Rett syndrome in a boy with a 47,XXY karyotype.
作者信息
Salomão Schwartzman J, Zatz M, dos Reis Vasquez L, Ribeiro Gomes R, Koiffmann C P, Fridman C, Guimarães Otto P
出版信息
Am J Hum Genet. 1999 Jun;64(6):1781-5. doi: 10.1086/302424.
Abstract
摘要
相似文献
1
Rett syndrome in a boy with a 47,XXY karyotype.一名核型为47,XXY的男孩患雷特综合征。
Am J Hum Genet. 1999 Jun;64(6):1781-5. doi: 10.1086/302424.
2
Cytogenetic and molecular-cytogenetic studies of Rett syndrome (RTT): a retrospective analysis of a Russian cohort of RTT patients (the investigation of 57 girls and three boys).雷特综合征（RTT）的细胞遗传学和分子细胞遗传学研究：俄罗斯雷特综合征患者队列的回顾性分析（对57名女孩和3名男孩的调查）
Brain Dev. 2001 Dec;23 Suppl 1:S196-201. doi: 10.1016/s0387-7604(01)00347-3.
3
Earlier finishing of Xp21.2 subband replication of the inactive X chromosome in Rett syndrome girl but not in her 47,XXX mother.
Clin Genet. 1997 Aug;52(2):120-5. doi: 10.1111/j.1399-0004.1997.tb02529.x.
4
[Rett phenotype in patient with XXY karyotype: case report].
Arq Neuropsiquiatr. 1998 Dec;56(4):824-8. doi: 10.1590/s0004-282x1998000500020.
5
Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?携带R133C突变的患者：他们的表型与患有其他突变的雷特综合征患者有差异吗？
J Med Genet. 2003 May;40(5):e52. doi: 10.1136/jmg.40.5.e52.
6
Rett syndrome: random X chromosome inactivation.雷特综合征：随机X染色体失活。
Clin Genet. 1994 May;45(5):274-5. doi: 10.1111/j.1399-0004.1994.tb04157.x.
7
Some remarks regarding the search for a genetic basis for Rett syndrome.
Hum Genet. 1991 Jun;87(2):242-4. doi: 10.1007/BF00204196.
8
X inactivation in Rett syndrome: a preliminary study showing partial preferential inactivation of paternal X with the M27 beta probe.雷特综合征中的X染色体失活：一项初步研究显示，使用M27β探针时父源X染色体存在部分优先失活。
Am J Med Genet. 1994 Apr 15;50(3):307-8. doi: 10.1002/ajmg.1320500321.
9
Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene.一名核型为47,XXY的男孩患雷特综合征，该病例经甲基化CpG结合蛋白2（MECP2）基因的罕见突变得以确诊。
Neuropediatrics. 2001 Jun;32(3):162-4. doi: 10.1055/s-2001-16620.
10
[Cytogenetic and molecular genetic diagnostics of Rett syndrome in children].
Zh Nevrol Psikhiatr Im S S Korsakova. 1998;98(4):53-6.
引用本文的文献
1
[MECP2 gene and MECP2-related diseases].[甲基化CpG结合蛋白2基因与甲基化CpG结合蛋白2相关疾病]
Zhongguo Dang Dai Er Ke Za Zhi. 2017 May;19(5):494-497. doi: 10.7499/j.issn.1008-8830.2017.05.002.
2
Brief report: systematic review of Rett syndrome in males.简短报告：男性雷特综合征的系统评价
J Autism Dev Disord. 2015 Oct;45(10):3377-83. doi: 10.1007/s10803-015-2519-1.
3
MECP2 disorders: from the clinic to mice and back.甲基化CpG结合蛋白2（MECP2）相关疾病：从临床到小鼠模型再回归临床
J Clin Invest. 2015 Aug 3;125(8):2914-23. doi: 10.1172/JCI78167.
4
Rett Syndrome: Reaching for Clinical Trials.雷特综合征：迈向临床试验
Neurotherapeutics. 2015 Jul;12(3):631-40. doi: 10.1007/s13311-015-0353-y.
5
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male.一名男性非致命性、非进行性脑病中的MECP2突变
J Med Genet. 2001 Mar;38(3):171-4. doi: 10.1136/jmg.38.3.171.
Zotero 插件