Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23].
作者信息
Koehler Udo, Pabst Brigitte, Pober Barbara, Kozel Beth
机构信息
MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.
Institute for Human Genetics, Hannover Medical School, Hannover, Germany.
出版信息
Eur J Hum Genet. 2014 Sep;22(9). doi: 10.1038/ejhg.2014.28. Epub 2014 Feb 26.
Abstract
摘要
相似文献
1
Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23].威廉姆斯-贝伦综合征[7q11.23]临床应用基因卡片
Eur J Hum Genet. 2014 Sep;22(9). doi: 10.1038/ejhg.2014.28. Epub 2014 Feb 26.
2
Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.对85例威廉斯综合征患者进行外显子组测序，排除了编码变异是导致社交行为剩余变异的主要因素。
Mol Genet Genomic Med. 2018 Sep;6(5):749-765. doi: 10.1002/mgg3.429. Epub 2018 Jul 15.
3
GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats.GTF2IRD2位于威廉姆斯-博伦综合征关键区域7q11.23，编码一种含有两个TFII-I样螺旋-环-螺旋重复序列的蛋白质。
Proc Natl Acad Sci U S A. 2004 Jul 27;101(30):11052-7. doi: 10.1073/pnas.0404150101. Epub 2004 Jul 8.
4
Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.部分 7q11.23 缺失进一步提示 GTF2I 和 GTF2IRD1 是导致威廉姆斯-贝伦综合征神经认知特征的主要基因。
J Med Genet. 2010 May;47(5):312-20. doi: 10.1136/jmg.2009.071712. Epub 2009 Nov 5.
5
A transcriptomic study of Williams-Beuren syndrome associated genes in mouse embryonic stem cells.一项关于威廉姆斯-比伦综合征相关基因在小鼠胚胎干细胞中转录组学的研究。
Sci Data. 2019 Nov 6;6(1):262. doi: 10.1038/s41597-019-0281-5.
6
Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome.GTF2IRD2的分离与鉴定，一种在威廉姆斯-博伦综合征中缺失的新型融合基因及转录因子TFII-I家族成员。
Eur J Hum Genet. 2004 Jul;12(7):551-60. doi: 10.1038/sj.ejhg.5201174.
7
A new case of keratoconus associated with Williams-Beuren syndrome.一例与威廉姆斯-贝伦综合征相关的圆锥角膜新病例。
Ophthalmic Genet. 2013 Sep;34(3):174-7. doi: 10.3109/13816810.2012.739257. Epub 2012 Nov 20.
8
Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome.威廉斯-贝伦综合征中缺失的TFII-I基因家族成员的比较。
Protein Sci. 2004 Oct;13(10):2588-99. doi: 10.1110/ps.04747604.
9
[Atypical deletions in Williams-Beuren syndrome].[威廉姆斯-贝伦综合征中的非典型缺失]
Rev Med Inst Mex Seguro Soc. 2017 Sep-Oct;55(5):615-620.
10
Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23.威廉姆斯综合征在视觉空间处理方面的缺陷与7号染色体q11.23上的GTF2IRD1和GTF2I相关。
Genet Med. 2003 Jul-Aug;5(4):311-21. doi: 10.1097/01.GIM.0000076975.10224.67.
引用本文的文献
1
Comparative genomics reveals molecular mechanisms underlying health and reproduction in cryptorchid mammals.比较基因组学揭示了隐睾哺乳动物健康和繁殖的分子机制。
BMC Genomics. 2021 Oct 26;22(1):763. doi: 10.1186/s12864-021-08084-1.
2
Peripersonal Visuospatial Abilities in Williams Syndrome Analyzed by a Table Radial Arm Maze Task.通过桌面放射状臂迷宫任务分析威廉姆斯综合征患者的个人周边视觉空间能力
Front Hum Neurosci. 2020 Jul 20;14:254. doi: 10.3389/fnhum.2020.00254. eCollection 2020.
3
Addressing the Educational Needs of Children with Williams Syndrome: A Rather Neglected Area of Research?解决威廉姆斯综合征儿童的教育需求：一个被忽视的研究领域？
J Autism Dev Disord. 2018 Sep;48(9):3256-3259. doi: 10.1007/s10803-018-3578-x.
4
Diagnostic Path of a Genetic Disease: A Case of Williams-Beuren Syndrome in Burkina Faso.一种遗传病的诊断路径：布基纳法索的一例威廉姆斯综合征病例
Pediatr Rep. 2015 Dec 17;7(4):5817. doi: 10.4081/pr.2015.5817. eCollection 2015 Dec 9.
5
Sequential egocentric navigation and reliance on landmarks in Williams syndrome and typical development.威廉斯综合征与典型发展个体的序列自我中心导航和地标依赖。
Front Psychol. 2015 Feb 25;6:216. doi: 10.3389/fpsyg.2015.00216. eCollection 2015.
6
Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients.基因对威廉姆斯综合征视空间认知的影响：来自两位截然不同的部分缺失患者的启示。
J Neurodev Disord. 2014;6(1):18. doi: 10.1186/1866-1955-6-18. Epub 2014 Jul 15.
本文引用的文献
1
Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and Europe.威廉姆斯综合征患儿的传递型父母中7q11.23倒位多态性的频率，与北美和欧洲普通人群中的频率并无差异。
Mol Cytogenet. 2011 Feb 28;4:7. doi: 10.1186/1755-8166-4-7.
2
Williams-Beuren syndrome.威廉姆斯-贝伦综合征
N Engl J Med. 2010 Jan 21;362(3):239-52. doi: 10.1056/NEJMra0903074.
3
The genomic basis of the Williams-Beuren syndrome.威廉姆斯综合征的基因组基础。
Cell Mol Life Sci. 2009 Apr;66(7):1178-97. doi: 10.1007/s00018-008-8401-y.
4
Multisystem study of 20 older adults with Williams syndrome.对20名患有威廉姆斯综合征的老年人进行的多系统研究。
Am J Med Genet A. 2004 Dec 15;131(3):255-64. doi: 10.1002/ajmg.a.30400.
5
Mutational mechanisms of Williams-Beuren syndrome deletions.威廉姆斯-贝伦综合征缺失的突变机制。
Am J Hum Genet. 2003 Jul;73(1):131-51. doi: 10.1086/376565. Epub 2003 Jun 9.
6
Prevalence estimation of Williams syndrome.威廉姆斯综合征的患病率估计
J Child Neurol. 2002 Apr;17(4):269-71. doi: 10.1177/088307380201700406.
7
American Academy of Pediatrics: Health care supervision for children with Williams syndrome.美国儿科学会：威廉姆斯综合征患儿的医疗保健监督
Pediatrics. 2001 May;107(5):1192-204.
8
Elastin: mutational spectrum in supravalvular aortic stenosis.弹性蛋白：主动脉瓣上狭窄的突变谱
Eur J Hum Genet. 2000 Dec;8(12):955-63. doi: 10.1038/sj.ejhg.5200564.
9
Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.威廉姆斯综合征常见关键区域的划定以及生长、心脏缺陷、种族和父母起源的临床相关性
Am J Med Genet. 1998 Jun 16;78(1):82-9. doi: 10.1002/(sici)1096-8628(19980616)78:1<82::aid-ajmg17>3.0.co;2-k.
10
Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome.7q11.23处弹性蛋白基因的缺失发生在约90%的威廉姆斯综合征患者中。
Am J Hum Genet. 1995 May;56(5):1156-61.
Zotero 插件