Stephen W Scherer Selected Research

Bohring syndrome

1/2022

DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes.

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Stephen W Scherer Research Topics

Disease

20	Autistic Disorder (Autism) 08/2022 - 08/2004
16	Autism Spectrum Disorder 01/2022 - 12/2007
12	Neurodevelopmental Disorders 01/2022 - 05/2013
9	Neoplasms (Cancer) 12/2020 - 05/2005
9	Intellectual Disability (Idiocy) 01/2020 - 06/2008
8	Epilepsy (Aura) 01/2022 - 10/2003
5	Medulloblastoma 03/2014 - 06/2004
4	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 10/2021 - 08/2011
4	Schizophrenia (Dementia Praecox) 01/2016 - 05/2013
3	Mental Disorders (Mental Disorder) 01/2019 - 12/2012
3	Brain Diseases (Brain Disorder) 01/2019 - 12/2016
3	Colonic Neoplasms (Colon Cancer) 09/2014 - 06/2004
3	Lafora Disease 09/2012 - 10/2003
3	Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy) 09/2005 - 06/2003
2	Muscle Spasticity (Spastic) 02/2021 - 03/2015
2	Congenital Heart Defects (Congenital Heart Defect) 01/2021 - 01/2016
2	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2021 - 08/2005
2	Juvenile Arthritis (Juvenile Idiopathic Arthritis) 01/2020 - 12/2015
2	Tourette Syndrome (Tourette's Syndrome) 01/2018 - 01/2007
2	DiGeorge Syndrome (Syndrome, DiGeorge) 11/2017 - 01/2016
2	Seizures (Absence Seizure) 10/2017 - 05/2013
2	Obesity 01/2016 - 12/2012
1	Cardiomyopathies (Cardiomyopathy) 03/2022
1	Neuroblastoma 01/2022
1	Partial Epilepsies (Epilepsy, Partial) 01/2022
1	Bohring syndrome 01/2022
1	Colitis 11/2021
1	Agammaglobulinemia (Hypogammaglobulinemia) 11/2021
1	46,XY Gonadal Dysgenesis (Swyer Syndrome) 02/2021
1	Mucolipidosis II Alpha Beta 02/2021
1	Leigh Disease (Leigh's Disease) 02/2021
1	Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl) 02/2021
1	Floating-harbor syndrome 01/2021
1	Chronic Disease (Chronic Diseases) 01/2020
1	Weaver syndrome 01/2020
1	Inflammation (Inflammations) 01/2020
1	Ataxia (Dyssynergia) 11/2019
1	Inflammatory Bowel Diseases (Inflammatory Bowel Disease) 08/2019
1	Infantile Epileptic-Dyskinetic Encephalopathy 01/2019
1	Huntington Disease (Huntington's Disease) 01/2019
1	Anorexia Nervosa 01/2019
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2019
1	Tetralogy of Fallot (Fallot Tetralogy) 01/2019
1	Congenital Bone Marrow Failure Syndromes 01/2019
1	Dandy-Walker Syndrome (Dandy Walker Malformation) 01/2019
1	Hypopituitarism (Sheehan's Syndrome) 01/2018
1	Ewing Sarcoma (Sarcoma, Ewing) 01/2018

Drug/Important Bio-Agent (IBA)

31	Proteins (Proteins, Gene)FDA Link 02/2021 - 06/2003
7	DNA (Deoxyribonucleic Acid)IBA 10/2020 - 08/2008
4	Protein Isoforms (Isoforms)IBA 02/2013 - 02/2004
3	ChromatinIBA 01/2022 - 11/2014
3	Biological ProductsIBA 05/2020 - 07/2014
3	Biomarkers (Surrogate Marker)IBA 01/2020 - 03/2014
3	NucleotidesIBA 01/2016 - 02/2006
3	Histones (Histone)IBA 01/2015 - 04/2009
2	Oxytocin Receptors (Oxytocin Receptor)IBA 10/2021 - 01/2017
2	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 01/2021 - 01/2019
2	Amino Acids FDA Link 01/2019 - 07/2015
2	Peptide Hydrolases (Proteases)FDA Link 01/2018 - 01/2007
2	Nonsense Codon (Nonsense Mutation)IBA 04/2016 - 06/2010
2	Starch (Cornstarch)IBA 01/2016 - 06/2004
2	Pharmaceutical PreparationsIBA 01/2015 - 07/2014
2	MicroRNAs (MicroRNA)IBA 01/2015 - 03/2011
2	Brain-Derived Neurotrophic Factor (BDNF)IBA 05/2014 - 12/2012
2	NeuroliginsIBA 05/2013 - 08/2004
2	Cadherins (E-Cadherin)IBA 05/2013 - 01/2011
2	Lysine (L-Lysine)FDA Link 01/2013 - 04/2009
2	EnzymesIBA 11/2012 - 09/2012
2	GlycogenIBA 09/2012 - 02/2004
2	Carnitine (L-Carnitine)FDA LinkGeneric 05/2012 - 01/2003
2	beta CateninIBA 04/2007 - 06/2004
2	CationsIBA 08/2005 - 01/2003
1	TRPC6 Cation ChannelIBA 08/2022
1	Cytidine Monophosphate (CMP)IBA 03/2022
1	Mechanistic Target of Rapamycin Complex 1IBA 01/2022
1	Tetrodotoxin (Tetradotoxin)IBA 01/2022
1	Sodium Channel BlockersIBA 01/2022
1	Fibroblast Growth Factor 2 (Basic Fibroblast Growth Factor)IBA 01/2022
1	CTLA-4 AntigenIBA 11/2021
1	LipopolysaccharidesIBA 11/2021
1	Oxytocin (Pitocin)FDA LinkGeneric 10/2021
1	Hormones (Hormone)IBA 10/2021
1	mutalipocin IIIBA 02/2021
1	Long Noncoding RNAIBA 01/2020
1	Histone MethyltransferasesIBA 01/2020
1	Glutamine (L-Glutamine)FDA Link 11/2019
1	CytokinesIBA 08/2019
1	Glycoproteins (Glycoprotein)IBA 04/2019
1	Carrier Proteins (Binding Protein)IBA 01/2019
1	polyglutamineIBA 01/2019
1	Qa-SNARE Proteins (Syntaxin)IBA 01/2019
1	Neurotransmitter Agents (Neurotransmitter)IBA 01/2019
1	Dopamine (Intropin)FDA LinkGeneric 01/2019
1	LipidsIBA 01/2019
1	Growth Hormone (Somatotropin)IBA 01/2018
1	RNA-Binding Proteins (RNA-Binding Protein)IBA 01/2018
1	Proto-Oncogene Proteins c-etsIBA 01/2018

Therapy/Procedure

5	Therapeutics 01/2015 - 11/2006
1	Mechanical Ventilators (Ventilator) 01/2020
1	Intravenous Administration 01/2020