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Kidney international, ISSN 0085-2538, 11/2018, Volume 94, Issue 5, pp. 861 - 869
Journal Article
Kidney international, ISSN 0085-2538, 04/2009, Volume 75, Issue 8, pp. 848 - 855
mutation | ADPKD | hypomorphic allele | childhood | PKD1 | Mutation | Childhood | Hypomorphic allele | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Nephrology. Urinary tract diseases | Biological and medical sciences | Kidneys | Medical sciences | Malformations of the urinary system | DNA Mutational Analysis | Pedigree | Humans | Alleles | Cysts - genetics | Family Health | Genotype | Penetrance | Gene Dosage | Kidney Failure, Chronic | Mutation, Missense | TRPP Cation Channels - genetics | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 04/2012, Volume 44, Issue 4, pp. 456 - 460
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Cardiology. Vascular system | Arterial hypertension. Arterial hypotension | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Blood and lymphatic vessels | Blood Pressure - genetics | Humans | Middle Aged | Pseudohypoaldosteronism - physiopathology | Molecular Sequence Data | Male | Young Adult | Kidney - metabolism | Base Sequence | Aged, 80 and over | Adult | Female | Pseudohypoaldosteronism - metabolism | Child | Amino Acid Sequence | Sodium Chloride Symporters - metabolism | Signal Transduction | Sodium Chloride Symporters - genetics | Pseudohypoaldosteronism - genetics | Sequence Analysis, DNA | Carrier Proteins - genetics | Adolescent | Aged | Polymorphism, Single Nucleotide | Nephrons - metabolism | Ion Transport - genetics | Hypertension | Ubiquitin | Physiological aspects | Genetic aspects | Research | Gene mutations | Proteins | Genetics | Mutation | Genes | Index Medicus | Life Sciences
Journal Article
Nature reviews. Nephrology, ISSN 1759-5061, 12/2010, Volume 6, Issue 12, pp. 736 - 743
Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Fabry Disease - genetics | Humans | Cystinosis - genetics | Cystinosis - surgery | Living Donors | Nephrotic Syndrome - genetics | Nephrotic Syndrome - surgery | Arteriosclerosis - genetics | Kidney Diseases - genetics | Abnormalities, Multiple - surgery | Patient Selection | Hemolytic-Uremic Syndrome - genetics | Hyperoxaluria - surgery | Osteochondrodysplasias - genetics | Polycystic Kidney, Autosomal Dominant - genetics | Hemolytic-Uremic Syndrome - surgery | Kidney Diseases, Cystic - genetics | Abnormalities, Multiple - genetics | Pulmonary Embolism - genetics | Osteochondrodysplasias - surgery | Risk Factors | Kidney Diseases, Cystic - surgery | Nephritis, Hereditary - genetics | Pupil Disorders - surgery | Kidney Transplantation | Eye Abnormalities - genetics | Eye Abnormalities - surgery | Pupil Disorders - genetics | Immunologic Deficiency Syndromes - surgery | Arteriosclerosis - surgery | Nephritis, Hereditary - surgery | Immunologic Deficiency Syndromes - genetics | Kidney Diseases - surgery | Fabry Disease - surgery | Pulmonary Embolism - surgery | Hyperoxaluria - genetics | Kidney Diseases, Cystic - congenital | Polycystic Kidney, Autosomal Dominant - surgery | Care and treatment | Relapse | Kidneys | Chronic kidney failure | Organ transplant recipients | Development and progression | Genetic aspects | Transplantation | Research | Health aspects | Risk factors | Diseases | Index Medicus
Journal Article
Kidney international, ISSN 0085-2538, 12/2008, Volume 74, Issue 11, pp. 1468 - 1479
mosaic | PKD1/TSC2-CGS | ADPKD | MLPA | PKD2 | deletions | Mosaic | Deletions | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Nephrology. Urinary tract diseases | Biological and medical sciences | Kidneys | Medical sciences | Malformations of the urinary system | DNA Mutational Analysis - standards | Humans | Family Health | Male | DNA Mutational Analysis - methods | TRPP Cation Channels - genetics | Polycystic Kidney, Autosomal Dominant - genetics | Pedigree | Polycystic Kidney, Autosomal Dominant - diagnosis | Gene Deletion | Gene Rearrangement | Tumor Suppressor Proteins - genetics | Female | Mutation | Index Medicus | TSC2-CGS | PKD1
Journal Article
Pediatric nephrology (Berlin, West), ISSN 0931-041X, 11/2006, Volume 21, Issue 11, pp. 1653 - 1660
Pediatrics | Denys-Drash syndrome | Nephrology | Frasier syndrome | WT1 gene | Wilms’ tumor | Medicine & Public Health | Diffuse mesangial sclerosis | Glomerular disease | FSGS | Urology | Wilms' tumor | Wilms Tumor - genetics | Kidney Diseases - pathology | Humans | Frasier Syndrome - pathology | Male | Nephrotic Syndrome - genetics | Denys-Drash Syndrome - genetics | Genetic Counseling | Kidney Diseases - genetics | Wilms Tumor - pathology | Chromosomes, Human, X | Frasier Syndrome - genetics | Sclerosis - genetics | Chromosomes, Human, Y | Glomerular Mesangium - pathology | Genes, Wilms Tumor | Sclerosis - pathology | Female | Mutation | Child | Denys-Drash Syndrome - pathology | Index Medicus
Journal Article
The New England journal of medicine, ISSN 0028-4793, 06/2011, Volume 364, Issue 26, pp. 2561 - 2563
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Antibodies, Monoclonal, Humanized | Hemolytic-Uremic Syndrome - microbiology | Humans | Shiga-Toxigenic Escherichia coli | Child, Preschool | Antibodies, Monoclonal - therapeutic use | Hemolytic-Uremic Syndrome - therapy | Escherichia coli Infections - complications | Hemolytic-Uremic Syndrome - drug therapy | Renal Dialysis | Shiga Toxin - adverse effects | Nervous system | Children | Mutation | Patients
Journal Article
Pediatric nephrology (Berlin, West), ISSN 0931-041X, 2009, Volume 24, Issue 12, pp. 2333 - 2344
Cystic kidney disease | Ciliopathy | Senior-Løken syndrome | Chronic renal failure | Nephronophthisis | Chronic tubulointerstitial nephritis | Pediatrics | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Kidney Failure, Chronic - genetics | Polycystic Kidney Diseases - genetics | Cilia - pathology | Nephritis, Interstitial - genetics | Humans | Retinitis Pigmentosa - genetics | Child | Genes, Recessive | Index Medicus | Educational Review
Journal Article