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IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.
Perrault I, Halbritter J, Porath JD, Gérard X, Braun DA, Gee HY, Fathy HM, Saunier S, Cormier-Daire V, Thomas S, Attié-Bitach T, Boddaert N, Taschner M, Schueler M, Lorentzen E, Lifton RP, Lawson JA, Garfa-Traore M, Otto EA, Bastin P, Caillaud C, Kaplan J, Rozet JM, Hildebrandt F. Perrault I, et al. J Med Genet. 2015 Oct;52(10):657-65. doi: 10.1136/jmedgenet-2014-102838. Epub 2015 Aug 14. J Med Genet. 2015. PMID: 26275418 Free PMC article.
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
Charif M, Nasca A, Thompson K, Gerber S, Makowski C, Mazaheri N, Bris C, Goudenège D, Legati A, Maroofian R, Shariati G, Lamantea E, Hopton S, Ardissone A, Moroni I, Giannotta M, Siegel C, Strom TM, Prokisch H, Vignal-Clermont C, Derrien S, Zanlonghi X, Kaplan J, Hamel CP, Leruez S, Procaccio V, Bonneau D, Reynier P, White FE, Hardy SA, Barbosa IA, Simpson MA, Vara R, Perdomo Trujillo Y, Galehdari H, Deshpande C, Haack TB, Rozet JM, Taylor RW, Ghezzi D, Amati-Bonneau P, Lenaers G. Charif M, et al. JAMA Neurol. 2018 Jan 1;75(1):105-113. doi: 10.1001/jamaneurol.2017.2065. JAMA Neurol. 2018. PMID: 29181510 Free PMC article.
Impact of lymphovascular invasion on oncological outcomes in patients with upper tract urothelial carcinoma after radical nephroureterectomy.
Hurel S, Rouprêt M, Ouzzane A, Rozet F, Xylinas E, Zerbib M, Berod AA, Ruffion A, Adam E, Cussenot O, Houlgatte A, Phé V, Nouhaud FX, Bensadoun H, Delage F, Guillotreau J, Guy L, Karsenty G, De La Taille A, Colin P; French Collaborative National Database on UTUC. Hurel S, et al. BJU Int. 2013 Jun;111(8):1199-207. doi: 10.1111/bju.12116. Epub 2013 Apr 12. BJU Int. 2013. PMID: 23650914