Megalencephaly and hemimegalencephaly: Breakthroughs in molecular etiology
Published 2014 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Megalencephaly and hemimegalencephaly: Breakthroughs in molecular etiology
Authors
Keywords
-
Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Volume 166, Issue 2, Pages 156-172
Publisher
Wiley
Online
2014-05-29
DOI
10.1002/ajmg.c.31401
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
- (2014) Ghayda M Mirzaa et al. NATURE GENETICS
- Duplication ofAKT3as a cause of macrocephaly in duplication 1q43q44
- (2013) David Wang et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Megalencephaly Syndromes and Activating Mutations in the PI3K-AKT Pathway: MPPH and MCAP
- (2013) GHAYDA M. MIRZAA et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Everolimus treatment of refractory epilepsy in tuberous sclerosis complex
- (2013) Darcy A. Krueger et al. ANNALS OF NEUROLOGY
- AKT3andPIK3R2mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH
- (2013) K. Nakamura et al. CLINICAL GENETICS
- Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly
- (2013) Judith A Hobert et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Focal malformations of cortical development: New vistas for molecular pathogenesis
- (2013) K.-C. Lim et al. NEUROSCIENCE
- 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
- Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
- (2012) Ghayda M. Mirzaa et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy
- (2012) Maurizio Elia et al. BRAIN & DEVELOPMENT
- Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly
- (2012) Jonathan J. Rios et al. HUMAN MOLECULAR GENETICS
- Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
- (2012) Ariana Kariminejad et al. JOURNAL OF CHILD NEUROLOGY
- Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA
- (2012) Marjorie J Lindhurst et al. NATURE GENETICS
- 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
- Everolimus for astrocytoma in tuberous sclerosis complex
- (2012) Katie Kingwell Nature Reviews Neurology
- Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations
- (2012) Annapurna Poduri et al. NEURON
- Neuropathological work-up of focal cortical dysplasias using the new ILAE consensus classification system – practical guideline article invited by the Euro-CNS Research Committee
- (2011) I. Blümcke et al. CLINICAL NEUROPATHOLOGY
- The phenotype of recurrent 10q22q23 deletions and duplications
- (2011) Bregje W M van Bon et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Hemimegalencephalic variant of epidermal nevus syndrome: Case report and literature review
- (2011) Elena Pavlidis et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44
- (2011) Blake C. Ballif et al. HUMAN GENETICS
- A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome
- (2011) Marjorie J. Lindhurst et al. NEW ENGLAND JOURNAL OF MEDICINE
- A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands
- (2010) Min-Han Tan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Biallelic TSC gene inactivation in tuberous sclerosis complex
- (2010) P. B. Crino et al. NEUROLOGY
- Contralateral hemimicrencephaly in neonatal hemimegalencephaly
- (2010) Mark S. Shiroishi et al. PEDIATRIC RADIOLOGY
- Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth
- (2009) Valérie Malan et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
- (2009) M. Shinawi et al. JOURNAL OF MEDICAL GENETICS
- Cyclin D2 Is Critical for Intermediate Progenitor Cell Proliferation in the Embryonic Cortex
- (2009) S. B. Glickstein et al. JOURNAL OF NEUROSCIENCE
- Pharmacological Inhibition of mTORC1 Suppresses Anatomical, Cellular, and Behavioral Abnormalities in Neural-Specific Pten Knock-Out Mice
- (2009) J. Zhou et al. JOURNAL OF NEUROSCIENCE
- Clinical and imaging characteristics of localized megalencephaly: a retrospective comparison of diffuse hemimegalencephaly and multilobar cortical dysplasia
- (2009) Masumi Nakahashi et al. NEURORADIOLOGY
- Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
- (2008) Nicola Brunetti-Pierri et al. NATURE GENETICS
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started