Richard Caswell Selected Research

Carrier Proteins (Binding Protein)

5/2008

Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata.

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Richard Caswell Research Topics

Disease

3	Mitochondrial Diseases (Mitochondrial Disease) 01/2022 - 10/2015
3	Infections 10/2010 - 11/2002
2	Hypoglycemia (Reactive Hypoglycemia) 01/2018 - 01/2017
1	Osteogenesis Imperfecta (Lobstein Disease) 11/2023
1	Neurodevelopmental Disorders 11/2023
1	Partial Epilepsies (Epilepsy, Partial) 01/2023
1	Focal Cortical Dysplasia 01/2023
1	Muscle Spasticity (Spastic) 12/2022
1	Cerebral Palsy (Spastic Diplegia) 12/2022
1	Spastic Paraparesis 12/2022
1	Neoplasms (Cancer) 01/2022
1	Robinow Syndrome 01/2022
1	Brachydactyly 01/2022
1	Deafness (Deaf Mutism) 01/2022
1	Lipodystrophy 01/2022
1	Angioid Streaks 10/2020
1	Polymorphic catecholergic ventricular tachycardia 06/2020
1	Cardiac Arrhythmias (Arrythmia) 06/2020
1	Sudden Death 06/2020
1	Liver Diseases (Liver Disease) 01/2020
1	Perinatal Death 01/2018
1	Diabetes Mellitus 01/2018
1	Neuroendocrine Tumors (Neuroendocrine Tumor) 01/2018
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2018
1	Polycystic Kidney Diseases (Polycystic Kidney Disease) 01/2017
1	Pituitary Neoplasms (Pituitary Adenoma) 01/2016
1	Exocrine Pancreatic Insufficiency 01/2016
1	Acromegaly 01/2016
1	Mitchell-Riley Syndrome 12/2015
1	Brain Diseases (Brain Disorder) 10/2015
1	Endometrial Neoplasms (Endometrial Cancer) 08/2013
1	Chondrodysplasia Punctata (Stippled Epiphyses) 05/2008

Drug/Important Bio-Agent (IBA)

6	Proteins (Proteins, Gene)FDA Link 01/2023 - 11/2002
4	DNA (Deoxyribonucleic Acid)IBA 01/2018 - 01/2005
2	Exonucleases (3' 5' Exonuclease)IBA 01/2022 - 08/2013
1	KinesinsIBA 11/2023
1	TOR Serine-Threonine KinasesIBA 01/2023
1	1-(2-(dodecyloxy)ethyl)pyrrolidine hydrochloride (DEP)IBA 01/2023
1	adducinIBA 12/2022
1	Retinaldehyde (Retinal)IBA 01/2022
1	Serine (L-Serine)FDA Link 01/2022
1	Indocyanine Green (Cardio-Green)FDA LinkGeneric 10/2020
1	Amino Acids FDA Link 06/2020
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 06/2020
1	Eukaryotic Initiation Factor-2B (Eukaryotic Initiation Factor 2B)IBA 01/2020
1	Insulin (Novolin)FDA Link 01/2018
1	phosphomannomutaseIBA 01/2017
1	G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA 01/2016
1	Transcription Factors (Transcription Factor)IBA 12/2015
1	Mitochondrial DNA (mtDNA)IBA 10/2015
1	ChromatinIBA 10/2010
1	emopamil (levemopamil)IBA 05/2008
1	Carrier Proteins (Binding Protein)IBA 05/2008
1	Messenger RNA (mRNA)IBA 01/2005
1	CytokinesIBA 01/2005
1	Interleukin-6 (Interleukin 6)IBA 01/2005

Therapy/Procedure

1	Critical Care (Surgical Intensive Care) 01/2022
1	Therapeutics 01/2016