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JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, ISSN 0735-1097, 08/2008, Volume 52, Issue 8, pp. 686 - 717
C-REACTIVE PROTEIN | blood pressure | CARDIAC & CARDIOVASCULAR SYSTEMS | COR-PULMONALE SECONDARY | ACCF Expert Consensus Document | death, sudden | RANDOMIZED CONTROLLED-TRIAL | LEFT-VENTRICULAR HYPERTROPHY | sleep | apnea | arrhythmia | CHEYNE-STOKES RESPIRATION | SYMPATHETIC-NERVE ACTIVITY | POSITIVE AIRWAY PRESSURE | PLACEBO-CONTROLLED TRIAL | cerebrovascular disorders | STAGE RENAL-DISEASE | CORONARY-ARTERY-DISEASE | Continuous Positive Airway Pressure | Sleep Apnea, Obstructive - therapy | Sleep Apnea, Central - epidemiology | Sleep Apnea, Obstructive - physiopathology | Humans | Oxidative Stress - physiology | Hypertension, Pulmonary - physiopathology | Sympathetic Nervous System - physiopathology | Death, Sudden, Cardiac | Hypertrophy, Left Ventricular - epidemiology | Sleep Apnea, Central - diagnosis | Insulin Resistance - physiology | Cardiovascular Diseases - epidemiology | Heart Rate - physiology | Myocardial Ischemia - physiopathology | Adult | Stroke - epidemiology | Sleep Apnea, Obstructive - epidemiology | Child | Heart Failure - epidemiology | Myocardial Ischemia - epidemiology | Arrhythmias, Cardiac - epidemiology | Kidney Failure, Chronic - physiopathology | Ventricular Dysfunction, Left - epidemiology | Cardiovascular Diseases - physiopathology | Comorbidity | Endothelium, Vascular - physiopathology | Hypertension, Pulmonary - epidemiology | Sleep Apnea, Central - physiopathology | Polysomnography | Disease Progression | Hypertension - physiopathology | Kidney Failure, Chronic - epidemiology | Obesity - epidemiology | Hypoxia - physiopathology | Sleep Apnea, Obstructive - diagnosis | Index Medicus | Abridged Index Medicus
Journal Article
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 09/2008, Volume 3, Issue 5, pp. 1430 - 1436
Background and objectives: Lowe syndrome is defined by congenital cataracts, mental retardation, and proximal tubulopathy and is due to mutations in OCRL.... 
OCULOCEREBRORENAL SYNDROME | HYPERCALCIURIA | GENE | HYPOPHOSPHATEMIC RICKETS | TRAFFICKING | UROLOGY & NEPHROLOGY | GLYCOSURIA | MUTATIONS | OCRL1 | FANCONI-SYNDROME | DENT-DISEASE | Oculocerebrorenal Syndrome - genetics | Lysosomal Storage Diseases - physiopathology | Amino Acid Metabolism, Inborn Errors - physiopathology | Humans | Acidosis, Renal Tubular - genetics | Child, Preschool | Oculocerebrorenal Syndrome - complications | Male | Renal Tubular Transport, Inborn Errors - genetics | Nephrocalcinosis - physiopathology | Albuminuria - physiopathology | Amino Acid Metabolism, Inborn Errors - genetics | Fanconi Syndrome - physiopathology | Adult | Female | Hypercalciuria - genetics | Fanconi Syndrome - genetics | Renal Tubular Transport, Inborn Errors - physiopathology | Child | Oculocerebrorenal Syndrome - physiopathology | Glycosuria - physiopathology | Kidney Tubules, Proximal - physiopathology | Phosphoric Monoester Hydrolases - genetics | Glomerular Filtration Rate | Glycosuria - genetics | Europe | Hypercalciuria - physiopathology | Lysosomal Storage Diseases - genetics | Proteinuria - genetics | Proteinuria - physiopathology | Albuminuria - genetics | Phenotype | Nephrocalcinosis - genetics | Hypophosphatemia, Familial - genetics | Adolescent | Hypophosphatemia, Familial - physiopathology | Acidosis, Renal Tubular - physiopathology | Mutation | Index Medicus | Hereditary Disease
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 455 - 459
KAT6B sequence variants have been identified in both patients with the Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and in the genitopatellar syndrome... 
