Antignac C - Search Results

1

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

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

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.

5

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.

6

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

7

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

8

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

9

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. J Clin Invest. 1994 Mar;93(3):1195-207. doi: 10.1172/JCI117073. J Clin Invest. 1994. PMID: 8132760 Free PMC article.

10

A molecular approach to inherited kidney disorders.

Knebelmann B, Antignac C, Gubler NC, Grünfeld JP. Knebelmann B, et al. Among authors: antignac c. Kidney Int. 1993 Dec;44(6):1205-16. doi: 10.1038/ki.1993.370. Kidney Int. 1993. PMID: 8301921 Free article. Review. No abstract available.

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