The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
about
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalitiesA genetic model for neurodevelopmental diseaseThe essential role of Mbd5 in the regulation of somatic growth and glucose homeostasis in miceGenome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohortGenomic variants, genes, and pathways of Alzheimer's disease: An overview.Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletionPrioritization of neurodevelopmental disease genes by discovery of new mutations.Trapping MBD5 to understand 2q23.1 microdeletion syndrome.Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome.Disruption of an EHMT1-associated chromatin-modification module causes intellectual disabilityGenetic insights into the functional elements of language.Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.Severe intellectual disability and autistic features associated with microduplication 2q23.1.Molecular and Clinical Aspects of Angelman Syndrome.The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome.Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminusMBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.Extended spectrum of MBD5 mutations in neurodevelopmental disorders.Investigation of single-nucleotide variants in MBD5 associated with autism spectrum disorders and schizophrenia phenotypes."Idiopathic" mental retardation and new chromosomal abnormalities.Chromatin regulators, phenotypic robustness, and autism risk.Clinical and genetic aspects of Angelman syndrome.The Roles of the Methyl-CpG Binding Proteins in Cancer.Genetic variation in the epigenetic machinery and mental health.Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).Inherited 2q23.1 microdeletions involving the MBD5 locus.Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.A molecular model for neurodevelopmental disorders.Cognitive analysis of schizophrenia risk genes that function as epigenetic regulators of gene expression.Schizophrenia two-hit hypothesis in velo-cardio facial syndrome.Getting to the bottom of autism spectrum and related disorders: MBD5 as a key contributor.Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformations.Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature.
P2860
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P2860
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
description
2009 nî lūn-bûn
@nan
2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
@ast
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
@en
type
label
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
@ast
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
@en
prefLabel
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
@ast
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
@en
P2093
P2860
P50
P356
P1476
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
@en
P2093
Arjan P de Brouwer
Bernardo Dalla Bernardina
Bert B A de Vries
Bregje W M van Bon
Daniela Luciano
David A Koolen
Dominic McMullan
Fausta Piazza
Gregory Peters
Han G Brunner
P2507
P2860
P2888
P304
P356
10.1038/EJHG.2009.152
P50
P577
2009-10-07T00:00:00Z