Antignac C - Search Results

1

Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.

Konrad M, Vollmer M, Lemmink HH, VAN DEN Heuvel LPWJ, Jeck N, Vargas-Poussou R, Lakings A, Ruf R, Deschênes G, Antignac C, Guay-Woodford L, Knoers NVAM, Seyberth HW, Feldmann D, Hildebrandt F. Konrad M, et al. Among authors: antignac c. J Am Soc Nephrol. 2000 Aug;11(8):1449-1459. doi: 10.1681/ASN.V1181449. J Am Soc Nephrol. 2000. PMID: 10906158

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

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

5

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.

6

Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. APN Study Group.

Hildebrandt F, Singh-Sawhney I, Schnieders B, Centofante L, Omran H, Pohlmann A, Schmaltz C, Wedekind H, Schubotz C, Antignac C, et al. Hildebrandt F, et al. Among authors: antignac c. Am J Hum Genet. 1993 Dec;53(6):1256-61. Am J Hum Genet. 1993. PMID: 8250041 Free PMC article.

7

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: antignac c. Adv Nephrol Necker Hosp. 1993;22:15-35. Adv Nephrol Necker Hosp. 1993. PMID: 8427057 Review. No abstract available.

8

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis.

Konrad M, Saunier S, Heidet L, Silbermann F, Benessy F, Calado J, Le Paslier D, Broyer M, Gubler MC, Antignac C. Konrad M, et al. Among authors: antignac c. Hum Mol Genet. 1996 Mar;5(3):367-71. doi: 10.1093/hmg/5.3.367. Hum Mol Genet. 1996. PMID: 8852662

9

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: antignac c. Am J Hum Genet. 1996 Dec;59(6):1221-32. Am J Hum Genet. 1996. PMID: 8940267 Free PMC article.

10

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis.

Saunier S, Calado J, Heilig R, Silbermann F, Benessy F, Morin G, Konrad M, Broyer M, Gubler MC, Weissenbach J, Antignac C. Saunier S, et al. Among authors: antignac c. Hum Mol Genet. 1997 Dec;6(13):2317-23. doi: 10.1093/hmg/6.13.2317. Hum Mol Genet. 1997. PMID: 9361039

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