Antignac C - Search Results

1

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice.

Knoers N, Antignac C, Bergmann C, Dahan K, Giglio S, Heidet L, Lipska-Ziętkiewicz BS, Noris M, Remuzzi G, Vargas-Poussou R, Schaefer F. Knoers N, et al. Among authors: antignac c. Nephrol Dial Transplant. 2022 Jan 25;37(2):239-254. doi: 10.1093/ndt/gfab218. Nephrol Dial Transplant. 2022. PMID: 34264297 Free PMC article.

2

Mutations in Alport syndrome associated with diffuse esophageal leiomyomatosis.

Antignac C, Heidet L. Antignac C, et al. Contrib Nephrol. 1996;117:172-82. doi: 10.1159/000424813. Contrib Nephrol. 1996. PMID: 8801045 Review. No abstract available.

3

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

4

Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus.

Vargas-Poussou R, Forestier L, Dautzenberg MD, Niaudet P, Déchaux M, Antignac C. Vargas-Poussou R, et al. Among authors: antignac c. J Am Soc Nephrol. 1997 Dec;8(12):1855-62. doi: 10.1681/ASN.V8121855. J Am Soc Nephrol. 1997. PMID: 9402087

5

Somatic deletion of the 5' ends of both the COL4A5 and COL4A6 genes in a sporadic leiomyoma of the esophagus.

Heidet L, Boye E, Cai Y, Sado Y, Zhang X, Fléjou JF, Fékété F, Ninomiya Y, Gubler MC, Antignac C. Heidet L, et al. Among authors: antignac c. Am J Pathol. 1998 Mar;152(3):673-8. Am J Pathol. 1998. PMID: 9502408 Free PMC article.

6

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.

Vargas-Poussou R, Feldmann D, Vollmer M, Konrad M, Kelly L, van den Heuvel LP, Tebourbi L, Brandis M, Karolyi L, Hebert SC, Lemmink HH, Deschênes G, Hildebrandt F, Seyberth HW, Guay-Woodford LM, Knoers NV, Antignac C. Vargas-Poussou R, et al. Among authors: antignac c. Am J Hum Genet. 1998 Jun;62(6):1332-40. doi: 10.1086/301872. Am J Hum Genet. 1998. PMID: 9585600 Free PMC article.

7

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.

8

Mutations in the vasopressin V2 receptor and aquaporin-2 genes in twelve families with congenital nephrogenic diabetes insipidus.

Vargas-Poussou R, Forestier L, Dautzenberg MD, Niaudet P, Déchaux M, Antignac C. Vargas-Poussou R, et al. Among authors: antignac c. Adv Exp Med Biol. 1998;449:387-90. doi: 10.1007/978-1-4615-4871-3_49. Adv Exp Med Biol. 1998. PMID: 10026829 No abstract available.

9

Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys.

Heidet L, Cai Y, Guicharnaud L, Antignac C, Gubler MC. Heidet L, et al. Among authors: antignac c. Am J Pathol. 2000 Jun;156(6):1901-10. doi: 10.1016/S0002-9440(10)65063-8. Am J Pathol. 2000. PMID: 10854213 Free PMC article.

10

Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31.

Vollmer M, Jeck N, Lemmink HH, Vargas R, Feldmann D, Konrad M, Beekmann F, van Den Heuvel LP, Deschenes G, Guay-Woodford LM, Antignac C, Seyberth HW, Hildebrandt F, Knoers NV. Vollmer M, et al. Among authors: antignac c. Nephrol Dial Transplant. 2000 Jul;15(7):970-4. doi: 10.1093/ndt/15.7.970. Nephrol Dial Transplant. 2000. PMID: 10862633

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