Suzanne M Leal Selected Research

Familial Thoracic 1 Aortic Aneurysm

9/2011	Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.
6/2011	Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections.
12/2010	Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections.

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Suzanne M Leal Research Topics

Disease

8	Hearing Loss (Hearing Impairment) 10/2020 - 01/2003
7	Nonsyndromic Deafness 01/2019 - 01/2008
5	Thoracic Aortic Aneurysm 01/2015 - 12/2010
3	Aortic Diseases 01/2019 - 01/2015
3	Otitis Media 01/2019 - 11/2016
3	Aortic Dissection 01/2018 - 09/2011
3	Deafness (Deaf Mutism) 01/2014 - 01/2011
3	Breast Neoplasms (Breast Cancer) 12/2013 - 02/2006
3	Familial Thoracic 1 Aortic Aneurysm 09/2011 - 12/2010
2	Bicuspid Aortic Valve Disease 10/2021 - 10/2021
2	Neoplasms (Cancer) 10/2017 - 05/2007
2	Congenital Heart Defects (Congenital Heart Defect) 01/2016 - 04/2005
2	Autistic Disorder (Autism) 06/2015 - 05/2012
2	Autosomal Recessive 35 Deafness 01/2011 - 01/2008
2	Opioid-Related Disorders (Opiate Addiction) 09/2008 - 12/2004
2	Ketosis 08/2005 - 12/2004
2	Type 2 Diabetes Mellitus (MODY) 08/2005 - 12/2004
1	Gaucher Disease (Gaucher's Disease) 01/2022
1	Left Ventricular Dysfunction 11/2021
1	Cholesteatoma 01/2021
1	Multiple Abnormalities 01/2019
1	Microcephaly 09/2018
1	Intellectual Disability (Idiocy) 09/2018
1	Keloid 10/2017
1	Body Weight (Weight, Body) 01/2016
1	Insulin Resistance 01/2016
1	Arthritis (Polyarthritis) 06/2015
1	Joint Diseases (Joint Disease) 06/2015
1	Interstitial Lung Diseases (Interstitial Lung Disease) 06/2015
1	Cardiovascular Diseases (Cardiovascular Disease) 01/2015
1	Inflammation (Inflammations) 01/2015
1	Hypermethioninemia 01/2015
1	Postoperative Pain 12/2013
1	Pain (Aches) 12/2013
1	Gonadal dysgenesis XX type deafness 04/2013
1	Usher Syndromes (Usher Syndrome) 11/2012
1	Autosomal Recessive 48 Deafness 11/2012
1	Coronary Disease (Coronary Heart Disease) 12/2011
1	Dyslipidemias (Dyslipidemia) 12/2011
1	Marfan Syndrome (Marfan's Syndrome) 09/2011
1	Genetic Predisposition to Disease (Genetic Predisposition) 09/2011
1	Iliac Aneurysm 09/2011
1	Intracranial Aneurysm (Cerebral Aneurysm) 09/2011
1	Abdominal Aortic Aneurysm 09/2011

Drug/Important Bio-Agent (IBA)

9	DNA (Deoxyribonucleic Acid)IBA 10/2020 - 01/2008
4	Nonsense Codon (Nonsense Mutation)IBA 01/2019 - 04/2003
4	1,3,4,6- tetra- O- acetyl- 2- azido- 2- deoxyglucopyranose (TAAD)IBA 09/2011 - 12/2010
3	Mitochondrial DNA (mtDNA)IBA 01/2008 - 02/2006
2	TungstenIBA 10/2021 - 10/2021
2	RNA (Ribonucleic Acid)IBA 01/2021 - 01/2019
2	Initiator Codon (Start Codon)IBA 01/2019 - 02/2011
2	Carrier Proteins (Binding Protein)IBA 06/2015 - 11/2012
2	Catechol O-Methyltransferase (Methyltransferase, Catechol)IBA 12/2013 - 09/2008
2	Adenosine Triphosphate (ATP)IBA 04/2013 - 11/2012
2	Estrogens (Estrogen)FDA Link 01/2011 - 01/2008
2	Insulin (Novolin)FDA Link 08/2005 - 12/2004
1	Glucosylceramidase (Glucocerebrosidase)IBA 01/2022
1	SaposinsIBA 01/2022
1	Fibrillin-1IBA 11/2021
1	Phosphotransferases (Kinase)IBA 01/2019
1	Myosin-Light-Chain KinaseIBA 01/2019
1	AntigensIBA 11/2018
1	Proteins (Proteins, Gene)FDA Link 01/2018
1	Epidermal Growth Factor (EGF)IBA 01/2018
1	CeramidesIBA 10/2017
1	CeramidasesIBA 10/2017
1	Acid CeramidaseIBA 10/2017
1	SphingosineIBA 10/2017
1	Oxidoreductases (Dehydrogenase)IBA 03/2016
1	I-kappa B KinaseIBA 01/2016
1	Biological ProductsIBA 01/2016
1	NucleotidesIBA 06/2015
1	AutoantibodiesIBA 06/2015
1	C-Reactive ProteinIBA 01/2015
1	Amino Acids FDA Link 01/2015
1	Adenylyl Cyclases (Adenylyl Cyclase)IBA 06/2014
1	FM1 43IBA 06/2014
1	Coloring Agents (Dyes)IBA 06/2014
1	Oxycodone (Oxycontin)FDA LinkGeneric 12/2013
1	Untranslated Regions (Untranslated Region)IBA 12/2013
1	Lysine-tRNA LigaseIBA 07/2013
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 04/2013
1	Peptide Hydrolases (Proteases)FDA Link 04/2013
1	Histidine-tRNA LigaseIBA 04/2013
1	IntegrinsIBA 11/2012
1	CalciumIBA 11/2012
1	Carnitine (L-Carnitine)FDA LinkGeneric 05/2012
1	trimethyl-lysine hydroxylaseIBA 05/2012
1	fenofibric acid FDA Link 12/2011
1	oxidized low density lipoproteinIBA 12/2011
1	HDL CholesterolIBA 12/2011
1	LDL CholesterolIBA 12/2011
1	Triglycerides (Triacylglycerol)IBA 12/2011
1	Apolipoprotein A-I (Apolipoprotein A1)IBA 12/2011
1	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 12/2011
1	Fibric Acids (Fibrates)IBA 12/2011

Therapy/Procedure

2	Therapeutics 05/2012 - 12/2011
2	Sign Language 10/2003 - 01/2003
1	Cochlear Implantation 01/2018
1	Cochlear Implants (Cochlear Implant) 01/2018