The phenotype of recurrent 10q22q23 deletions and duplications.
about
Deletion of glutamate delta-1 receptor in mouse leads to aberrant emotional and social behaviorsChallenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach.Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohortGenomics, intellectual disability, and autismRefining analyses of copy number variation identifies specific genes associated with developmental delayGenetic insights into the functional elements of language.Development of allosteric modulators of GPCRs for treatment of CNS disordersMonogenic and chromosomal causes of isolated speech and language impairment.Deletion of glutamate delta-1 receptor in mouse leads to enhanced working memory and deficit in fear conditioning.Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature.Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development.High rate of disease-related copy number variations in childhood onset schizophrenia.Genetic, physiological and comparative genomic studies of hypertension and insulin resistance in the spontaneously hypertensive ratSNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality control.Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology.Aortic dilation, genetic testing, and associated diagnoses.A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4.Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.A Boy with an LCR3/4-Flanked 10q22.3q23.2 Microdeletion and Uncommon Phenotypic Features.De Novo 1.77-Mb Microdeletion of 10q22.2q22.3 in a Girl With Developmental Delay, Speech Delay, Congenital Cleft Palate, and Bilateral Hearing Impairment.Prenatal detection of 10q22q23 duplications: dilemmas in phenotype prediction.On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion.Duplication of 10q22.3-q23.3 encompassing BMPR1A and NGR3 associated with congenital heart disease, microcephaly, and mild intellectual disability.BMPR1A mutations in early-onset colorectal cancer with mismatch repair proficiency.Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects.PTEN genomic deletions that characterize aggressive prostate cancer originate close to segmental duplicationsToward the Language Oscillogenome
P2860
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P2860
The phenotype of recurrent 10q22q23 deletions and duplications.
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունվարին հրատարակված գիտական հոդված
@hy
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
name
The phenotype of recurrent 10q22q23 deletions and duplications.
@ast
The phenotype of recurrent 10q22q23 deletions and duplications.
@en
The phenotype of recurrent 10q22q23 deletions and duplications.
@nl
type
label
The phenotype of recurrent 10q22q23 deletions and duplications.
@ast
The phenotype of recurrent 10q22q23 deletions and duplications.
@en
The phenotype of recurrent 10q22q23 deletions and duplications.
@nl
prefLabel
The phenotype of recurrent 10q22q23 deletions and duplications.
@ast
The phenotype of recurrent 10q22q23 deletions and duplications.
@en
The phenotype of recurrent 10q22q23 deletions and duplications.
@nl
P2093
P2860
P50
P356
P1476
The phenotype of recurrent 10q22q23 deletions and duplications.
@en
P2093
Angelo Selicorni
Ankita Patel
Barry Wolf
Bert B A de Vries
Bregje W M van Bon
Brendan Lee
Danielle Martinet
Diane L Broome
Eliane Roulet
Elizabeth Cameron
P2860
P2888
P304
P356
10.1038/EJHG.2010.211
P577
2011-01-19T00:00:00Z
P5875
P6179
1038043822