标题
Novel West syndrome candidate genes in a Chinese cohort
作者
关键词
-
出版物
CNS Neuroscience & Therapeutics
Volume -, Issue -, Pages -
出版商
Wiley
发表日期
2018-04-18
DOI
10.1111/cns.12860
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Calcium Dynamics Mediated by the Endoplasmic/Sarcoplasmic Reticulum and Related Diseases
- (2017) et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function
- (2017) Wenjuan Chen et al. JOURNAL OF HUMAN GENETICS
- Regulation of Calcium Homeostasis by ER Redox: A Close-Up of the ER/Mitochondria Connection
- (2017) Alexander L. Chernorudskiy et al. JOURNAL OF MOLECULAR BIOLOGY
- Neuronal Ryanodine Receptors in Development and Aging
- (2017) Nawaf Abu-Omar et al. MOLECULAR NEUROBIOLOGY
- Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching
- (2017) Ahmed Arafat et al. Scientific Reports
- Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures
- (2016) Slavé Petrovski et al. AMERICAN JOURNAL OF HUMAN GENETICS
- De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
- (2016) Candace T. Myers et al. AMERICAN JOURNAL OF HUMAN GENETICS
- GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
- (2016) Dong Li et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome
- (2016) Nan Gai et al. CLINICA CHIMICA ACTA
- Analysis copy number variation of Chinese children in early-onset epileptic encephalopathies with unknown cause
- (2016) Y. Ma et al. CLINICAL GENETICS
- Infantile spasms and 15q11.2q13.1 chromosome duplication in two successive generations
- (2016) Raili Sylvia Riikonen et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Endothelial nitric oxide synthase: From biochemistry and gene structure to clinical implications of NOS3 polymorphisms
- (2016) Gustavo H. Oliveira-Paula et al. GENE
- Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features
- (2016) Qing Ouyang et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies
- (2016) Xiaole Wang et al. Scientific Reports
- TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
- (2015) Jason A. O’Rawe et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics
- (2015) Jo M. Wilmshurst et al. EPILEPSIA
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
- (2014) Silke Appenzeller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Fragile X-like behaviors and abnormal cortical dendritic spines in Cytoplasmic FMR1-interacting protein 2-mutant mice
- (2014) Kihoon Han et al. HUMAN MOLECULAR GENETICS
- A Rising Titan:TTNReview and Mutation Update
- (2014) Claire Chauveau et al. HUMAN MUTATION
- Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR
- (2014) A Oguro-Ando et al. MOLECULAR PSYCHIATRY
- Fragile X Syndrome: A Review of Associated Medical Problems
- (2014) S. A. Kidd et al. PEDIATRICS
- CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome
- (2014) Sabiha Abekhoukh et al. Frontiers in Cellular Neuroscience
- De novo mutations in epileptic encephalopathies
- (2013) et al. NATURE
- GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction
- (2013) Gaetan Lesca et al. NATURE GENETICS
- GRIN2A mutations cause epilepsy-aphasia spectrum disorders
- (2013) Gemma L Carvill et al. NATURE GENETICS
- Translation drives mRNA quality control
- (2012) Christopher J Shoemaker et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- Haploinsufficiency of Cyfip1 Produces Fragile X-Like Phenotypes in Mice
- (2012) Ozlem Bozdagi et al. PLoS One
- Immune function genes CD99L2, JARID2 and TPO show association with autism spectrum disorder
- (2012) Paula S Ramos et al. Molecular Autism
- Maternally Derived Microduplications at 15q11-q13: Implication of Imprinted Genes in Psychotic Illness
- (2011) Andrés Ingason et al. AMERICAN JOURNAL OF PSYCHIATRY
- FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
- (2011) Jennifer C. Darnell et al. CELL
- How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
- (2011) Siddharth Banka et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class
- (2011) Sarika U. Peters et al. JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- A non-canonical start codon in the Drosophila fragile X gene yields two functional isoforms
- (2011) R.W. Beerman et al. NEUROSCIENCE
- Prader-Willi syndrome and Angelman syndrome
- (2010) Karin Buiting AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy
- (2010) Manju A. Kurian et al. BRAIN
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation
- (2008) Guy Froyen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- IUPHAR-DB: the IUPHAR database of G protein-coupled receptors and ion channels
- (2008) Anthony J. Harmar et al. NUCLEIC ACIDS RESEARCH
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