Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children.
about
Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes.Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.Receptor-like protein-tyrosine phosphatase α enhances cell surface expression of neural adhesion molecule NB-3.De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypesNovel microduplication of CHL1 gene in a patient with autism spectrum disorder: a case report and a brief literature review.3p deletion syndrome: implications for cochlear implantation.Microduplication of 3p26.3 implicated in cognitive development.A rare chromosome 3 imbalance and its clinical implications.Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization.Age-dependent loss of parvalbumin-expressing hippocampal interneurons in mice deficient in CHL1, a mental retardation and schizophrenia susceptibility gene.3p26.3 terminal deletions: a challenge for prenatal genetic counseling.Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants
P2860
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P2860
Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children.
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
Microarray based analysis of a ...... to his two affected children.
@en
type
label
Microarray based analysis of a ...... to his two affected children.
@en
prefLabel
Microarray based analysis of a ...... to his two affected children.
@en
P2093
P2860
P356
P1476
Microarray based analysis of a ...... to his two affected children.
@en
P2093
Cristina Cuoco
Frédérique Béna
Giorgio Gimelli
Margherita Lerone
Maria Teresa Divizia
Marisol Mirabelli-Badenier
Monica Mascaretti
Patrizia Ronchetto
Stefania Gimelli
P2860
P2888
P356
10.1186/1750-1172-6-12
P577
2011-04-01T00:00:00Z
P5875
P6179
1053402369