Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism
出版年份 2017 全文链接
标题
Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism
作者
关键词
Somatic mosaicism, Macrocephaly, Megalencephaly, Developmental delay, Autism spectrum disorder, <em class=EmphasisTypeItalic >PTEN</em>, <em class=EmphasisTypeItalic >MTOR</em>, <em class=EmphasisTypeItalic >PIK3CA</em>, <em class=EmphasisTypeItalic >PPP2R5D</em>
出版物
Molecular Autism
Volume 8, Issue 1, Pages -
出版商
Springer Nature
发表日期
2017-12-20
DOI
10.1186/s13229-017-0182-4
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。- Early brain development in infants at high risk for autism spectrum disorder
- (2017) Heather Cody Hazlett et al. NATURE
- Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
- (2017) Ryan K C Yuen et al. NATURE NEUROSCIENCE
- Autism genetics: opportunities and challenges for clinical translation
- (2017) Jacob A. S. Vorstman et al. NATURE REVIEWS GENETICS
- Sonographic screening for Wilms tumor in children with CLOVES syndrome
- (2017) Caitlin M. Peterman et al. PEDIATRIC BLOOD & CANCER
- Diagnosis of autism spectrum disorder: reconciling the syndrome, its diverse origins, and variation in expression
- (2016) John N Constantino et al. LANCET NEUROLOGY
- Association ofMTORMutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism
- (2016) Ghayda M. Mirzaa et al. JAMA Neurology
- A germlineMTORmutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces
- (2015) Gareth Baynam et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome
- (2015) Tobias Schwerd et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder
- (2015) Kristiina Tammimies et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability
- (2015) Gunnar Houge et al. JOURNAL OF CLINICAL INVESTIGATION
- Cowden's syndrome with immunodeficiency
- (2015) Michael J Browning et al. JOURNAL OF MEDICAL GENETICS
- Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia
- (2015) Mark Nellist et al. MOLECULAR GENETICS AND METABOLISM
- De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism
- (2015) Linshan Shang et al. NEUROGENETICS
- Head circumference and brain size in autism spectrum disorder: A systematic review and meta-analysis
- (2015) Roberto Sacco et al. PSYCHIATRY RESEARCH-NEUROIMAGING
- PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation
- (2014) Kim M. Keppler-Noreuil et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Autism spectrum disorder: advances in evidence-based practice
- (2014) E. Anagnostou et al. CANADIAN MEDICAL ASSOCIATION JOURNAL
- Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism
- (2014) T W Frazier et al. MOLECULAR PSYCHIATRY
- De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
- (2014) Ghayda M Mirzaa et al. NATURE GENETICS
- PI3K and cancer: lessons, challenges and opportunities
- (2014) David A. Fruman et al. NATURE REVIEWS DRUG DISCOVERY
- Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays
- (2014) J. B. Moeschler et al. PEDIATRICS
- Megalencephaly Syndromes: Exome Pipeline Strategies for Detecting Low-Level Mosaic Mutations
- (2014) William J. Tapper et al. PLoS One
- The Clinical Impact of Chromosomal Microarray on Paediatric Care in Hong Kong
- (2014) Victoria Q. Tao et al. PLoS One
- 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
- Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions
- (2013) G. Bradley Schaefer et al. GENETICS IN MEDICINE
- High cumulative risks of cancer in patients withPTENhamartoma tumour syndrome
- (2013) Virginie Bubien et al. JOURNAL OF MEDICAL GENETICS
- Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria
- (2013) R. Pilarski et al. JNCI-Journal of the National Cancer Institute
- Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency
- (2013) Carrie L Lucas et al. NATURE IMMUNOLOGY
- Phosphoinositide 3-Kinase Gene Mutation Predisposes to Respiratory Infection and Airway Damage
- (2013) I. Angulo et al. SCIENCE
- Lifetime Cancer Risks in Individuals with Germline PTEN Mutations
- (2012) M.-H. Tan et al. CLINICAL CANCER RESEARCH
- PTEN signaling in autism spectrum disorders
- (2012) Jing Zhou et al. CURRENT OPINION IN NEUROBIOLOGY
- Duodenal carcinoma in a 37-year-old man with Cowden/Bannayan syndrome
- (2012) Maurizio Ponz de Leon et al. DIGESTIVE AND LIVER DISEASE
- 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
- An Activating Mutation of AKT2 and Human Hypoglycemia
- (2011) K. Hussain et al. SCIENCE
- Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly
- (2010) Kim L. McBride et al. Autism Research
- Principal pathogenetic components and biological endophenotypes in autism spectrum disorders
- (2010) Roberto Sacco et al. Autism Research
- Clinical Genetic Testing for Patients With Autism Spectrum Disorders
- (2010) Y. Shen et al. PEDIATRICS
- The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly
- (2009) Elizabeth A Varga et al. GENETICS IN MEDICINE
- Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function
- (2009) Glenn P. Lobo et al. HUMAN MOLECULAR GENETICS
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAdd 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 Now