High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations.

High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations.

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http://www.wikidata.org/entity/Q38500985
Following the genes: a framework for animal modeling of psychiatric disordersBrain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyriaFamilial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrierGene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVsHigh resolution chromosomal microarray in undiagnosed neurological disorders.Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia.Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum.Array-based molecular karyotyping in fetal brain malformations: Identification of novel candidate genes and chromosomal regions.Copy number variations in children with brain malformations and refractory epilepsy.
P2860

High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations.

Item
http://www.wikidata.org/entity/Q38500985
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
High frequency of rare copy nu ...... tructural brain malformations.
@en
type
label
High frequency of rare copy nu ...... tructural brain malformations.
@en
prefLabel
High frequency of rare copy nu ...... tructural brain malformations.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
High frequency of rare copy nu ...... structural brain malformations
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698