skeletal anomalies | related disorders | KAT6B | focused exome sequencing | KAT6B-related disorders | RETARDATION | GENETICS & HEREDITY | HISTONE ACETYLTRANSFERASE | MUTATIONS | PHENOTYPIC SPECTRUM | Patella - physiopathology | Scrotum - abnormalities | Scrotum - physiopathology | Exons | Humans | Joint Instability - genetics | Histone Acetyltransferases - genetics | Craniofacial Abnormalities - physiopathology | Intellectual Disability - genetics | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Female | Psychomotor Disorders - physiopathology | Urogenital Abnormalities - physiopathology | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Kidney - physiopathology | Haploinsufficiency - genetics | Genetic Association Studies | Congenital Hypothyroidism - physiopathology | Abnormalities, Multiple - physiopathology | Intellectual Disability - physiopathology | Phenotype | Kidney - abnormalities | Alleles | Heart Defects, Congenital - physiopathology | Mutation | Joint Instability - physiopathology | Blepharophimosis - physiopathology | Urogenital Abnormalities - genetics | Medical genetics | Intellectual disabilities | Genotypes | Haploinsufficiency | Index Medicus
Journal Article
Journal of Nephrology, ISSN 1121-8428, 06/2017, Volume 30, Issue 3, pp. 455 - 460
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2017, Volume 173, Issue 8, pp. 2139 - 2157
Esophageal atresia (EA) is a common type of congenital anomaly. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Infants... 
tracheooesophageal fistula | congenital anomalies | congenital malformations | esophageal atresia | VACTERL association | AND/OR TRACHEOESOPHAGEAL FISTULA | DESCRIPTIVE EPIDEMIOLOGY | PREVALENCE | CONGENITAL-ANOMALIES | ENVIRONMENTAL-FACTORS | MALFORMATIONS | BIRTH-DEFECTS PREVENTION | GENETICS & HEREDITY | EXPERIENCE | PRENATAL-DIAGNOSIS | Chromosome Disorders - epidemiology | Limb Deformities, Congenital - genetics | Congenital Abnormalities - epidemiology | Esophageal Atresia - epidemiology | Humans | Congenital Abnormalities - physiopathology | Stillbirth | Limb Deformities, Congenital - physiopathology | Male | Spine - abnormalities | Esophagus - physiopathology | Heart Defects, Congenital - genetics | Congenital Abnormalities - genetics | Anal Canal - physiopathology | Abnormalities, Multiple - epidemiology | Female | Esophageal Atresia - genetics | Trachea - physiopathology | Esophageal Atresia - complications | Chromosome Disorders - physiopathology | Abnormalities, Multiple - genetics | Kidney - physiopathology | Trachea - abnormalities | Esophageal Atresia - physiopathology | Chromosome Disorders - complications | Spine - physiopathology | Fetus - physiopathology | Esophagus - abnormalities | Abnormalities, Multiple - physiopathology | Anal Canal - abnormalities | Pregnancy | Heart Defects, Congenital - complications | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Chromosome Aberrations | Heart Defects, Congenital - epidemiology | Limb Deformities, Congenital - complications | Heart Defects, Congenital - physiopathology | Chromosome Disorders - genetics | Development and progression | Birth defects | Genetic disorders | Etiology | Congenital defects | Hernias | Fetuses | CHARGE syndrome | Infants | Sudden infant death syndrome--SIDS | Esophagus | Index Medicus
Journal Article
Journal of Molecular Neuroscience, ISSN 0895-8696, 11/2012, Volume 48, Issue 3, pp. 482 - 492
Pituitary adenylate cyclase-activating polypeptide (PACAP) is a widespread neuropeptide with a diverse array of biological functions. Not surprisingly, the... 
