Megalencephaly Syndromes and Activating Mutations in the PI3K-AKT Pathway: MPPH and MCAP
出版年份 2013 全文链接
标题
Megalencephaly Syndromes and Activating Mutations in the PI3K-AKT Pathway: MPPH and MCAP
作者
关键词
-
出版物
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Volume 163, Issue 2, Pages 122-130
出版商
Wiley
发表日期
2013-04-17
DOI
10.1002/ajmg.c.31361
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome
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- Germline PIK3CA and AKT1 Mutations in Cowden and Cowden-like Syndromes
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- Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
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- PIK3CA Mutations Frequently Coexist with RAS and BRAF Mutations in Patients with Advanced Cancers
- (2011) Filip Janku et al. PLoS One
- New Routes to Old Places: PIK3R1 and PIK3R2 Join PIK3CA and PTEN as Endometrial Cancer Genes
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- Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria
- (2010) Víctor Martínez-Glez et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice
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- Syndrome of Megalencephaly, Polydactyly, and Polymicrogyria Lacking Frank Hydrocephalus, with Associated MR Imaging Findings: Fig 1.
- (2009) H.G. Tore et al. AMERICAN JOURNAL OF NEURORADIOLOGY
- Macrocephaly-Capillary Malformation: A Report of Three Cases and Review of the Literature
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- Regulation of phosphoinositide 3-kinase expression in health and disease
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- Megalencephaly, Polymicrogyria, and Hydrocephalus (MPPH) Syndrome: A New Case With Syndactyly
- (2008) Tiziana Pisano et al. JOURNAL OF CHILD NEUROLOGY
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