Genetic studies in intellectual disability and related disorders.
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Function Over Form: Modeling Groups of Inherited Neurological Conditions in ZebrafishNovelGNB1missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disabilityNew insights into the generation and role of de novo mutations in health and diseaseAutism As a Disorder of High IntelligenceDe Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeA gain-of-function mutation in the GRIK2 gene causes neurodevelopmental deficitsAutomated screening for Fragile X premutation carriers based on linguistic and cognitive computational phenotypes.Findings made in gene panel to whole genome sequencing: data, knowledge, ethics - and consequences?Links between mRNA splicing, mRNA quality control, and intellectual disabilityComprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.Targeted high throughput sequencing in hereditary ataxia and spastic paraplegiaTRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigreeBCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.mirDNMR: a gene-centered database of background de novo mutation rates in human.CASPR2 autoantibodies are raised during pregnancy in mothers of children with mental retardation and disorders of psychological development but not autism.Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders.Molecular diagnostics for hereditary hearing loss in children.Annual Research Review: Understudied populations within the autism spectrum - current trends and future directions in neuroimaging research.Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurologyPrenatal and pre-implantation genetic diagnosis.Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability.Epigenetic Mistakes in Neurodevelopmental Disorders.De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.Histone Lysine Methylation and Neurodevelopmental Disorders.De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.Loss-of-function variants of SCN8A in intellectual disability without seizures.Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.A Female Patient with FMR1 Premutation and Mosaic X Chromosome Aneuploidy and Two Sons with Intellectual Disability.A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.Germline Chd8 haploinsufficiency alters brain development in mouse.Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.
P2860
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P2860
Genetic studies in intellectual disability and related disorders.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年学术文章
@wuu
2015年学术文章
@zh-cn
2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
@yue
2015年學術文章
@zh
2015年學術文章
@zh-hant
name
Genetic studies in intellectual disability and related disorders.
@en
type
label
Genetic studies in intellectual disability and related disorders.
@en
prefLabel
Genetic studies in intellectual disability and related disorders.
@en
P2860
P356
P1476
Genetic studies in intellectual disability and related disorders.
@en
P2093
Lisenka E L M Vissers
P2860
P2888
P356
10.1038/NRG3999
P577
2015-10-27T00:00:00Z
P6179
1003600258