Antignac C - Search Results

1

Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

Morinière V, Dahan K, Hilbert P, Lison M, Lebbah S, Topa A, Bole-Feysot C, Pruvost S, Nitschke P, Plaisier E, Knebelmann B, Macher MA, Noel LH, Gubler MC, Antignac C, Heidet L. Morinière V, et al. Among authors: antignac c. J Am Soc Nephrol. 2014 Dec;25(12):2740-51. doi: 10.1681/ASN.2013080912. Epub 2014 May 22. J Am Soc Nephrol. 2014. PMID: 24854265 Free PMC article.

2

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.

3

Alport syndrome and diffuse leiomyomatosis: deletions in the 5' end of the COL4A5 collagen gene.

Antignac C, Zhou J, Sanak M, Cochat P, Roussel B, Deschênes G, Gros F, Knebelmann B, Hors-Cayla MC, Tryggvason K, et al. Antignac C, et al. Kidney Int. 1992 Nov;42(5):1178-83. doi: 10.1038/ki.1992.402. Kidney Int. 1992. PMID: 1453602 Free article.

4

[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.

5

Delayed renal failure with extensive mesangiolysis following bone marrow transplantation.

Antignac C, Gubler MC, Leverger G, Broyer M, Habib R. Antignac C, et al. Kidney Int. 1989 Jun;35(6):1336-44. doi: 10.1038/ki.1989.132. Kidney Int. 1989. PMID: 2671466 Free article.

6

De novo membranous glomerulonephritis in renal allografts in children.

Antignac C, Hinglais N, Gubler MC, Gagnadoux MF, Broyer M, Habib R. Antignac C, et al. Clin Nephrol. 1988 Jul;30(1):1-7. Clin Nephrol. 1988. PMID: 3061691

7

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

8

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 Free article.

9

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

10

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome.

Mochizuki T, Lemmink HH, Mariyama M, Antignac C, Gubler MC, Pirson Y, Verellen-Dumoulin C, Chan B, Schröder CH, Smeets HJ, et al. Mochizuki T, et al. Among authors: antignac c. Nat Genet. 1994 Sep;8(1):77-81. doi: 10.1038/ng0994-77. Nat Genet. 1994. PMID: 7987396

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