Velo-Cardio-Facial Syndrome (Q33612908)

28 July 2017

Velo-Cardio-Facial Syndrome (English)

1 reference

28 July 2017

4

Abraham Weizman

1 reference

28 July 2017

Doron Gothelf

1

1 reference

28 July 2017

Amos Frisch

series ordinal

2

1 reference

28 July 2017

Elena Michaelovsky

series ordinal

3

1 reference

28 July 2017

Robert J Shprintzen

series ordinal

5

1 reference

28 July 2017

1 April 2009

1 reference

Journal of Mental Health Research in Intellectual Disabilities

28 July 2017

1 reference

28 July 2017

2

1 reference

28 July 2017

2

1 reference

28 July 2017

149-167

1 reference

Proline affects brain function in 22q11DS children with the low activity COMT 158 allele

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Velo-cardio-facial syndrome: 30 Years of study

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Strong association of de novo copy number mutations with sporadic schizophrenia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Developmental trajectories of brain structure in adolescents with 22q11.2 deletion syndrome: a longitudinal study

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

From genes to brain: understanding brain development in neurogenetic disorders using neuroimaging techniques

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Strong association of de novo copy number mutations with autism

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Childhood autism and associated comorbidities

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Modeling madness in mice: one piece at a time

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Association of the low-activity COMT 158Met allele with ADHD and OCD in subjects with velocardiofacial syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: Neuropsychological and behavioral implications

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

A gender-moderated effect of a functional COMT polymorphism on prefrontal brain morphology and function in velo-cardio-facial syndrome (22q11.2 deletion syndrome).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Catechol-o-methyltransferase, cognition, and psychosis: Val158Met and beyond

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Defining the clinical spectrum of deletion 22q11.2

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Visuospatial and numerical cognitive deficits in children with chromosome 22q11.2 deletion syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Adolescents and young adults with 22q11 deletion syndrome: psychopathology in an at-risk group.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Hyperprolinemia is a risk factor for schizoaffective disorder

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Functional analysis of genetic variation in catechol-O-methyltransferase (COMT): effects on mRNA, protein, and enzyme activity in postmortem human brain

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Networks of attention in children with the 22q11 deletion syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Evidence for association between novel polymorphisms in the PRODH gene and schizophrenia in a Chinese population

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Evidence that the gene encoding ZDHHC8 contributes to the risk of schizophrenia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

A comprehensive analysis of 22q11 gene expression in the developing and adult brain

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Meta-analysis of the association between the catecholamine-O-methyl-transferase gene and obsessive-compulsive disorder

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

The schizophrenia phenotype in 22q11 deletion syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Association between PRODH and schizophrenia is not confirmed

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Association between a functional catechol O-methyltransferase gene polymorphism and schizophrenia: meta-analysis of case-control and family-based studies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Genetic variation in the 22q11 locus and susceptibility to schizophrenia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

PRODH mutations and hyperprolinemia in a subset of schizophrenic patients

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

22q11 DS: genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Increased basal ganglia volumes in velo-cardio-facial syndrome (deletion 22q11.2).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Chromosomal microdeletions: dissecting del22q11 syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Effect of COMT Val108/158 Met genotype on frontal lobe function and risk for schizophrenia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Velo-cardio-facial syndrome: a distinctive behavioral phenotype

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

The gene encoding proline dehydrogenase modulates sensorimotor gating in mice

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Catechol-O-methyltransferase-deficient mice exhibit sexually dimorphic changes in catecholamine levels and behavior

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

22q11 deletion syndrome in adults with schizophrenia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Anomalies associated with cleft lip, cleft palate, or both

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Screening for 22q11 deletions in a schizophrenia population.

14 July 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

COMT Val108/158 Met modifies mismatch negativity and cognitive function in 22q11 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

Functional brain imaging study of mathematical reasoning abilities in velocardiofacial syndrome (del22q11.2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

Children and adolescents with velocardiofacial syndrome: a volumetric MRI study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

Psychiatric disorders and behavioral problems in children with velocardiofacial syndrome: usefulness as phenotypic indicators of schizophrenia risk.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

An investigation of the neuropsychological profile in adults with velo-cardio-facial syndrome (VCFS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

Regional cortical white matter reductions in velocardiofacial syndrome: a volumetric MRI analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

Impact of complex genetic variation in COMT on human brain function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

High rates of schizophrenia in adults with velo-cardio-facial syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

Transcriptional and behavioral interaction between 22q11.2 orthologs modulates schizophrenia-related phenotypes in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome: an integrative study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

ADHD symptoms in children with FXS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

Brain anatomy in adults with velocardiofacial syndrome with and without schizophrenia: preliminary results of a structural magnetic resonance imaging study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

Effects of a functional COMT polymorphism on brain anatomy and cognitive function in adults with velo-cardio-facial syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

Association between a common haplotype in the COMT gene region and psychiatric disorders in individuals with 22q11.2DS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

Children's Self-Reported Psychotic Symptoms and Adult Schizophreniform Disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

Genetic variation in COMT and PRODH is associated with brain anatomy in patients with schizophrenia.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion).

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

ADHD, major depressive disorder, and simple phobias are prevalent psychiatric conditions in youth with velocardiofacial syndrome.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

[Insufficiency of palatolaryngeal passage as a developmental disorder.]

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2811959

22q11 deletion syndrome in childhood onset schizophrenia: an update

30 October 2018

1 reference

https://api.crossref.org/works/10.1080%2F19315860902756136

Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2)

21 January 2018

1 reference

12 December 2020

Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome

1 reference

12 December 2020

Congenital heart disease in mice deficient for the DiGeorge syndrome region

1 reference

12 December 2020

Velocardiofacial manifestations and microdeletions in schizophrenic inpatients

1 reference

12 December 2020

Familial deletions of chromosome 22q11: the Leuven experience

1 reference

12 December 2020

ADHD symptoms and insistence on sameness in Prader-Willi syndrome

1 reference

12 December 2020

The syndrome of the congenitally shortened velum. The dual innervation of the soft palate

1 reference

12 December 2020

Frequency of 22q11 deletions in patients with conotruncal defects

1 reference

12 December 2020

Velo-cardio-facial syndrome: Implications of microdeletion 22q11 for schizophrenia and mood disorders

1 reference

12 December 2020

Tetralogy of Fallot associated with chromosome 22q11.2 deletion in adolescents and young adults

1 reference

12 December 2020

Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome

1 reference

12 December 2020

10.1080/19315860902756136

Identifiers

DOI

1 reference

28 July 2017

1 reference

28 July 2017

1 reference