Suppr超能文献

Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome.

作者信息

Meins M, Lehmann J, Gerresheim F, Herchenbach J, Hagedorn M, Hameister K, Epplen J T

出版信息

J Med Genet. 2005 Feb;42(2):e12. doi: 10.1136/jmg.2004.023804.

Abstract
摘要

相似文献

2
Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.
Pediatrics. 2006 Dec;118(6):e1687-95. doi: 10.1542/peds.2006-0395. Epub 2006 Nov 6.
3
MeCP2 dysfunction in Rett syndrome and related disorders.
Curr Opin Genet Dev. 2006 Jun;16(3):276-81. doi: 10.1016/j.gde.2006.04.009. Epub 2006 May 2.
5
[Rett syndrome: clinical and molecular aspects].
Cas Lek Cesk. 2007;146(8):647-52.
6
MECP2 mutations in Serbian Rett syndrome patients.
Acta Neurol Scand. 2007 Dec;116(6):413-9. doi: 10.1111/j.1600-0404.2007.00893.x.
10
Rett syndrome: from the gene to the disease.
Eur Neurol. 2009;61(1):3-10. doi: 10.1159/000165342. Epub 2008 Oct 24.

引用本文的文献

1
Epigenetic Regulation and Neurodevelopmental Disorders: From MeCP2 to the TCF20/PHF14 Complex.
Genes (Basel). 2024 Dec 23;15(12):1653. doi: 10.3390/genes15121653.
4
Sensory experiences questionnaire unravels differences in sensory profiles between MECP2-related disorders.
Autism Res. 2024 Apr;17(4):775-784. doi: 10.1002/aur.3112. Epub 2024 Mar 3.
5
MECP2-related disorders while gene-based therapies are on the horizon.
Front Genet. 2024 Feb 12;15:1332469. doi: 10.3389/fgene.2024.1332469. eCollection 2024.
6
Genetic analysis of a pedigree with MECP2 duplication syndrome in China.
BMC Med Genomics. 2024 Feb 19;17(1):54. doi: 10.1186/s12920-024-01831-9.
8
A screen for MeCP2-TBL1 interaction inhibitors using a luminescence-based assay.
Sci Rep. 2023 Mar 8;13(1):3868. doi: 10.1038/s41598-023-29915-z.
9
Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome.
BMC Med Genomics. 2023 Mar 6;16(1):43. doi: 10.1186/s12920-023-01465-3.
10
Rett Syndrome and Duplication Syndrome: Disorders of MeCP2 Dosage.
Neuropsychiatr Dis Treat. 2022 Nov 29;18:2813-2835. doi: 10.2147/NDT.S371483. eCollection 2022.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验