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Ciliopathies: an expanding disease spectrum.
Waters AM, Beales PL. Waters AM, et al. Among authors: beales pl. Pediatr Nephrol. 2011 Jul;26(7):1039-56. doi: 10.1007/s00467-010-1731-7. Epub 2011 Jan 6. Pediatr Nephrol. 2011. PMID: 21210154 Free PMC article. Review.
Bardet-Biedl syndrome: beyond the cilium.
Tobin JL, Beales PL. Tobin JL, et al. Among authors: beales pl. Pediatr Nephrol. 2007 Jul;22(7):926-36. doi: 10.1007/s00467-007-0435-0. Epub 2007 Mar 15. Pediatr Nephrol. 2007. PMID: 17357787 Free PMC article. Review.
The nonmotile ciliopathies.
Tobin JL, Beales PL. Tobin JL, et al. Among authors: beales pl. Genet Med. 2009 Jun;11(6):386-402. doi: 10.1097/GIM.0b013e3181a02882. Genet Med. 2009. PMID: 19421068 Free article. Review.
Making sense of cilia in disease: the human ciliopathies.
Baker K, Beales PL. Baker K, et al. Among authors: beales pl. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):281-95. doi: 10.1002/ajmg.c.30231. Am J Med Genet C Semin Med Genet. 2009. PMID: 19876933 Review.
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.
Rooryck C, Diaz-Font A, Osborn DP, Chabchoub E, Hernandez-Hernandez V, Shamseldin H, Kenny J, Waters A, Jenkins D, Kaissi AA, Leal GF, Dallapiccola B, Carnevale F, Bitner-Glindzicz M, Lees M, Hennekam R, Stanier P, Burns AJ, Peeters H, Alkuraya FS, Beales PL. Rooryck C, et al. Among authors: beales pl. Nat Genet. 2011 Mar;43(3):197-203. doi: 10.1038/ng.757. Epub 2011 Jan 23. Nat Genet. 2011. PMID: 21258343 Free PMC article.
Characterisation and validation of insertions and deletions in 173 patient exomes.
Lescai F, Bonfiglio S, Bacchelli C, Chanudet E, Waters A, Sisodiya SM, Kasperavičiūtė D, Williams J, Harold D, Hardy J, Kleta R, Cirak S, Williams R, Achermann JC, Anderson J, Kelsell D, Vulliamy T, Houlden H, Wood N, Sheerin U, Tonini GP, Mackay D, Hussain K, Sowden J, Kinsler V, Osinska J, Brooks T, Hubank M, Beales P, Stupka E. Lescai F, et al. PLoS One. 2012;7(12):e51292. doi: 10.1371/journal.pone.0051292. Epub 2012 Dec 14. PLoS One. 2012. PMID: 23251486 Free PMC article.
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanović R, Peco-Antić A, Mache C, Hurles ME, Joksić I, Guć-Šćekić M, Dobricic J, Brankovic-Magic M, Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C. Schmidts M, et al. Among authors: beales pl. Hum Mutat. 2013 May;34(5):714-24. doi: 10.1002/humu.22294. Hum Mutat. 2013. PMID: 23418020 Free PMC article.
148 results