Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia
出版年份 2015 全文链接
标题
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia
作者
关键词
-
出版物
ANNALS OF NEUROLOGY
Volume 77, Issue 4, Pages 720-725
出版商
Wiley
发表日期
2015-01-20
DOI
10.1002/ana.24357
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。- Megalencephaly and hemimegalencephaly: Breakthroughs in molecular etiology
- (2014) Ghayda M. Mirzaa et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Mutations in mammalian target of rapamycin regulatorDEPDC5cause focal epilepsy with brain malformations
- (2014) Ingrid E. Scheffer et al. ANNALS OF NEUROLOGY
- DEPDC5does it all: Shared genetics for diverse epilepsy syndromes
- (2014) Annapurna Poduri ANNALS OF NEUROLOGY
- Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including theAKT3gene
- (2014) V. Conti et al. CLINICAL GENETICS
- Preliminary Functional Assessment and Classification ofDEPDC5Variants Associated with Focal Epilepsy
- (2014) Melissa van Kranenburg et al. HUMAN MUTATION
- Somatic Mutations in Cerebral Cortical Malformations
- (2014) Saumya S. Jamuar et al. NEW ENGLAND JOURNAL OF MEDICINE
- Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain
- (2014) Xuyu Cai et al. Cell Reports
- Duplication ofAKT3as a cause of macrocephaly in duplication 1q43q44
- (2013) David Wang et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- AKT3andPIK3R2mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH
- (2013) K. Nakamura et al. CLINICAL GENETICS
- Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation
- (2013) J. B. Hiatt et al. GENOME RESEARCH
- Mutations in DEPDC5 cause familial focal epilepsy with variable foci
- (2013) Leanne M Dibbens et al. NATURE GENETICS
- Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
- (2013) Timothy W. Yu et al. NEURON
- Somatic Mutation, Genomic Variation, and Neurological Disease
- (2013) A. Poduri et al. SCIENCE
- Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome
- (2012) Kyle C. Kurek et al. AMERICAN JOURNAL OF HUMAN GENETICS
- mTOR Signaling in Growth Control and Disease
- (2012) Mathieu Laplante et al. CELL
- De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
- (2012) Jean-Baptiste Rivière et al. NATURE GENETICS
- De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
- (2012) Jeong Ho Lee et al. NATURE GENETICS
- Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations
- (2012) Annapurna Poduri et al. NEURON
- Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex
- (2011) Marianne Hoogeveen-Westerveld et al. HUMAN MUTATION
- Analysis of TSC Cortical Tubers by Deep Sequencing of TSC1, TSC2 and KRAS Demonstrates that Small Second-Hit Mutations in these Genes are Rare Events
- (2010) Wei Qin et al. BRAIN PATHOLOGY
- Tuberous Sclerosis Complex With a Single Brain Lesion on MRI Mimicking Focal Cortical Dysplasia
- (2010) Tugba Hirfanoglu et al. PEDIATRIC NEUROLOGY
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now