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Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM. Perrault I, et al. Among authors: antignac c. Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006. Epub 2012 Apr 12. Am J Hum Genet. 2012. PMID: 22503633 Free PMC article.
Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.
Knebelmann B, Breillat C, Forestier L, Arrondel C, Jacassier D, Giatras I, Drouot L, Deschênes G, Grünfeld JP, Broyer M, Gubler MC, Antignac C. Knebelmann B, et al. Among authors: antignac c. Am J Hum Genet. 1996 Dec;59(6):1221-32. Am J Hum Genet. 1996. PMID: 8940267 Free PMC article.
Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.
Vargas-Poussou R, Feldmann D, Vollmer M, Konrad M, Kelly L, van den Heuvel LP, Tebourbi L, Brandis M, Karolyi L, Hebert SC, Lemmink HH, Deschênes G, Hildebrandt F, Seyberth HW, Guay-Woodford LM, Knoers NV, Antignac C. Vargas-Poussou R, et al. Among authors: antignac c. Am J Hum Genet. 1998 Jun;62(6):1332-40. doi: 10.1086/301872. Am J Hum Genet. 1998. PMID: 9585600 Free PMC article.
Familial juvenile nephronophthisis.
Konrad M, Saunier S, Calado J, Gubler MC, Broyer M, Antignac C. Konrad M, et al. Among authors: antignac c. J Mol Med (Berl). 1998 Apr;76(5):310-6. doi: 10.1007/s001090050222. J Mol Med (Berl). 1998. PMID: 9587065 Review.
314 results