Beverly S Emanuel Selected Research

DiGeorge Syndrome (Syndrome, DiGeorge)

1/2020	Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
1/2020	Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.
12/2018	Olfactory deficits and psychosis-spectrum symptoms in 22q11.2 deletion syndrome.
10/2018	The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome.
10/2018	22q and two: 22q11.2 deletion syndrome and coexisting conditions.
11/2017	Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.
1/2016	22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening.
12/2015	Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome.
5/2015	Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.
2/2015	Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.

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Beverly S Emanuel Research Topics

Disease

11	DiGeorge Syndrome (Syndrome, DiGeorge) 01/2020 - 09/2004
5	Genomic Instability 01/2021 - 06/2006
3	Genetic Translocation (Chromosomal Translocation) 01/2013 - 08/2004
2	Chromosome Aberrations (Chromosome Abnormalities) 07/2013 - 03/2006
1	Schizophrenia (Dementia Praecox) 01/2021
1	Craniosynostoses (Craniosynostosis) 01/2020
1	Anorectal Malformations 01/2020
1	Psychotic Disorders (Schizoaffective Disorder) 12/2018
1	Velopharyngeal Insufficiency 12/2018
1	Glucosephosphate Dehydrogenase Deficiency 10/2018
1	1.35-Mb Chromosome 1q21.1 Deletion Syndrome 10/2018
1	Cystic Fibrosis (Mucoviscidosis) 10/2018
1	Hypocalcemia 10/2018
1	von Willebrand Diseases (von Willebrand's Disease) 10/2018
1	CHARGE Syndrome 10/2018
1	Tuberous Sclerosis (Bourneville's Disease) 01/2016
1	Fragile X Syndrome (Martin Bell Syndrome) 01/2016
1	Autism Spectrum Disorder 01/2016
1	Autistic Disorder (Autism) 01/2016
1	Congenital Heart Defects (Congenital Heart Defect) 05/2015
1	Tetralogy of Fallot (Fallot Tetralogy) 02/2015
1	Chromosomal Instability (Chromosome Stability) 02/2009
1	Congenital Abnormalities (Deformity) 02/2009
1	Triploidy 03/2006
1	Tetraploidy 03/2006
1	Myoclonus (Nocturnal Myoclonus) 08/2003

Drug/Important Bio-Agent (IBA)

9	DNA (Deoxyribonucleic Acid)IBA 01/2021 - 03/2006
2	beta-cyclodextrin tetradecasulfate (CTDS)IBA 01/2020 - 02/2015
2	Catechol O-Methyltransferase (Methyltransferase, Catechol)IBA 12/2018 - 09/2004
2	Cruciform DNA (Holliday Junctions)IBA 01/2013 - 08/2004
2	B-Form DNA (B-DNA)IBA 02/2009 - 06/2006
1	Adenosine Triphosphate (ATP)IBA 01/2021
1	Proteins (Proteins, Gene)FDA Link 01/2020
1	Biomarkers (Surrogate Marker)IBA 12/2018
1	Blood Coagulation Factors (Coagulation Factor)IBA 10/2018
1	CalciumIBA 10/2018
1	EnzymesIBA 10/2018
1	IonsIBA 10/2018
1	Metabotropic Glutamate 5 ReceptorIBA 01/2016
1	Histones (Histone)IBA 12/2015
1	Facilitative Glucose Transport Proteins (Glucose Transporter)IBA 05/2015
1	HomocysteineIBA 02/2009
1	Folic Acid (Vitamin M)FDA LinkGeneric 02/2009
1	A-Form DNA (A-DNA)IBA 02/2009
1	Sarcoglycans (beta Sarcoglycan)IBA 08/2003

Therapy/Procedure

1	Transcranial Direct Current Stimulation 01/2016