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Tony J Simon Selected Research

DiGeorge Syndrome (Syndrome, DiGeorge)

1/2020Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
9/2015Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome.
5/2015Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.
4/2015Disrupted fornix integrity in children with chromosome 22q11.2 deletion syndrome.
1/2014The development of cognitive control in children with chromosome 22q11.2 deletion syndrome.
1/2014Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome.
11/2012An examination of the relationship of anxiety and intelligence to adaptive functioning in children with chromosome 22q11.2 deletion syndrome.
11/2011Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
2/2010Increased incidence and size of cavum septum pellucidum in children with chromosome 22q11.2 deletion syndrome.
3/2009Catechol-O-methyltransferase polymorphism modulates cognitive control in children with chromosome 22q11.2 deletion syndrome.
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Tony J Simon Research Topics

Disease

11DiGeorge Syndrome (Syndrome, DiGeorge)
01/2020 - 09/2004
3Schizophrenia (Dementia Praecox)
01/2020 - 06/2010
2Fragile X Tremor Ataxia Syndrome
05/2022 - 12/2013
2Autistic Disorder (Autism)
12/2011 - 09/2008
1Psychotic Disorders (Schizoaffective Disorder)
01/2018
1Congenital Heart Defects (Congenital Heart Defect)
05/2015
1Cognitive Dysfunction
04/2015
1Neurodegenerative Diseases (Neurodegenerative Disease)
12/2013
1Agoraphobia
11/2012
1Obsessive-Compulsive Disorder (Disorder, Obsessive-Compulsive)
11/2012
1Mental Disorders (Mental Disorder)
03/2011

Drug/Important Bio-Agent (IBA)

3Biomarkers (Surrogate Marker)IBA
05/2022 - 02/2010
3Biological ProductsIBA
01/2020 - 12/2011
3Catechol O-Methyltransferase (Methyltransferase, Catechol)IBA
01/2014 - 09/2004
1beta-cyclodextrin tetradecasulfate (CTDS)IBA
01/2020
1citrate-binding transport proteinIBA
09/2015
1Facilitative Glucose Transport Proteins (Glucose Transporter)IBA
05/2015
1Indicators and Reagents (Reagents)IBA
04/2015
1MicroRNAs (MicroRNA)IBA
01/2014
1Messenger RNA (mRNA)IBA
12/2013
15- oxo- 5H- benzo(e)isochromeno(4,3- b)indole (R 47)IBA
11/2012
1Transcription Factors (Transcription Factor)IBA
11/2011
1GlucocorticoidsIBA
03/2011
1DNA (Deoxyribonucleic Acid)IBA
06/2010
1Dopamine (Intropin)FDA LinkGeneric
03/2009

Therapy/Procedure

1Anesthesia
09/2008