Neurochemistry | Neurology | Neurosciences | Biomedicine | Ischemia | Proteomics | Protection | Knockout | Cell Biology | Cytoprotective | CYCLASE-ACTIVATING POLYPEPTIDE | OXIDATIVE STRESS | BIOCHEMISTRY & MOLECULAR BIOLOGY | NEURONAL CELL-DEATH | NEUROSCIENCES | NEURODEGENERATIVE DISEASES | IN-VITRO | INCREASED SENSITIVITY | ADENYLATE-CYCLASE | NEUROPEPTIDE PACAP | CEREBRAL-ISCHEMIA | EXPRESSION | Kidney Diseases - physiopathology | Stress, Physiological - physiology | Autoimmune Diseases - physiopathology | Disease Susceptibility | Pituitary Adenylate Cyclase-Activating Polypeptide - genetics | Neurotoxins - toxicity | Ischemia - physiopathology | Noxae - adverse effects | Pituitary Adenylate Cyclase-Activating Polypeptide - physiology | Wounds and Injuries - physiopathology | Mice, Knockout | Cardiomyopathies - physiopathology | Animals | Homeostasis - physiology | Lung Diseases - physiopathology | Mice | Nervous System Diseases - physiopathology | Dermatitis, Allergic Contact - physiopathology | Pancreatic Diseases - physiopathology | Inflammation - physiopathology | Pituitary Adenylate Cyclase-Activating Polypeptide - deficiency | Index Medicus | Cell culture | Oxidative stress | Cytokines | Encephalomyelitis | Cardiomyopathy | Data processing | Nervous system | Inflammation | Small intestine | Kidney | Pituitary adenylate cyclase-activating polypeptide | Reperfusion | Reviews | Contact dermatitis | Excitotoxicity | Respiratory tract diseases | Pancreas | Injuries
Journal Article
Rheumatology (United Kingdom), ISSN 1462-0324, 2017, Volume 56, Issue 11, pp. 1962 - 1969
Objectives. There are few data on clinical profiles of ANCA-associated vasculitis (AAV) in different ethnic populations. The aim of this study was to examine... 
MPO-ANCA | PR3-ANCA | ANCA-vasculitis | Epidemiology | POLYANGIITIS | epidemiology | SYSTEMIC VASCULITIS | ALLELES | ANCA-ASSOCIATED VASCULITIS | CLASSIFICATION | GRANULOMATOSIS | RHEUMATOLOGY | Kidney Diseases - physiopathology | Japan - epidemiology | United States - epidemiology | Male Urogenital Diseases - physiopathology | Humans | Middle Aged | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis - physiopathology | Female Urogenital Diseases - etiology | Arabs | Male | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis - ethnology | Antibodies, Antineutrophil Cytoplasmic - immunology | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis - complications | Skin Diseases - physiopathology | Female | Otorhinolaryngologic Diseases - physiopathology | Nervous System Diseases - physiopathology | Odds Ratio | Otorhinolaryngologic Diseases - etiology | Female Urogenital Diseases - physiopathology | Peroxidase - immunology | Heart Diseases - physiopathology | Myeloblastin - immunology | Eye Diseases - etiology | Europe - epidemiology | India - epidemiology | European Continental Ancestry Group | China - epidemiology | Skin Diseases - etiology | Male Urogenital Diseases - etiology | Middle East - epidemiology | Asian Continental Ancestry Group | Heart Diseases - etiology | Respiratory Tract Diseases - etiology | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis - immunology | Turkey - epidemiology | Nervous System Diseases - etiology | Respiratory Tract Diseases - physiopathology | Aged | Kidney Diseases - etiology | Eye Diseases - physiopathology | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
Ethiopian medical journal, ISSN 0014-1755, 07/2016, Volume 54, Issue 3, p. 117
Renal diseases are major causes of morbidity and mortality in pediatric practice. Pediatric patients with renal disease, especially younger ones may present... 
