A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.
about
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1Microduplication and triplication of 22q11.2: a highly variable syndrome.Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patientsDetailed analysis of 22q11.2 with a high density MLPA probe setCytogenomic Aberrations in Congenital Cardiovascular MalformationsGenetic Syndromes associated with Congenital Heart DiseaseSubjective experience of episodic memory and metacognition: a neurodevelopmental approachStructure of the DNA-bound T-box domain of human TBX1, a transcription factor associated with the DiGeorge syndrome22q11 deletion syndrome: current perspective.Genetic Consideration of Schizotypal Traits: A ReviewModeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit developmentBehavioral and Psychiatric Phenotypes in 22q11.2 Deletion SyndromePrevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnanciesMOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndromeEstimating the Size of the U.S. Population at Risk of Severe Adverse Events from Replicating Smallpox Vaccine.22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia.Associations between prepulse inhibition and executive visual attention in children with the 22q11 deletion syndromeLower prepulse inhibition in children with the 22q11 deletion syndrome.Nogo Receptor 1 (RTN4R) as a candidate gene for schizophrenia: analysis using human and mouse genetic approaches.Evidence for involvement of GNB1L in autism.22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive casesMorphological appearance and chemical composition of enamel in primary teeth from patients with 22q11 deletion syndrome.Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndromePrevalence of 22q11.2 deletions in 311 Dutch patients with schizophreniaSearch for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorderVelo-Cardio-Facial Syndrome.Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India.MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22qInterrupted aortic arch type B in A patient with cat eye syndrome.Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome.Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our timesExamining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome.Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan's syndromeProdromal symptoms in adolescents with 22q11.2 deletion syndrome and schizotypal personality disorder.Proton magnetic resonance spectroscopy in 22q11 deletion syndrome.Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome.The effects of gender and catechol O-methyltransferase (COMT) Val108/158Met polymorphism on emotion regulation in velo-cardio-facial syndrome (22q11.2 deletion syndrome): An fMRI studyObstructive sleep apnea syndrome in children with 22q11.2 deletion syndrome after operative intervention for velopharyngeal insufficiencyCognitive and psychiatric predictors to psychosis in velocardiofacial syndrome: a 3-year follow-up study.Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus.
P2860
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P2860
A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
2003年论文
@zh
2003年论文
@zh-cn
name
A population-based study of th ...... rth defects in the population.
@en
A population-based study of th ...... rth defects in the population.
@nl
type
label
A population-based study of th ...... rth defects in the population.
@en
A population-based study of th ...... rth defects in the population.
@nl
prefLabel
A population-based study of th ...... rth defects in the population.
@en
A population-based study of th ...... rth defects in the population.
@nl
P2093
P356
P1433
P1476
A population-based study of th ...... rth defects in the population.
@en
P2093
Adolfo Correa
E Marsha Elixson
Karlene Coleman
Kristin May
Lee-Yang Wong
Leslie A O'Leary
Lorenzo D Botto
Paul M Fernhoff
Robert K Merritt
Robert M Campbell
P304
P356
10.1542/PEDS.112.1.101
P407
P433
P577
2003-07-01T00:00:00Z