Judy Savige Selected Research

Hereditary Nephritis (Alport Syndrome)

1/2022	Genotype-Phenotype Correlations for Pathogenic COL4A3-COL4A5 Variants in X-Linked, Autosomal Recessive, and Autosomal Dominant Alport Syndrome.
1/2022	Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome.
12/2021	Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3-COL4A5) and Their Association With Other Kidney Conditions: A Review.
1/2021	Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
1/2020	Alport syndrome: deducing the mode of inheritance from the presence of haematuria in family members.
1/2020	Corneal endothelial cell abnormalities in X-linked Alport syndrome.
1/2019	Increased microvascular disease in X-linked and autosomal recessive Alport syndrome: a case control cross sectional observational study.
1/2019	Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
1/2018	Temporal retinal thinning and the diagnosis of Alport syndrome and Thin basement membrane nephropathy.
7/2017	The Chemical Chaperone, PBA, Reduces ER Stress and Autophagy and Increases Collagen IV α5 Expression in Cultured Fibroblasts From Men With X-Linked Alport Syndrome and Missense Mutations.

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Judy Savige Research Topics

Disease

22	Hereditary Nephritis (Alport Syndrome) 01/2022 - 10/2002
11	Renal Insufficiency (Renal Failure) 01/2022 - 01/2010
6	Cardiovascular Diseases (Cardiovascular Disease) 01/2021 - 07/2010
6	Vasculitis (Vasculitides) 01/2018 - 04/2005
4	Hematuria 10/2003 - 11/2002
3	Glomerulonephritis 01/2022 - 09/2003
3	Hearing Loss (Hearing Impairment) 01/2020 - 01/2010
3	Retinal Perforations 05/2017 - 06/2009
3	Atrophy 05/2017 - 08/2003
3	Proteinuria 09/2014 - 08/2003
3	Granulomatosis with Polyangiitis (Wegener's Granulomatosis) 06/2009 - 09/2003
3	Microscopic Polyangiitis 10/2006 - 09/2003
2	Retinal Drusen 04/2022 - 01/2022
2	Segmental glomerulosclerosis 12/2021 - 01/2019
2	IGA Glomerulonephritis (IGA Nephropathy) 12/2021 - 10/2003
2	Fibrosis (Cirrhosis) 09/2014 - 11/2002
2	Cardiac Arrhythmias (Arrythmia) 01/2013 - 05/2012
2	Myocardial Infarction 05/2012 - 09/2011
2	Inflammatory Bowel Diseases (Inflammatory Bowel Disease) 07/2008 - 09/2003
2	Focal Segmental Glomerulosclerosis (Glomerulosclerosis, Focal) 10/2003 - 06/2003
1	Systemic Lupus Erythematosus (Libman-Sacks Disease) 04/2022
1	Lipoid Nephrosis (Glomerulonephritis, Minimal Change) 01/2022
1	Nephritis 01/2022
1	Alkalosis 09/2021
1	Gitelman Syndrome 09/2021
1	Hyperaldosteronism (Conn Syndrome) 09/2021
1	Chronic Renal Insufficiency 03/2021
1	Heart Diseases (Heart Disease) 01/2021
1	Stroke (Strokes) 01/2021
1	Infections 01/2021
1	Hypertensive Retinopathy 01/2019
1	Left Ventricular Hypertrophy (Ventricular Hypertrophy, Left) 01/2019
1	Coronary Artery Disease (Coronary Atherosclerosis) 01/2018
1	Benign Familial Hematuria 01/2018
1	Diabetic Retinopathy (Retinopathy, Diabetic) 01/2018
1	Macular Degeneration (Age-Related Maculopathy) 05/2017
1	Hemorrhage 01/2017
1	Albuminuria 01/2016
1	Chronic Obstructive Pulmonary Disease (COPD) 01/2016
1	Autosomal Dominant Polycystic Kidney (ADPKD) 11/2015
1	Cysts 11/2015
1	Corneal Opacity 04/2015
1	Chronic Kidney Failure (Chronic Renal Failure) 01/2015
1	Hypertension (High Blood Pressure) 09/2014
1	Rheumatic Diseases (Rheumatism) 06/2013
1	Heart Failure 05/2012
1	Atrial Fibrillation 05/2012
1	Body Weight (Weight, Body) 01/2012
1	And Muscle Cramps Aneurysms With Nephropathy Hereditary Angiopathy 02/2011
1	Aneurysm (Aneurysms) 02/2011
1	Muscle Cramp (Cramp) 02/2011
1	Nephrosis 09/2008
1	MELAS Syndrome (Syndrome, MELAS) 07/2008
1	Wound Infection (Wound Infections) 10/2006
1	Autoimmune Diseases (Autoimmune Disease) 09/2003

