Identification of novel genetic causes of Rett syndrome-like phenotypes.
about
Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.Epilepsy and intellectual disability linked protein Shrm4 interaction with GABABRs shapes inhibitory neurotransmissionGenetic regulation of gene expression in the epileptic human hippocampus.Autism spectrum disorder and epileptic encephalopathy: common causes, many questions.CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in cerebral organoids derived from iPS cells.Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.Regulation of mRNA Translation in Neurons-A Matter of Life and Death.A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.Nervous system development and disease: A focus on trithorax related proteins and chromatin remodelers.High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.Monogenic disorders that mimic the phenotype of Rett syndrome.GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.mRNA Translation Gone Awry: Translation Fidelity and Neurological Disease.Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots.A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6-year-old female.Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.Successful treatment of choreo-athetotic movements in a patient with an EEF1A2 gene variant
P2860
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P2860
Identification of novel genetic causes of Rett syndrome-like phenotypes.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh-hant
name
Identification of novel genetic causes of Rett syndrome-like phenotypes.
@en
Identification of novel genetic causes of Rett syndrome-like phenotypes.
@nl
type
label
Identification of novel genetic causes of Rett syndrome-like phenotypes.
@en
Identification of novel genetic causes of Rett syndrome-like phenotypes.
@nl
prefLabel
Identification of novel genetic causes of Rett syndrome-like phenotypes.
@en
Identification of novel genetic causes of Rett syndrome-like phenotypes.
@nl
P2093
P2860
P50
P1476
Identification of novel genetic causes of Rett syndrome-like phenotypes.
@en
P2093
Ana Isabel Dias
Eulália Calado
Gabriela Soares
Inger Jonasson
Isabel Fineza Cruz
Joaquim de Sá
José Pedro Vieira
Mafalda Barbosa
Pedro Cabral
Renata Oliveira
P2860
P304
P356
10.1136/JMEDGENET-2015-103568
P407
P50
P577
2016-01-06T00:00:00Z