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NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.
Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C. Boute N, et al. Among authors: antignac c. Nat Genet. 2000 Apr;24(4):349-54. doi: 10.1038/74166. Nat Genet. 2000. PMID: 10742096
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: antignac c. Am J Hum Genet. 1992 Jul;51(1):135-42. Am J Hum Genet. 1992. PMID: 1376965 Free PMC article.
[Congenital or childhood nephrotic syndrome with diffuse mesangial sclerosis].
Habib R, Gubler MC, Antignac C, Loirat C, Gangnadoux MF. Habib R, et al. Among authors: antignac c. Ann Pediatr (Paris). 1990 Feb;37(2):73-7. Ann Pediatr (Paris). 1990. PMID: 2157355 Review. French.
Toward the identification of a gene for familial juvenile nephronophthisis (autosomal recessive medullary cystic kidney disease).
Antignac C, Kleinknecht C, Habib R. Antignac C, et al. Adv Nephrol Necker Hosp. 1995;24:379-93. Adv Nephrol Necker Hosp. 1995. PMID: 7572421 Review. No abstract available.
Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome.
Knebelmann B, Forestier L, Drouot L, Quinones S, Chuet C, Benessy F, Saus J, Antignac C. Knebelmann B, et al. Among authors: antignac c. Hum Mol Genet. 1995 Apr;4(4):675-9. doi: 10.1093/hmg/4.4.675. Hum Mol Genet. 1995. PMID: 7633417
Molecular genetics of basement membranes: the paradigm of Alport syndrome.
Antignac C. Antignac C. Kidney Int Suppl. 1995 Jun;49:S29-33. Kidney Int Suppl. 1995. PMID: 7674589 Review. No abstract available.
Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution.
Gubler MC, Knebelmann B, Beziau A, Broyer M, Pirson Y, Haddoum F, Kleppel MM, Antignac C. Gubler MC, et al. Among authors: antignac c. Kidney Int. 1995 Apr;47(4):1142-7. doi: 10.1038/ki.1995.163. Kidney Int. 1995. PMID: 7783412
Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity.
Medhioub M, Cherif D, Benessy F, Silbermann F, Gubler MC, Le Paslier D, Cohen D, Weissenbach J, Beckmann J, Antignac C. Medhioub M, et al. Among authors: antignac c. Genomics. 1994 Jul 15;22(2):296-301. doi: 10.1006/geno.1994.1387. Genomics. 1994. PMID: 7806215
Isolation of kidney complementary DNAs down-expressed in Wilms' tumor by a subtractive hybridization approach.
Austruy E, Cohen-Salmon M, Antignac C, Béroud C, Henry I, Nguyen VC, Brugières L, Junien C, Jeanpierre C. Austruy E, et al. Among authors: antignac c. Cancer Res. 1993 Jun 15;53(12):2888-94. Cancer Res. 1993. PMID: 7916648
A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.
Antignac C, Arduy CH, Beckmann JS, Benessy F, Gros F, Medhioub M, Hildebrandt F, Dufier JL, Kleinknecht C, Broyer M, et al. Antignac C, et al. Nat Genet. 1993 Apr;3(4):342-5. doi: 10.1038/ng0493-342. Nat Genet. 1993. PMID: 7981755
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