Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
about
Adult expression of a 3q13.31 microdeletion.Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohortInvestigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.3p22.1p21.31 microdeletion identifies CCK as Asperger syndrome candidate gene and shows the way for therapeutic strategies in chromosome imbalances.NDE1 and NDEL1: twin neurodevelopmental proteins with similar 'nature' but different 'nurture'.SHANK3 haploinsufficiency: a "common" but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders.Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson's diseaseIdentification of novel candidate disease genes from de novo exonic copy number variants.Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.Array-CGH in children with mild intellectual disability: a population-based study.Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents.4q21 microdeletion in a patient with epilepsy and brain malformations.Genetic diagnosis and genetic counseling for androgen-insensitivity syndrome: a report of three cases.Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion
P2860
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P2860
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Application of custom-designed ...... h autistic spectrum disorders.
@en
type
label
Application of custom-designed ...... h autistic spectrum disorders.
@en
prefLabel
Application of custom-designed ...... h autistic spectrum disorders.
@en
P2093
P2860
P50
P356
P1476
Application of custom-designed ...... h autistic spectrum disorders.
@en
P2093
Barbara Wiśniowiecka-Kowalnik
Dorota Szumbarska
Ewa Bocian
Ewa Obersztyn
Ewa Ziemka
Katarzyna Derwińska
Krzysztof Szczałuba
Maciej Sykulski
Magdalena Bartnik
Monika Kastory-Bronowska
P2860
P2888
P304
P356
10.1038/EJHG.2012.219
P577
2012-10-03T00:00:00Z