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Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 12/2017, Volume 12, Issue 12, pp. 1962 - 1973
Background and objectives Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes. The characteristics of kidney disease and... 
Cerebellum | Hypertension | Polycystic kidney, autosomal recessive | Nephronophthisis | Joubert syndrome 1 | Ciliopathies | Retina | Cystic kidney | Prospective studies | Kidney diseases, cystic | Abnormalities, multiple | Genetic renal disease | Kidney | Sequence analysis, DNA | Pregnancy | Ciliopathy | Multicystic dysplastic kidney | Eye abnormalities | Phenotype | Kidney failure, chronic | Genetic association studies | Ultrasonography, prenatal | Mutation | Polycystic kidney disease | URINARY-TRACT MALFORMATIONS | MULTICYSTIC DYSPLASTIC KIDNEY | UROLOGY & NEPHROLOGY | FOLLOW-UP | DISORDERS | MUTATIONS | ATAXIA | SENIOR-LOKEN | MOLAR TOOTH SIGN | CHILDREN | Abnormalities, Multiple - metabolism | Retina - metabolism | Eye Abnormalities - diagnostic imaging | Prospective Studies | Multicystic Dysplastic Kidney - complications | Humans | Child, Preschool | Kidney Diseases, Cystic - diagnostic imaging | Infant | Male | Cerebellum - abnormalities | Polycystic Kidney, Autosomal Recessive - genetics | Young Adult | Cerebellum - diagnostic imaging | Polycystic Kidney, Autosomal Recessive - complications | Cell Cycle Proteins - genetics | Kidney Diseases, Cystic - genetics | Adult | Female | Neoplasm Proteins - genetics | Child | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Antigens, Neoplasm - genetics | Multicystic Dysplastic Kidney - genetics | Membrane Proteins - genetics | Cerebellum - metabolism | Abnormalities, Multiple - diagnostic imaging | Genotype | Eye Abnormalities - genetics | Polycystic Kidney, Autosomal Recessive - diagnostic imaging | Kidney Failure, Chronic - genetics | Proteins - genetics | Magnetic Resonance Imaging | Retina - diagnostic imaging | Kidney Diseases, Cystic - metabolism | Multicystic Dysplastic Kidney - diagnostic imaging | Ultrasonography, Prenatal | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Age of Onset | Retina - abnormalities | Kidney Diseases, Cystic - complications | Kidney Diseases, Cystic - congenital | Eye Abnormalities - complications | Kidney Failure, Chronic - etiology | Index Medicus | nephronophthisis | cystic kidney | kidney | Eye Abnormalities | polycystic kidney disease | Kidney Diseases, Cystic | Multicystic Dysplastic Kidney | Polycystic Kidney, Autosomal Recessive | Genetic Association Studies | Abnormalities, Multiple | Sequence Analysis, DNA | genetic renal disease | ciliopathy | Kidney Failure, Chronic | Original | hypertension
Journal Article
1971, Atlas of tumor radiology, 382
Book
1990, Developments in nephrology, ISBN 079230392X, Volume 27., xii, 444
Book
Journal of the American Society of Nephrology, ISSN 1046-6673, 12/2006, Volume 17, Issue 12, pp. 3424 - 3437
Journal Article
Kidney International, ISSN 0085-2538, 10/2015, Volume 88, Issue 4, pp. 676 - 683
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 01/2015, Volume 26, Issue 1, pp. 160 - 172
Journal Article
Journal Article
Journal Article
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 9/2017, Volume 32, Issue 9, pp. 1531 - 1536
Mulibrey nanism (MUL) is a rare inherited disease caused by genetic defects affecting peroxisomal TRIM37 protein. MUL affects multiple organs, leading to... 
