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Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis.
Boyer O, Benoit G, Gribouval O, Nevo F, Tête MJ, Dantal J, Gilbert-Dussardier B, Touchard G, Karras A, Presne C, Grunfeld JP, Legendre C, Joly D, Rieu P, Mohsin N, Hannedouche T, Moal V, Gubler MC, Broutin I, Mollet G, Antignac C. Boyer O, et al. Among authors: grunfeld jp. J Am Soc Nephrol. 2011 Feb;22(2):239-45. doi: 10.1681/ASN.2010050518. Epub 2011 Jan 21. J Am Soc Nephrol. 2011. PMID: 21258034 Free PMC article.
Genetic, clinical, and morphologic heterogeneity in Alport's syndrome.
Gubler MC, Antignac C, Deschênes G, Knebelmann B, Hors-Cayla MC, Grünfeld JP, Broyer M, Habib R. Gubler MC, et al. Among authors: grunfeld jp. Adv Nephrol Necker Hosp. 1993;22:15-35. Adv Nephrol Necker Hosp. 1993. PMID: 8427057 Review. No abstract available.
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: grunfeld jp. Am J Hum Genet. 1996 Dec;59(6):1221-32. Am J Hum Genet. 1996. PMID: 8940267 Free PMC article.
Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.
Knebelmann B, Deschenes G, Gros F, Hors MC, Grünfeld JP, Zhou J, Tryggvason K, Gubler MC, Antignac C. Knebelmann B, et al. Among authors: grunfeld jp. Am J Hum Genet. 1992 Jul;51(1):135-42. Am J Hum Genet. 1992. PMID: 1376965 Free PMC article.
Cyclosporin therapy in patients with Alport syndrome.
Charbit M, Gubler MC, Dechaux M, Gagnadoux MF, Grünfeld JP, Niaudet P. Charbit M, et al. Among authors: grunfeld jp. Pediatr Nephrol. 2007 Jan;22(1):57-63. doi: 10.1007/s00467-006-0227-y. Epub 2006 Sep 21. Pediatr Nephrol. 2007. PMID: 17024394 Clinical Trial.
Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.
Antignac C, Knebelmann B, Drouot L, Gros F, Deschênes G, Hors-Cayla MC, Zhou J, Tryggvason K, Grünfeld JP, Broyer M, et al. Antignac C, et al. Among authors: grunfeld jp. J Clin Invest. 1994 Mar;93(3):1195-207. doi: 10.1172/JCI117073. J Clin Invest. 1994. PMID: 8132760 Free PMC article.
346 results