Uniparental Disomy Causing Myoclonus Dystonia Associated with Russell Silver Syndrome.
作者信息
Shpiner Danielle S, Bardos Jonah, Barbouth Deborah S, Moore Henry P
机构信息
Department of Neurology University of Miami Miller School of Medicine Miami FL USA.
Department of Human Genetics University of Miami Miller School of Medicine Miami FL USA.
出版信息
Mov Disord Clin Pract. 2019 May 7;6(5):409-410. doi: 10.1002/mdc3.12768. eCollection 2019 Jun.
Abstract
摘要
相似文献
1
Uniparental Disomy Causing Myoclonus Dystonia Associated with Russell Silver Syndrome.单亲二体导致与罗素-西尔弗综合征相关的肌阵挛性肌张力障碍
Mov Disord Clin Pract. 2019 May 7;6(5):409-410. doi: 10.1002/mdc3.12768. eCollection 2019 Jun.
2
Deep Brain Stimulation for an Unusual Presentation of Myoclonus Dystonia Associated with Russell-Silver Syndrome.深部脑刺激治疗 Russell-Silver 综合征相关肌阵挛-肌张力障碍的不典型表现
Tremor Other Hyperkinet Mov (N Y). 2023 Oct 30;13:40. doi: 10.5334/tohm.782. eCollection 2023.
3
Myoclonus-dystonia due to maternal uniparental disomy.由于母源性单亲二体导致的肌阵挛性肌张力障碍
Arch Neurol. 2008 Oct;65(10):1380-5. doi: 10.1001/archneur.65.10.1380.
4
Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7.母体单亲二体性 7 号染色体导致的非典型性 Silver-Russell 表型。
Am J Med Genet A. 2010 Sep;152A(9):2342-5. doi: 10.1002/ajmg.a.33590.
5
Silver-Russell syndrome and exclusion of uniparental disomy.Silver-Russell综合征与单亲二体的排除
Clin Genet. 1996 Dec;50(6):494-7. doi: 10.1111/j.1399-0004.1996.tb02720.x.
6
Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation.Silver-Russell综合征的广泛临床谱及其对生长迟缓基因检测的影响。
Pediatrics. 2009 May;123(5):e929-31. doi: 10.1542/peds.2008-3228. Epub 2009 Apr 13.
7
Silver-Russell syndrome in Hong Kong.香港的Silver-Russell综合征。
Hong Kong Med J. 2016 Dec;22(6):526-33. doi: 10.12809/hkmj154750. Epub 2016 Jul 29.
8
Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome.7 号染色体三体嵌合体产前误诊和患儿母源单亲二体性导致色素嵌合体和 Russell-Silver 综合征。
Clin Genet. 2012 Mar;81(3):265-71. doi: 10.1111/j.1399-0004.2010.01621.x. Epub 2011 Jan 19.
9
[Uniparental disomy 7 in the pathogenesis of Silver-Russell syndrome].[单亲二体7在Silver-Russell综合征发病机制中的作用]
Orv Hetil. 2001 Jul 22;142(29):1561-4.
10
Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.对具有Silver-Russell综合征样表型的6号、14号、16号和20号染色体的母源单亲二倍体和表观突变的检测。
BMC Med Genet. 2016 Mar 11;17:20. doi: 10.1186/s12881-016-0280-8.
引用本文的文献
1
Deep Brain Stimulation for an Unusual Presentation of Myoclonus Dystonia Associated with Russell-Silver Syndrome.深部脑刺激治疗 Russell-Silver 综合征相关肌阵挛-肌张力障碍的不典型表现
Tremor Other Hyperkinet Mov (N Y). 2023 Oct 30;13:40. doi: 10.5334/tohm.782. eCollection 2023.
2
Generalized Dystonia Due to KMT2B Mutation in a Patient with a Previous Diagnosis of Russell Silver Syndrome.一名曾被诊断为罗素-西尔弗综合征的患者因KMT2B突变导致的全身性肌张力障碍
Mov Disord Clin Pract. 2023 Aug 24;10(Suppl 3):S51-S53. doi: 10.1002/mdc3.13794. eCollection 2023 Aug.
3
Action Induced Myoclonus in a 11-Year-Old Boy with Silver-Russell Syndrome.一名患有Silver-Russell综合征的11岁男孩的动作诱发性肌阵挛
Mov Disord Clin Pract. 2023 Mar 20;10(6):1013-1015. doi: 10.1002/mdc3.13724. eCollection 2023 Jun.
本文引用的文献
1
Myoclonus-dystonia syndrome associated with Russell Silver syndrome.与罗素-西尔弗综合征相关的肌阵挛-肌张力障碍综合征
Mov Disord. 2013 Jun;28(6):841-2. doi: 10.1002/mds.25483. Epub 2013 May 23.
2
Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.由母源单亲二体 7 号染色体引起的肌阵挛-肌张力障碍和 Silver-Russell 综合征。
Clin Genet. 2013 Oct;84(4):368-72. doi: 10.1111/cge.12075. Epub 2013 Jan 20.
3
Epigenotype-phenotype correlations in Silver-Russell syndrome.银-罗素综合征的表型-基因型相关性。
J Med Genet. 2010 Nov;47(11):760-8. doi: 10.1136/jmg.2010.079111. Epub 2010 Aug 3.
4
Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7.母体单亲二体性 7 号染色体导致的非典型性 Silver-Russell 表型。
Am J Med Genet A. 2010 Sep;152A(9):2342-5. doi: 10.1002/ajmg.a.33590.
5
Myoclonus-dystonia due to maternal uniparental disomy.由于母源性单亲二体导致的肌阵挛性肌张力障碍
Arch Neurol. 2008 Oct;65(10):1380-5. doi: 10.1001/archneur.65.10.1380.
Zotero 插件