Urinary Tract Infections - mortality | Urogenital Abnormalities - mortality | Humans | Urinary Tract Infections - physiopathology | Child, Preschool | Prune Belly Syndrome - mortality | Purpura, Schoenlein-Henoch - epidemiology | Male | Ethiopia - epidemiology | Renal Insufficiency, Chronic - epidemiology | Kidney Neoplasms - physiopathology | Kidney Diseases - epidemiology | Glomerulonephritis - physiopathology | Child | Infant, Newborn | Wilms Tumor - physiopathology | Nephrotic Syndrome - mortality | Urolithiasis - mortality | Mortality | Glomerulonephritis - mortality | Kidney Diseases - mortality | Acute Kidney Injury - physiopathology | Renal Insufficiency, Chronic - physiopathology | Prune Belly Syndrome - epidemiology | Acute Kidney Injury - mortality | Prune Belly Syndrome - physiopathology | Wilms Tumor - epidemiology | Lupus Nephritis - physiopathology | Adolescent | Nephrotic Syndrome - epidemiology | Lupus Nephritis - mortality | Kidney Diseases - physiopathology | Urolithiasis - physiopathology | Kidney Neoplasms - epidemiology | Urogenital Abnormalities - epidemiology | Infant | Recovery of Function | Bladder Exstrophy - mortality | Purpura, Schoenlein-Henoch - mortality | Hospitals, Teaching | Renal Insufficiency, Chronic - mortality | Female | Purpura, Schoenlein-Henoch - physiopathology | Retrospective Studies | Lupus Nephritis - epidemiology | Urogenital Abnormalities - physiopathology | Glomerulonephritis - epidemiology | Cross-Sectional Studies | Wilms Tumor - mortality | Hospitalization | Bladder Exstrophy - epidemiology | Kidney Neoplasms - mortality | Urinary Tract Infections - epidemiology | Urolithiasis - epidemiology | Nephrotic Syndrome - physiopathology | Bladder Exstrophy - physiopathology | Acute Kidney Injury - epidemiology
Journal Article
Diabetes Care, ISSN 0149-5992, 08/2016, Volume 39, Issue Supplement 2, pp. S165 - S171
Diabetic nephropathy (DN) is the most common cause of end-stage renal disease worldwide. Blood glucose and blood pressure control reduce the risk of developing... 
GLUCOSE COTRANSPORTER 2 | DAPAGLIFLOZIN | CANAGLIFLOZIN | ENDOCRINOLOGY & METABOLISM | DOUBLE-BLIND | RENAL-DISEASE | GLOMERULAR HYPERFILTRATION | TYPE-2 | NEPHROPATHY | BLOOD-PRESSURE | EMPAGLIFLOZIN | Albuminuria - complications | Cardiovascular Diseases - prevention & control | Humans | Kidney Glomerulus - physiopathology | Diabetes Mellitus, Type 1 - complications | Glomerular Filtration Rate - physiology | Albuminuria - physiopathology | Glomerular Filtration Rate - drug effects | Diabetic Nephropathies - physiopathology | Glucosides - therapeutic use | Blood Pressure - drug effects | Blood Pressure - physiology | Benzhydryl Compounds - therapeutic use | Diabetic Nephropathies - prevention & control | Diabetes Mellitus, Type 2 - complications | Kidney - physiopathology | Hypoglycemic Agents - therapeutic use | Kidney Failure, Chronic - physiopathology | Kidney - drug effects | Cardiovascular Diseases - metabolism | Diabetes Mellitus, Type 1 - physiopathology | Kidney Failure, Chronic - drug therapy | Kidney Glomerulus - drug effects | Risk Factors | Sodium-Glucose Transporter 2 Inhibitors | Diabetes Mellitus, Type 1 - drug therapy | Diabetes Mellitus, Type 2 - physiopathology | Albuminuria - drug therapy | Diabetes Mellitus, Type 1 - blood | Kidney Failure, Chronic - complications | Renin-Angiotensin System - drug effects | Blood Glucose - metabolism | Diabetes Mellitus, Type 2 - drug therapy | Index Medicus
Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 11/2014, Volume 66, Issue 11, pp. 3178 - 3189
Journal Article