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Journal of Cell Biology, ISSN 0021-9525, 03/2011, Volume 192, Issue 6, pp. 1023 - 1041
Meckel-Gruber syndrome (MKS), nephronophthisis (NPHP), and related ciliopathies present with overlapping phenotypes and display considerable allelism between... 
DISEASE GENES | PHOTORECEPTOR CONNECTING CILIUM | BARDET-BIEDL-SYNDROME | RIGHT AXIS DETERMINATION | C-ELEGANS | NEMATODE CAENORHABDITIS-ELEGANS | MUTATIONS | JOUBERT SYNDROME | PLASMA-MEMBRANE | INTRAFLAGELLAR TRANSPORT PROTEIN | CELL BIOLOGY | Cilia - physiology | Polycystic Kidney Diseases - genetics | Ciliary Motility Disorders - physiopathology | Humans | Caenorhabditis elegans Proteins - metabolism | Recombinant Fusion Proteins - metabolism | Caenorhabditis elegans - physiology | Polycystic Kidney Diseases - pathology | Polycystic Kidney Diseases - physiopathology | Protein Isoforms - metabolism | Cilia - ultrastructure | Kidney Diseases, Cystic - genetics | Membrane Proteins - metabolism | Encephalocele - genetics | Kidney Diseases, Cystic - physiopathology | Membrane Proteins - genetics | Rats | Encephalocele - physiopathology | Kidney Diseases, Cystic - pathology | Animals | Ciliary Motility Disorders - pathology | Encephalocele - pathology | Recombinant Fusion Proteins - genetics | Caenorhabditis elegans Proteins - genetics | Kidney Diseases, Cystic - congenital | Ciliary Motility Disorders - genetics | Protein Isoforms - genetics | Causes of | Cell physiology | Research | Meckel-Gruber syndrome | Health aspects | Cell cycle | Proteins | Nematodes | Genotype & phenotype | Membranes | Genetic disorders | Cellular biology | Index Medicus | s
Journal Article
Developmental Cell, ISSN 1534-5807, 11/2012, Volume 23, Issue 5, pp. 925 - 938
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 09/2013, Volume 24, Issue 9, pp. 1435 - 1450
Journal Article
Genetics in Medicine, ISSN 1098-3600, 08/2017, Volume 19, Issue 8, pp. 875 - 882
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2011, Volume 121, Issue 7, pp. 2662 - 2667
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2003, Volume 34, Issue 4, pp. 413 - 420
Journal Article
Journal of Pediatric Gastroenterology and Nutrition, ISSN 0277-2116, 03/2018, Volume 66, Issue 3, pp. 428 - 435
Journal Article
American Journal of Kidney Diseases, ISSN 0272-6386, 2014, Volume 64, Issue 1, pp. 40 - 48
Journal Article
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 10/2011, Volume 6, Issue 10, pp. 2429 - 2438
Background UMOD mutations cause familial juvenile hyperuricemic nephropathy (FJHN) and medullary cystic kidney disease (MCKD), although these phenotypes are... 
CYSTIC KIDNEY-DISEASE | UROMODULIN GENE | CHROMOSOME 1Q21 | RENAL-FAILURE | UROLOGY & NEPHROLOGY | LOCUS | JUVENILE HYPERURICEMIC NEPHROPATHY | TAMM-HORSFALL GLYCOPROTEIN | URIC-ACID | FAMILY | CHILDREN | Central Nervous System Diseases - genetics | Kidney Diseases, Cystic - diagnosis | Exons | Nephritis, Interstitial - diagnosis | Diabetes Mellitus, Type 2 - genetics | Humans | Male | Central Nervous System Diseases - blood | Young Adult | DNA Mutational Analysis | Kidney Diseases, Cystic - genetics | Adult | Female | Kidney Diseases, Cystic - blood | Retrospective Studies | Uric Acid - blood | Uromodulin - genetics | Central Nervous System Diseases - physiopathology | Hepatocyte Nuclear Factor 1-beta - genetics | Kidney Diseases, Cystic - physiopathology | Nephritis, Interstitial - blood | Dental Enamel - physiopathology | Genetic Predisposition to Disease | Glomerular Filtration Rate | Risk Assessment | Hyperuricemia - diagnosis | Risk Factors | Nephritis, Interstitial - physiopathology | Hyperuricemia - physiopathology | Heredity | Biomarkers - blood | Chi-Square Distribution | Kidney Failure, Chronic - genetics | Diabetes Mellitus, Type 2 - diagnosis | Hyperuricemia - genetics | Diabetes Mellitus, Type 2 - blood | Hyperuricemia - blood | Phenotype | Diabetes Mellitus, Type 2 - physiopathology | Belgium | Nephritis, Interstitial - genetics | Pedigree | Dental Enamel - abnormalities | Central Nervous System Diseases - diagnosis | Gout - genetics | Mutation | Paris | Polycystic Kidney, Autosomal Dominant | Index Medicus | Original
Journal Article