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European Journal of Pediatrics, ISSN 0340-6199, 9/2012, Volume 171, Issue 9, pp. 1285 - 1300
Cilia are antenna-like organelles found on the surface of most cells. They transduce molecular signals and facilitate interactions between cells and their... 
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
Journal Article
Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2018, Volume 1085, pp. 171 - 174
Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixed rod-cone dystrophy (which... 
Ciliopathy | Bardet-Biedl syndrome | MEDICINE, RESEARCH & EXPERIMENTAL | OPHTHALMOLOGY | GENETICS & HEREDITY | CELL BIOLOGY
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2006, Volume 103, Issue 16, pp. 6287 - 6292
Journal Article