:4. doi: 10.1186/s13052-015-0110-1.
5
Beyond transcription factors: the role of chromatin modifying enzymes in regulating transcription required for memory.超越转录因子：染色质修饰酶在调节记忆所需转录过程中的作用。
Learn Mem. 2008 Jun 26;15(7):460-7. doi: 10.1101/lm.917508. Print 2008 Jul.
6
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature.鲁宾斯坦-泰比综合征的眼部特征：24例患者的调查及文献综述
Br J Ophthalmol. 2000 Oct;84(10):1177-84. doi: 10.1136/bjo.84.10.1177.
7
Monozygotic twins discordant for rubinstein-taybi syndrome.患鲁宾斯坦-泰比综合征不一致的同卵双胞胎。
J Med Genet. 1981 Aug;18(4):312-4. doi: 10.1136/jmg.18.4.312.
8
Multiple anomalies associated with a small extra metacentric autosome.与一条小的额外亚中着丝粒常染色体相关的多种异常。
J Med Genet. 1968 Dec;5(4):329-34. doi: 10.1136/jmg.5.4.329.
9
The Rubinstein-Taybi Syndrome: chromosomal studies.
Am J Hum Genet. 1973 May;25(3):230-6.
10
The Bubinstein-Taybi syndrome: familial and dermatoglyphic data.布宾斯坦-泰比综合征：家族及皮纹学数据
Am J Hum Genet. 1973 May;25(3):225-9.
Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.
拇指和脚趾宽阔以及面部异常。一种可能的智力发育迟缓综合征。
Am J Dis Child. 1963 Jun;105:588-608. doi: 10.1001/archpedi.1963.02080040590010.
5
Rubinstein-Taybi syndromes: broad thumbs and great toes, facial abnormalities and mental retardation. aA presentation of three cases.鲁宾斯坦-泰比综合征：拇指和大脚趾粗大、面部异常及智力发育迟缓。三例病例报告。
Can Med Assoc J. 1967 Feb 25;96(8):462-6.
6
Dermatoglyphics of the broad thumb and great toe syndrome.宽拇指和大足趾综合征的皮纹学
Am J Dis Child. 1967 Feb;113(2):207-9. doi: 10.1001/archpedi.1967.02090170071004.
7
[On a case of the Rubinstein and Taybi syndrome].[关于一例鲁宾斯坦-泰比综合征病例]
Minerva Pediatr. 1966 Jun 30;18(20):1037-40.
8
Broad thumbs and broad great toes with facial abnormalities and mental retardation.宽阔的拇指和大脚趾，伴有面部异常和智力迟钝。
J Pediatr. 1966 Jun;68(6):942-51. doi: 10.1016/s0022-3476(66)80214-7.
9
Broad thumbs and toes and mental retardation. Unusual dermatoglyphic observations in two individuals.
Am J Dis Child. 1966 Mar;111(3):287-90. doi: 10.1001/archpedi.1966.02090060097011.
10
Brachydactyly, facial abnormalities, and mental retardation. Rubinstein-Taybi syndrome.
Am J Dis Child. 1966 Jan;111(1):96-8. doi: 10.1001/archpedi.1966.02090040132019.