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Ciliopathies.
Hildebrandt F, Benzing T, Katsanis N. Hildebrandt F, et al. N Engl J Med. 2011 Apr 21;364(16):1533-43. doi: 10.1056/NEJMra1010172. N Engl J Med. 2011. PMID: 21506742 Free PMC article. Review.
Diverse developmental and degenerative single-gene disorders such as polycystic kidney disease, nephronophthisis, retinitis pigmentosa, the Bardet-Biedl syndrome, the Joubert syndrome, and the Meckel syndrome may be categorized as ciliopathies - a recent concept that descr …
Diverse developmental and degenerative single-gene disorders such as polycystic kidney disease, nephronophthisis, retinitis pigmentos …
Joubert syndrome and related disorders.
Valente EM, Dallapiccola B, Bertini E. Valente EM, et al. Handb Clin Neurol. 2013;113:1879-88. doi: 10.1016/B978-0-444-59565-2.00058-7. Handb Clin Neurol. 2013. PMID: 23622411 Review.
This picture is often associated with variable multiorgan involvement, mainly of the retina, kidneys, and liver, defining a group of conditions termed Joubert syndrome and related disorders (JSRDs), that share the MTS. To date, 16 causative genes have been identified, all …
This picture is often associated with variable multiorgan involvement, mainly of the retina, kidneys, and liver, defining a group of conditi …
New insights: nephronophthisis-medullary cystic kidney disease.
Hildebrandt F, Omram H. Hildebrandt F, et al. Pediatr Nephrol. 2001 Feb;16(2):168-76. doi: 10.1007/s004670000518. Pediatr Nephrol. 2001. PMID: 11261687 Review.
There is extensive gene locus heterogeneity with at least three different loci for nephronophthisis (NPHP1, NPHP2, and NPHP3) and two different loci for MCKD (MCKD1 and MCKD2). Juvenile nephronophthisis, in addition, can be associated with extrarenal organ involveme …
There is extensive gene locus heterogeneity with at least three different loci for nephronophthisis (NPHP1, NPHP2, and NPHP3) and two …
Cilia: tuning in to the cell's antenna.
Marshall WF, Nonaka S. Marshall WF, et al. Curr Biol. 2006 Aug 8;16(15):R604-14. doi: 10.1016/j.cub.2006.07.012. Curr Biol. 2006. PMID: 16890522 Free article. Review.
Defects in the cilia themselves, or the machinery required to assemble them, lead to a broad spectrum of human disease symptoms, including polycystic kidney disease, nephronophthisis, hydrocephalus, polydactyly, situs inversus, retinal degeneration, and obesity. ...
Defects in the cilia themselves, or the machinery required to assemble them, lead to a broad spectrum of human disease symptoms, including p …
Polycystic kidney disease: the cilium as a common pathway in cystogenesis.
Lina F, Satlinb LM. Lina F, et al. Curr Opin Pediatr. 2004 Apr;16(2):171-6. doi: 10.1097/00008480-200404000-00010. Curr Opin Pediatr. 2004. PMID: 15021197 Review.
RECENT FINDINGS: Mutations in cilia-associated proteins have been identified in a number of diseases associated with cyst formation, including autosomal dominant and recessive PKD, and nephronophthisis. The primary cilia are finger-like projections on the surface of all ki …
RECENT FINDINGS: Mutations in cilia-associated proteins have been identified in a number of diseases associated with cyst formation, includi …
Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease.
Scolari F, Viola BF, Ghiggeri GM, Caridi G, Amoroso A, Rampoldi L, Casari G. Scolari F, et al. J Nephrol. 2003 May-Jun;16(3):321-8. J Nephrol. 2003. PMID: 12832729 Review.
Medullary cystic kidney disease (MCKD) belongs with nephronophthisis (NPH) in a group of inherited tubulo-interstitial nephritis, which has been referred to as the NPH-MCKD complex. ...
Medullary cystic kidney disease (MCKD) belongs with nephronophthisis (NPH) in a group of inherited tubulo-interstitial nephritis, whi …