These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
7. Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI). Al-Qattan MM; Shaheen R; Alkuraya FS Am J Med Genet A; 2017 Sep; 173(9):2439-2441. PubMed ID: 28631893 [TBL] [Abstract][Full Text] [Related]
8. Cilia in the nervous system: linking cilia function and neurodevelopmental disorders. Lee JE; Gleeson JG Curr Opin Neurol; 2011 Apr; 24(2):98-105. PubMed ID: 21386674 [TBL] [Abstract][Full Text] [Related]
9. The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking. Bachmann-Gagescu R; Dona M; Hetterschijt L; Tonnaer E; Peters T; de Vrieze E; Mans DA; van Beersum SE; Phelps IG; Arts HH; Keunen JE; Ueffing M; Roepman R; Boldt K; Doherty D; Moens CB; Neuhauss SC; Kremer H; van Wijk E PLoS Genet; 2015 Oct; 11(10):e1005575. PubMed ID: 26485645 [TBL] [Abstract][Full Text] [Related]
10. Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing. Knopp C; Rudnik-Schöneborn S; Eggermann T; Bergmann C; Begemann M; Schoner K; Zerres K; Ortiz Brüchle N Mol Cell Probes; 2015 Oct; 29(5):299-307. PubMed ID: 26003401 [TBL] [Abstract][Full Text] [Related]
11. The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. Leightner AC; Hommerding CJ; Peng Y; Salisbury JL; Gainullin VG; Czarnecki PG; Sussman CR; Harris PC Hum Mol Genet; 2013 May; 22(10):2024-40. PubMed ID: 23393159 [TBL] [Abstract][Full Text] [Related]
12. Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects. Abdelhamed ZA; Wheway G; Szymanska K; Natarajan S; Toomes C; Inglehearn C; Johnson CA Hum Mol Genet; 2013 Apr; 22(7):1358-72. PubMed ID: 23283079 [TBL] [Abstract][Full Text] [Related]
13. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. Romani M; Micalizzi A; Kraoua I; Dotti MT; Cavallin M; Sztriha L; Ruta R; Mancini F; Mazza T; Castellana S; Hanene B; Carluccio MA; Darra F; Máté A; Zimmermann A; Gouider-Khouja N; Valente EM Orphanet J Rare Dis; 2014 May; 9():72. PubMed ID: 24886560 [TBL] [Abstract][Full Text] [Related]
14. Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. Shaheen R; Shamseldin HE; Loucks CM; Seidahmed MZ; Ansari S; Ibrahim Khalil M; Al-Yacoub N; Davis EE; Mola NA; Szymanska K; Herridge W; Chudley AE; Chodirker BN; Schwartzentruber J; Majewski J; Katsanis N; Poizat C; Johnson CA; Parboosingh J; Boycott KM; Innes AM; Alkuraya FS Am J Hum Genet; 2014 Jan; 94(1):73-9. PubMed ID: 24360803 [TBL] [Abstract][Full Text] [Related]
19. Making sense of cilia and flagella. Sloboda RD; Rosenbaum JL J Cell Biol; 2007 Nov; 179(4):575-82. PubMed ID: 18025299 [TBL] [Abstract][Full Text] [Related]
20. A function for the Joubert syndrome protein Arl13b in ciliary membrane extension and ciliary length regulation. Lu H; Toh MT; Narasimhan V; Thamilselvam SK; Choksi SP; Roy S Dev Biol; 2015 Jan; 397(2):225-36. PubMed ID: 25448689 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]