Debra E Weese-Mayer Selected Research

Congenital central hypoventilation syndrome

11/2018	Perioperative anesthetic management of children with congenital central hypoventilation syndrome and rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation undergoing thoracoscopic phrenic nerve-diaphragm pacemaker implantation.
11/2015	Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome.
8/2015	Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome.
11/2012	A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease.
1/2009	Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene.
11/2006	Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
8/2006	Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome.
2/2002	Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation.

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Debra E Weese-Mayer Research Topics

Disease

16	Sudden Infant Death (SID) 12/2013 - 03/2003
8	Congenital central hypoventilation syndrome 11/2018 - 02/2002
5	Hypoventilation 11/2018 - 10/2006
4	Hypoxia (Hypoxemia) 01/2019 - 01/2009
3	Hypercapnia 01/2019 - 02/2014
3	Bradycardia 11/2018 - 01/2008
2	Hyperoxia 01/2019 - 02/2014
2	Obesity 11/2018 - 09/2011
2	Hypothermia 11/2018 - 09/2011
2	Hirschsprung Disease (Hirschsprung's Disease) 11/2015 - 11/2006
2	Lung Diseases (Lung Disease) 11/2012 - 09/2002
2	Seizures (Absence Seizure) 09/2011 - 01/2009
2	Sudden Death 03/2009 - 03/2008
1	Critical Illness (Critically Ill) 01/2022
1	Nervous System Diseases (Neurological Disorders) 11/2020
1	Rett Syndrome (Rett's Disorder) 11/2020
1	Nausea 11/2018
1	Pain (Aches) 11/2018
1	Postoperative Pain 11/2018
1	Narcolepsy 01/2016
1	Neuroblastoma 11/2015
1	Hypothyroidism 09/2011
1	Ganglioneuroblastoma 09/2011
1	Neurogenic Diabetes Insipidus (Central Diabetes Insipidus) 09/2011
1	Scoliosis 09/2011
1	Infant Death 07/2009
1	Obstructive Sleep Apnea 01/2009
1	Apnea 01/2008
1	Hypoglycemia (Reactive Hypoglycemia) 04/2007
1	Inflammation (Inflammations) 04/2007
1	Infections 04/2007
1	Neoplasms (Cancer) 11/2006
1	Unexplained Event Resolved Brief 09/2002

Drug/Important Bio-Agent (IBA)

6	Serotonin Plasma Membrane Transport Proteins (Serotonin Transporter)IBA 07/2009 - 03/2003
5	Proteins (Proteins, Gene)FDA Link 01/2016 - 03/2003
5	polyalanineIBA 11/2015 - 08/2006
4	DNA (Deoxyribonucleic Acid)IBA 01/2019 - 07/2006
4	Serotonin (5 Hydroxytryptamine)IBA 08/2009 - 08/2007
3	Carbon DioxideIBA 02/2014 - 09/2002
2	Anesthetics (Anesthetic Agents)IBA 11/2018 - 01/2009
2	Pituitary Adenylate Cyclase-Activating Polypeptide (PACAP)IBA 12/2013 - 03/2009
2	Peptides (Polypeptides)IBA 12/2013 - 03/2009
2	Hemoglobins (Hemoglobin)IBA 03/2008 - 01/2008
2	Nicotine FDA Link 04/2007 - 07/2006
2	4- ethoxymethylene- 2- phenyl- 2- oxazoline- 5- one (phOx)IBA 11/2006 - 08/2006
1	Biomarkers (Surrogate Marker)IBA 01/2022
1	Methyl-CpG-Binding Protein 2IBA 11/2020
1	Vasopressins (Vasopressin)IBA 11/2018
1	Cholinergic Antagonists (Anticholinergics)IBA 11/2018
1	Opioid Analgesics (Opioids)IBA 11/2018
1	OrexinsIBA 01/2016
1	NBPhox proteinIBA 08/2015
1	Oxygen (Dioxygen)IBA 02/2014
1	NitrogenIBA 02/2014
1	Type I Pituitary Adenylate Cyclase-Activating Polypeptide ReceptorsIBA 12/2013
1	Growth Hormone (Somatotropin)IBA 09/2011
1	SmokeIBA 07/2009
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 03/2009
1	Aspartic Acid (Aspartate)FDA Link 03/2009
1	Serotonin ReceptorsIBA 01/2009
1	Hypnotics and Sedatives (Sedatives)IBA 01/2009
1	RNA Splice SitesIBA 08/2007
1	EnzymesIBA 04/2007
1	Ion Channels (Ion Channel)IBA 04/2007
1	3' Untranslated Regions (3' UTR)IBA 07/2006
1	Cytochrome P-450 CYP1A1 (CYP1A1)IBA 07/2006
1	SteroidsIBA 11/2005
1	Neurotransmitter Agents (Neurotransmitter)IBA 07/2004
1	Biological FactorsIBA 07/2004
1	Brain-Derived Neurotrophic Factor (BDNF)IBA 02/2002

Therapy/Procedure

2	Mechanical Ventilators (Ventilator) 11/2018 - 11/2012
1	Therapeutics 11/2020
1	Tracheostomy 11/2018
1	Patient-Controlled Analgesia (Analgesia, Patient Controlled) 11/2018
1	Adenoidectomy 01/2009
1	Tonsillectomy 01/2009