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A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.
Huynh Cong E, Bizet AA, Boyer O, Woerner S, Gribouval O, Filhol E, Arrondel C, Thomas S, Silbermann F, Canaud G, Hachicha J, Ben Dhia N, Peraldi MN, Harzallah K, Iftene D, Daniel L, Willems M, Noel LH, Bole-Feysot C, Nitschké P, Gubler MC, Mollet G, Saunier S, Antignac C. Huynh Cong E, et al. Among authors: arrondel c. J Am Soc Nephrol. 2014 Nov;25(11):2435-43. doi: 10.1681/ASN.2013101126. Epub 2014 May 29. J Am Soc Nephrol. 2014. PMID: 24876116 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: arrondel c. Am J Hum Genet. 1996 Dec;59(6):1221-32. Am J Hum Genet. 1996. PMID: 8940267 Free PMC article.
Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.
Badenas C, Praga M, Tazón B, Heidet L, Arrondel C, Armengol A, Andrés A, Morales E, Camacho JA, Lens X, Dávila S, Milà M, Antignac C, Darnell A, Torra R. Badenas C, et al. Among authors: arrondel c. J Am Soc Nephrol. 2002 May;13(5):1248-1254. doi: 10.1681/ASN.V1351248. J Am Soc Nephrol. 2002. PMID: 11961012
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC. Gribouval O, et al. Among authors: arrondel c. Hum Mutat. 2012 Feb;33(2):316-26. doi: 10.1002/humu.21661. Epub 2011 Dec 22. Hum Mutat. 2012. PMID: 22095942 Review.
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
Boyer O, Nevo F, Plaisier E, Funalot B, Gribouval O, Benoit G, Huynh Cong E, Arrondel C, Tête MJ, Montjean R, Richard L, Karras A, Pouteil-Noble C, Balafrej L, Bonnardeaux A, Canaud G, Charasse C, Dantal J, Deschenes G, Deteix P, Dubourg O, Petiot P, Pouthier D, Leguern E, Guiochon-Mantel A, Broutin I, Gubler MC, Saunier S, Ronco P, Vallat JM, Alonso MA, Antignac C, Mollet G. Boyer O, et al. Among authors: arrondel c. N Engl J Med. 2011 Dec 22;365(25):2377-88. doi: 10.1056/NEJMoa1109122. N Engl J Med. 2011. PMID: 22187985 Free article.
33 results