Pediatrics | Nephrology | Glomerular cysts | Renal function | Medicine & Public Health | Mulibrey nanism | TRIM37 | Urology | Kidney | FIBROSIS | CRITERIA | CELLS | PROTEIN | FAILURE | DISEASE | GROWTH | DISORDER | UROLOGY & NEPHROLOGY | PEDIATRICS | Mulibrey Nanism - complications | Kidney Neoplasms - genetics | Kidney Neoplasms - epidemiology | Kidney - pathology | Humans | Middle Aged | Child, Preschool | Kidney Diseases, Cystic - diagnostic imaging | Infant | Male | Young Adult | Kidney - diagnostic imaging | Kidney Diseases, Cystic - genetics | Adult | Female | Retrospective Studies | Nuclear Proteins - genetics | Child | Kidney - physiopathology | Kidney Diseases, Cystic - epidemiology | Glomerular Filtration Rate | Magnetic Resonance Imaging | Kidney Neoplasms - diagnostic imaging | Kidney - abnormalities | Adolescent | Mulibrey Nanism - genetics | Kidney Neoplasms - pathology | Mutation | Finland - epidemiology | Dwarfism | Complications and side effects | Kidney diseases | Research | Risk factors | Vimentin | Immunohistochemistry | Transformation | Nuclear magnetic resonance--NMR | Platelet-derived growth factor | Growth rate | Mesenchyme | Urinary tract | Angiogenesis | Autopsy | Urogenital system | Vascular endothelial growth factor | Growth factors | Ultrasound | Urine | Fibroblast growth factor 1 | Kidneys | Diabetes mellitus | Blood vessels | Histology | Magnetic resonance imaging | Cysts | Biopsy | Fibrosis | Tumors | Kidney transplantation | Structure-function relationships | Index Medicus
Journal Article
Archives of Pathology and Laboratory Medicine, ISSN 0003-9985, 12/2012, Volume 136, Issue 12, pp. 1541 - 1551
Context.-The diagnosis of renal cell carcinoma (RCC) remains problematic, especially in the context of metastasis or small-needle biopsies. PAX2 and PAX8... 
MEDICINE, RESEARCH & EXPERIMENTAL | CELL CARCINOMA MARKER | DIFFERENTIAL-DIAGNOSIS | PATHOLOGY | THYROID-GLAND | CD10 EXPRESSION | PAIRED BOX GENE | KIDNEY-SPECIFIC CADHERIN | FINE-NEEDLE-ASPIRATION | CLEAR-CELL | IMMUNOHISTOCHEMICAL ANALYSIS | URINARY-TRACT | MEDICAL LABORATORY TECHNOLOGY | Immunohistochemistry | Kidney Diseases, Cystic - diagnosis | PAX2 Transcription Factor - metabolism | Adenoma, Oxyphilic - pathology | Kidney - pathology | Humans | Gene Expression Regulation, Neoplastic | Kidney Neoplasms - metabolism | Kidney Diseases, Cystic - etiology | Neoplasm Proteins - metabolism | Carcinoma, Papillary - metabolism | Carcinoma, Papillary - secondary | Kidney Neoplasms - diagnosis | Kidney - metabolism | Sensitivity and Specificity | Adenoma, Oxyphilic - metabolism | Biomarkers, Tumor - metabolism | Retrospective Studies | Diagnosis, Differential | Carcinoma, Renal Cell - pathology | Adenoma, Oxyphilic - diagnosis | Kidney Tubules, Collecting - pathology | Carcinoma, Papillary - pathology | Kidney Diseases, Cystic - pathology | Adenoma, Oxyphilic - secondary | Carcinoma, Renal Cell - metabolism | Kidney Tubules, Collecting - metabolism | Kidney Diseases, Cystic - metabolism | Biopsy | Carcinoma, Renal Cell - diagnosis | Carcinoma, Renal Cell - secondary | Kidney Neoplasms - pathology | Kidney Neoplasms - secondary | PAX8 Transcription Factor | Paired Box Transcription Factors - metabolism | Carcinoma, Papillary - diagnosis | Analysis | Metastasis | Diagnosis | Index Medicus | Abridged Index Medicus
Journal Article
Kidney International, ISSN 0085-2538, 08/2015, Volume 88, Issue 2, pp. 299 - 310
Journal Article
1976, A Wiley biomedical publication, ISBN 9780471291466, Volume 4, ix, 255
Book