Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype.
about
Genetics of bipolar disorderTargeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.Modulatory effects of α7 nAChRs on the immune system and its relevance for CNS disordersChannelopathy pathogenesis in autism spectrum disordersA mouse model of the 15q13.3 microdeletion syndrome shows prefrontal neurophysiological dysfunctions and attentional impairment.Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes.Reduced CHRNA7 expression in C3H mice is associated with increases in hippocampal parvalbumin and glutamate decarboxylase-67 (GAD67) as well as altered levels of GABA(A) receptor subunits.Cortical parvalbumin GABAergic deficits with α7 nicotinic acetylcholine receptor deletion: implications for schizophrenia.PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication.Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literatureCopy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language ImpairmentThe human clinical phenotypes of altered CHRNA7 copy numberLong-lasting changes in neural networks to compensate for altered nicotinic input.Modulation of aggressive behavior in mice by nicotinic receptor subtypes.Reduction of Aggressive Episodes After Repeated Transdermal Nicotine Administration in a Hospitalized Adolescent with Autism Spectrum DisorderGenome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome.Ohnologs are overrepresented in pathogenic copy number mutations.Cortical synaptic NMDA receptor deficits in α7 nicotinic acetylcholine receptor gene deletion models: implications for neuropsychiatric diseases.Whole-genome copy number variation analysis in anophthalmia and microphthalmia.New genes for focal epilepsies with speech and language disorders.Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications.CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents.15q13.3 homozygous knockout mouse model display epilepsy-, autism- and schizophrenia-related phenotypes.Clinical utility gene card for: 15q13.3 microdeletion syndrome.Bidirectional Regulation of Aggression in Mice by Hippocampal Alpha-7 Nicotinic Acetylcholine Receptors.The complex behavioral phenotype of 15q13.3 microdeletion syndrome.Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome.Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities.A time to listen: perinatal smoking affects the development of temporal sound processing.Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay.A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome.The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibilitySynaptic DisordersExcellent outcome with de novo 15q13.3 microdeletion causing infantile spasms-A further patientAssociation study and mutation sequencing of genes on chromosome 15q11-q13 identified GABRG3 as a susceptibility gene for autism in Chinese Han population9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus
P2860
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P2860
Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
Identification of single gene ...... rodeletion syndrome phenotype.
@en
Identification of single gene ...... rodeletion syndrome phenotype.
@nl
type
label
Identification of single gene ...... rodeletion syndrome phenotype.
@en
Identification of single gene ...... rodeletion syndrome phenotype.
@nl
prefLabel
Identification of single gene ...... rodeletion syndrome phenotype.
@en
Identification of single gene ...... rodeletion syndrome phenotype.
@nl
P2093
P2860
P1433
P1476
Identification of single gene ...... rodeletion syndrome phenotype.
@en
P2093
D W Superneau
N Hoppman-Chaney
P2860
P304
P356
10.1111/J.1399-0004.2012.01925.X
P577
2012-08-07T00:00:00Z