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Nature Genetics, ISSN 1061-4036, 07/2017, Volume 49, Issue 7, pp. 1025 - 1034
Journal Article
Gastroenterology, ISSN 0016-5085, 2013, Volume 144, Issue 1, pp. 112 - 121.e2
Background & Aims Autosomal recessive polycystic kidney disease (ARPKD), the most common ciliopathy of childhood, is characterized by congenital hepatic... 
Gastroenterology and Hepatology | Noncirrhotic Portal Hypertension | Genetics | Hepatorenal Fibrocystic Disease | Ductal Plate Malformation | ENCODES | LIVER VOLUME | LENGTH | INTRAHEPATIC BILE-DUCTS | CHILDREN | PKHD1 | SPLEEN | NORMAL VALUES | INFANTS | OUTCOMES | GASTROENTEROLOGY & HEPATOLOGY | Liver Transplantation | Hypertension, Portal - physiopathology | Ultrasonography, Doppler, Color | Hypertension, Portal - complications | gamma-Glutamyltransferase - blood | Humans | Middle Aged | Prothrombin Time | Child, Preschool | Infant | Male | Esophageal and Gastric Varices - etiology | Liver Cirrhosis - congenital | Splenomegaly - diagnostic imaging | Polycystic Kidney, Autosomal Recessive - genetics | Young Adult | Liver Cirrhosis - diagnostic imaging | Polycystic Kidney, Autosomal Recessive - complications | Adult | Female | Child | Liver Cirrhosis - genetics | Alkaline Phosphatase - blood | Severity of Illness Index | Endoscopy, Gastrointestinal | Organ Size | Kidney Transplantation | Serum Albumin | Platelet Count | Portal Pressure | Adolescent | Liver Cirrhosis - pathology | Cholangiopancreatography, Magnetic Resonance | Hypertension, Portal - blood | Mutation | Receptors, Cell Surface - genetics | Hypertension | Medical examination | Liver diseases | Genetic disorders | Aspartate | Thrombin | Diagnostic imaging | Fatty acids | Blood | Fibrosis | Medical genetics | Prothrombin | Polycystic kidney disease | Protein binding | Index Medicus | Abridged Index Medicus
Journal Article
Kidney International, ISSN 0085-2538, 05/2013, Volume 83, Issue 5, pp. 855 - 864
Journal Article
Kidney International, ISSN 0085-2538, 11/2017, Volume 92, Issue 5, pp. 1130 - 1144
Journal Article
Nature Reviews Nephrology, ISSN 1759-5061, 09/2017, Volume 13, Issue 9, pp. 519 - 520
Journal Article
Journal Article
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
Journal Article
Kidney International, ISSN 0085-2538, 03/2005, Volume 67, Issue 3, pp. 829 - 848
Journal Article