Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. - Wikidata - awgldk - TriplyDB

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.

http://www.wikidata.org/entity/Q34576300

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Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome.Switching modes in corticogenesis: mechanisms of neuronal subtype transitions and integration in the cerebral cortex A developmental and genetic classification for malformations of cortical development: update 2012 Dynamic FoxG1 expression coordinates the integration of multipolar pyramidal neuron precursors into the cortical plate Encoding, memory, and transcoding deficits in Childhood Apraxia of Speech.Clinical review of genetic epileptic encephalopathies 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 deletion The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.Genetic insights into the functional elements of language.Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH Epilepsy and outcome in FOXG1-related disorders Multiple faces of FoxM1 transcription factor: lessons from transgenic mouse models.Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite Dysregulation of FOXG1 by ring chromosome 14.Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.Autism spectrum disorder and epilepsy: Disorders with a shared biology.FOXG1-Related Disorders: From Clinical Description to Molecular Genetics.14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1(+/-) patients and in foxg1(+/-) mice 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.Genetic and biologic classification of infantile spasms.Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.Genetic disorders associated with postnatal microcephaly.E3 ubiquitin ligases in regulating stress fiber, lamellipodium, and focal adhesion dynamics.FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation.A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder.An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis.Questionable pathogenicity of FOXG1 duplication.Do regulatory regions matter in FOXG1 duplications?Infantile spasms are associated with abnormal copy number variations.Reply to Amor et al.An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.Higher O-GlcNAc Levels Are Associated with Defects in Progenitor Proliferation and Premature Neuronal Differentiation during in-Vitro Human Embryonic Cortical Neurogenesis.Regulatory variants of FOXG1 in the context of its topological domain organisation.

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P2860

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.

http://www.wikidata.org/entity/Q34576300

description

2010 nî lūn-bûn

@nan

2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

2010年の論文

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2010年論文

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2010年論文

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2010年論文

@zh-hk

2010年論文

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2010年論文

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2010年论文

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name

Duplications of FOXG1 in 14q12 ...... and severe speech impairment.

@ast

Duplications of FOXG1 in 14q12 ...... and severe speech impairment.

@en

Duplications of FOXG1 in 14q12 ...... and severe speech impairment.

@nl

type

label

Duplications of FOXG1 in 14q12 ...... and severe speech impairment.

@ast

Duplications of FOXG1 in 14q12 ...... and severe speech impairment.

@en

Duplications of FOXG1 in 14q12 ...... and severe speech impairment.

@nl

prefLabel

Duplications of FOXG1 in 14q12 ...... and severe speech impairment.

@ast

Duplications of FOXG1 in 14q12 ...... and severe speech impairment.

@en

Duplications of FOXG1 in 14q12 ...... and severe speech impairment.

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European Journal of Human Genetics

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Duplications of FOXG1 in 14q12 ...... and severe speech impairment.

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Alex R Paciorkowski

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Chiara Pantaleoni

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Christian P Schaaf

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Claudia Ruivenkamp

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Erika Della Mina

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Jeff Hughes

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Katia Rocchetti

http://www.w3.org/2001/XMLSchema#string

Maria Clara Bonaglia

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Mary Bertrand

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Naftha Jelluma

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P2860

PKCu is a novel, atypical member of the protein kinase C family

Human brain factor 1, a new member of the fork head gene family

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

FOXG1 is responsible for the congenital variant of Rett syndrome

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

The story of Rett syndrome: from clinic to neurobiology

Winged helix transcription factor BF-1 is essential for the development of the cerebral hemispheres

Foxg1 suppresses early cortical cell fate

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

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102-107

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10.1038/EJHG.2010.142

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1

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19

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45828199

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1034601694

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20736978

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3039509

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