Drug/Important Bio-Agent (IBA)

16	Retinaldehyde (Retinal)IBA 01/2022 - 08/2003
9	Antineutrophil Cytoplasmic Antibodies (ANCA)IBA 01/2022 - 09/2003
7	CollagenIBA 01/2022 - 10/2003
5	Proteins (Proteins, Gene)FDA Link 11/2015 - 11/2002
4	Mydriatics (Cycloplegics)IBA 01/2022 - 05/2017
3	Complement System Proteins (Complement)IBA 04/2022 - 01/2019
3	Glycine (Aminoacetic Acid)FDA LinkGeneric 01/2021 - 02/2003
3	IntegrinsIBA 01/2017 - 02/2011
3	Peroxidase (Myeloperoxidase)IBA 06/2009 - 01/2008
2	Immunoglobulin A (IgA)IBA 12/2021 - 10/2003
2	Collagen Type IV (Type IV Collagen)IBA 03/2021 - 10/2002
2	Angiotensin-Converting Enzyme Inhibitors (ACE Inhibitors)IBA 01/2016 - 09/2014
2	TroponinIBA 01/2013 - 09/2011
2	pro-brain natriuretic peptide (1-76)IBA 05/2012 - 07/2010
2	AntigensIBA 12/2008 - 01/2008
2	AutoantibodiesIBA 07/2008 - 08/2003
2	Terminator Codon (Termination Codon)IBA 02/2003 - 10/2002
2	CreatinineIBA 11/2002 - 11/2002
1	ThiazidesIBA 09/2021
1	Anti-Bacterial Agents (Antibiotics)IBA 01/2021
1	Glycoproteins (Glycoprotein)IBA 01/2017
1	von Willebrand FactorIBA 01/2017
1	Capsules (Microcapsules)IBA 04/2015
1	Peptidyl-Dipeptidase A (Angiotensin Converting Enzyme)IBA 09/2014
1	DNA (Deoxyribonucleic Acid)IBA 06/2014
1	AngiotensinsIBA 03/2014
1	ReninIBA 03/2014
1	Codon (Codons)IBA 12/2013
1	C-Reactive ProteinIBA 06/2013
1	LigandsIBA 02/2011
1	Troponin IIBA 07/2010
1	ImmunosorbentsIBA 06/2009
1	EnzymesIBA 06/2009
1	Formaldehyde (Formol)FDA Link 12/2008
1	Ethanol (Ethyl Alcohol)IBA 12/2008
1	NPHS2 proteinIBA 09/2008
1	SteroidsIBA 09/2008
1	Myeloblastin (Proteinase 3)IBA 01/2008
1	Immunoglobulins (Immunoglobulin)IBA 05/2005

Therapy/Procedure

4	Therapeutics 01/2022 - 03/2009
3	Orthopedic Procedures 05/2012 - 07/2010
2	Kidney Transplantation 01/2019 - 01/2015
1	Slit Lamp 01/2020
1	Contraception (Birth Control) 01/2016
1	Transplantation 01/2015