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Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, Tobin J, Lieberer E, Sterner C, Landoure G, Arora R, Sirimanna T, Thompson D, Cross JH, van't Hoff W, Al Masri O, Tullus K, Yeung S, Anikster Y, Klootwijk E, Hubank M, Dillon MJ, Heitzmann D, Arcos-Burgos M, Knepper MA, Dobbie A, Gahl WA, Warth R, Sheridan E, Kleta R. Bockenhauer D, et al. Among authors: tobin j. N Engl J Med. 2009 May 7;360(19):1960-70. doi: 10.1056/NEJMoa0810276. N Engl J Med. 2009. PMID: 19420365 Free PMC article.
The nonmotile ciliopathies.
Tobin JL, Beales PL. Tobin JL, et al. Genet Med. 2009 Jun;11(6):386-402. doi: 10.1097/GIM.0b013e3181a02882. Genet Med. 2009. PMID: 19421068 Free article. Review.
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome.
Tobin JL, Di Franco M, Eichers E, May-Simera H, Garcia M, Yan J, Quinlan R, Justice MJ, Hennekam RC, Briscoe J, Tada M, Mayor R, Burns AJ, Lupski JR, Hammond P, Beales PL. Tobin JL, et al. Proc Natl Acad Sci U S A. 2008 May 6;105(18):6714-9. doi: 10.1073/pnas.0707057105. Epub 2008 Apr 28. Proc Natl Acad Sci U S A. 2008. PMID: 18443298 Free PMC article.
Bardet-Biedl syndrome: beyond the cilium.
Tobin JL, Beales PL. Tobin JL, et al. 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.
1,021 results