Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature
about
A 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.Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language ImpairmentReproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome.The human clinical phenotypes of altered CHRNA7 copy numberWhole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion SyndromeA rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disabilityClinical and Genetic Heterogeneity of the 15q13.3 Microdeletion SyndromeAssessment of Cognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome.CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents.Primer Part 1-The building blocks of epilepsy genetics.An update on the comorbidity of ADHD and ASD: a focus on clinical management.15q13.3 homozygous knockout mouse model display epilepsy-, autism- and schizophrenia-related phenotypes.Reproductive genetic testing and human genetic variation in the era of genomic medicine.Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells.Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.The complex behavioral phenotype of 15q13.3 microdeletion syndrome.Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome.OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6-year-old female.Association 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
Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature
description
2014 nî lūn-bûn
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年论文
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2014年论文
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name
Delineating the 15q13.3 microd ...... nsive review of the literature
@ast
Delineating the 15q13.3 microd ...... nsive review of the literature
@en
type
label
Delineating the 15q13.3 microd ...... nsive review of the literature
@ast
Delineating the 15q13.3 microd ...... nsive review of the literature
@en
prefLabel
Delineating the 15q13.3 microd ...... nsive review of the literature
@ast
Delineating the 15q13.3 microd ...... nsive review of the literature
@en
P2093
P2860
P356
P1433
P1476
Delineating the 15q13.3 microd ...... nsive review of the literature
@en
P2093
Anath C Lionel
Anne S Bassett
Candice K Silversides
Chelsea Lowther
Christian R Marshall
Danielle M Andrade
Dimitri J Stavropoulos
Gregory Costain
Hanna Faghfoury
P2860
P2888
P304
P356
10.1038/GIM.2014.83
P407
P577
2014-07-31T00:00:00Z