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Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D. Bachmann-Gagescu R, et al. Among authors: glass ia. Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11. Am J Med Genet A. 2020. PMID: 31710777 Free PMC article. Review.
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, Giray O, Al Swaid A, Al Shahwan S, Dohayan N, Bakhsh E, Indridason OS, Dobyns WB, Bennett CL, Chance PF, Glass IA. Parisi MA, et al. Among authors: glass ia. J Med Genet. 2006 Apr;43(4):334-9. doi: 10.1136/jmg.2005.036608. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155189 Free PMC article.
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F. Sayer JA, et al. Among authors: glass ia. Nat Genet. 2006 Jun;38(6):674-81. doi: 10.1038/ng1786. Epub 2006 May 7. Nat Genet. 2006. PMID: 16682973
A case of true hermaphroditism reveals an unusual mechanism of twinning.
Souter VL, Parisi MA, Nyholt DR, Kapur RP, Henders AK, Opheim KE, Gunther DF, Mitchell ME, Glass IA, Montgomery GW. Souter VL, et al. Among authors: glass ia. Hum Genet. 2007 Apr;121(2):179-85. doi: 10.1007/s00439-006-0279-x. Epub 2006 Dec 13. Hum Genet. 2007. PMID: 17165045
191 results