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Nature Genetics, ISSN 1061-4036, 07/2007, Volume 39, Issue 7, pp. 875 - 881
Journal Article
European Journal of Pediatrics, ISSN 0340-6199, 9/2012, Volume 171, Issue 9, pp. 1285 - 1300
... isolated or as part of syndromes. Characterization of ciliopathies and the decisive role of primary cilia in signal transduction and cell division provides novel insights into tumorigenesis... 
Pediatrics | ARPKD | Jeune syndrome (ATD) | Joubert syndrome (JBTS) | Oligogenic inheritance | Mutational load | Congenital hepatic fibrosis/ductal plate malformation | Cystic kidneys | von Hippel-Lindau (VHL) | Cilia/ciliopathies | Sensenbrenner syndrome | Nephronophthisis (NPHP) | Short-rib polydactyly syndromes | Meckel syndrome (MKS) | ADPKD | Medicine & Public Health | Ellis-van Crefeld syndrome (EVC) | Bardet–Biedl syndrome (BBS) | Alstrom syndrome | Primary ciliary dyskinesia (Kartagener syndrome) | Tuberous sclerosis (TSC) | Ivemark syndrome | Modifier | Polycystic kidney disease | Von Hippel-Lindau (VHL) | Bardet-Biedl syndrome (BBS) | Ellis-Van Crefeld syndrome (EVC) | CLINICAL-TRIAL | HEPATIC CYSTS | GROWTH | BARDET-BIEDL-SYNDROME | PEDIATRICS | MUTATIONS | POLYCYSTIC KIDNEY-DISEASE | MECHANISMS | PRIMARY CILIUM | GENE | LONG-ACTING SOMATOSTATIN | Short Rib-Polydactyly Syndrome - diagnosis | Kidney Diseases, Cystic - diagnosis | Kidney Diseases, Cystic - physiopathology | Ciliary Motility Disorders - physiopathology | Genetic Testing | Humans | Bardet-Biedl Syndrome - therapy | Short Rib-Polydactyly Syndrome - genetics | Bardet-Biedl Syndrome - physiopathology | Short Rib-Polydactyly Syndrome - therapy | Short Rib-Polydactyly Syndrome - physiopathology | Bardet-Biedl Syndrome - diagnosis | Kidney Diseases, Cystic - genetics | Bardet-Biedl Syndrome - genetics | Ciliary Motility Disorders - diagnosis | Kidney Diseases, Cystic - therapy | Ciliary Motility Disorders - therapy | Ciliary Motility Disorders - genetics | Genes | Medical genetics | Tuberous sclerosis | Diabetes | Kidney diseases | Mental illness | Cells | ductal plate malformation | Review | Congenital hepatic fibrosis | Cilia | ciliopathies
Journal Article
The Journal of pathology, ISSN 1096-9896, 2019, Volume 248, Issue 4, pp. 396 - 408
Journal Article
Nature cell biology, ISSN 1476-4679, 2015, Volume 18, Issue 1, pp. 122 - 131
Journal Article
Nursing children and young people, 06/2017, Volume 29, Issue 5, p. 15
Journal Article
Human molecular genetics, ISSN 1460-2083, 2015, Volume 24, Issue 1, pp. 230 - 242
Journal Article
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 0027-8424, 10/2012, Volume 109, Issue 42, pp. 16951 - 16956
Joubert syndrome (JS) and Meckel syndrome (MKS) are pleiotropic ciliopathies characterized by severe defects of the cerebellar vermis, ranging from hypoplasia to aplasia... 
Cerebellum | Hemispheres | Messenger RNA | Neurons | Cell lines | Stem cells | Fetus | Neural stem cells | In situ hybridization | Cilia | Hindbrain | Granular neuron | Developmental pathology | SONIC HEDGEHOG | MULTIDISCIPLINARY SCIENCES | DISORDERS | CELL-PROLIFERATION | hindbrain | BETA-CATENIN | granular neuron | PRIMARY CILIUM | CENTROSOMAL PROTEIN | PROGENITOR POOL | MECKEL-SYNDROME | EXPANSION | cilia | developmental pathology | MOUSE CEREBELLUM | Immunohistochemistry | Retina - metabolism | Cell Proliferation | Humans | Hedgehog Proteins - metabolism | Neoplasm Proteins - metabolism | Encephalocele - metabolism | Cerebellum - embryology | In Situ Hybridization | Polycystic Kidney Diseases - pathology | Retinitis Pigmentosa | Cerebellar Diseases - pathology | RNA Interference | Statistics, Nonparametric | Antigens, Neoplasm - metabolism | Neoplasm Proteins - genetics | Eye Abnormalities - metabolism | Antigens, Neoplasm - genetics | Microscopy, Electron, Transmission | Polycystic Kidney Diseases - metabolism | Cerebellar Diseases - metabolism | Cerebellum - metabolism | Abnormalities, Multiple | Cerebellum - pathology | Granulocyte Precursor Cells - physiology | Kidney Diseases, Cystic - pathology | Kidney Diseases, Cystic - metabolism | Animals | Ciliary Motility Disorders - pathology | Encephalocele - pathology | Eye Abnormalities - pathology | Retina - abnormalities | Signal Transduction - physiology | Mice | Ciliary Motility Disorders - metabolism | Retina - pathology | Microscopy, Fluorescence | Cell proliferation | Brain | Joubert syndrome | Physiological aspects | Development and progression | Meckel-Gruber syndrome | Research | Health aspects | Biological Sciences
Journal Article