Antignac C - Search Results

1

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.

Sharp AM, Messiaen LM, Page G, Antignac C, Gubler MC, Onuchic LF, Somlo S, Germino GG, Guay-Woodford LM. Sharp AM, et al. Among authors: antignac c. J Med Genet. 2005 Apr;42(4):336-49. doi: 10.1136/jmg.2004.024489. J Med Genet. 2005. PMID: 15805161 Free PMC article. No abstract available.

2

Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome.

Boyer O, Benoit G, Gribouval O, Nevo F, Pawtowski A, Bilge I, Bircan Z, Deschênes G, Guay-Woodford LM, Hall M, Macher MA, Soulami K, Stefanidis CJ, Weiss R, Loirat C, Gubler MC, Antignac C. Boyer O, et al. Among authors: antignac c. J Med Genet. 2010 Jul;47(7):445-52. doi: 10.1136/jmg.2009.076166. J Med Genet. 2010. PMID: 20591883 Free article.

3

[Current data on hereditary nephropathies].

Gubler MC, Antignac C. Gubler MC, et al. Among authors: antignac c. Arch Pediatr. 1996;3 Suppl 1:341s-342s. doi: 10.1016/0929-693x(96)86095-7. Arch Pediatr. 1996. PMID: 8796070 French. No abstract available.

4

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.

5

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

Boye E, Mollet G, Forestier L, Cohen-Solal L, Heidet L, Cochat P, Grünfeld JP, Palcoux JB, Gubler MC, Antignac C. Boye E, et al. Among authors: antignac c. Am J Hum Genet. 1998 Nov;63(5):1329-40. doi: 10.1086/302106. Am J Hum Genet. 1998. PMID: 9792860 Free PMC article.

6

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

7

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

8

PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.

Amiel J, Audollent S, Joly D, Dureau P, Salomon R, Tellier AL, Augé J, Bouissou F, Antignac C, Gubler MC, Eccles MR, Munnich A, Vekemans M, Lyonnet S, Attié-Bitach T. Amiel J, et al. Among authors: antignac c. Eur J Hum Genet. 2000 Nov;8(11):820-6. doi: 10.1038/sj.ejhg.5200539. Eur J Hum Genet. 2000. PMID: 11093271

9

The Future of Polycystic Kidney Disease Research--As Seen By the 12 Kaplan Awardees.

Antignac C, Calvet JP, Germino GG, Grantham JJ, Guay-Woodford LM, Harris PC, Hildebrandt F, Peters DJ, Somlo S, Torres VE, Walz G, Zhou J, Yu AS. Antignac C, et al. J Am Soc Nephrol. 2015 Sep;26(9):2081-95. doi: 10.1681/ASN.2014121192. Epub 2015 May 7. J Am Soc Nephrol. 2015. PMID: 25952256 Free PMC article.

10

[Prenatal diagnosis of autosomal recessive polycystic kidney disease].

Gagnadoux MF, Attié T, Amiel J, Gigarel N, Bonnefont JP, Munnich A, Gubler MC, Antignac C. Gagnadoux MF, et al. Among authors: antignac c. Arch Pediatr. 2000 Sep;7(9):942-7. doi: 10.1016/s0929-693x(00)90007-1. Arch Pediatr. 2000. PMID: 11028201 French.

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