Pirson Y - Search Results

1

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: pirson y. Nat Genet. 1994 Sep;8(1):77-81. doi: 10.1038/ng0994-77. Nat Genet. 1994. PMID: 7987396

2

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: pirson y. Kidney Int. 1995 Apr;47(4):1142-7. doi: 10.1038/ki.1995.163. Kidney Int. 1995. PMID: 7783412 Free article.

3

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.

Jais JP, Knebelmann B, Giatras I, Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. Jais JP, et al. Among authors: pirson y. J Am Soc Nephrol. 2000 Apr;11(4):649-657. doi: 10.1681/ASN.V114649. J Am Soc Nephrol. 2000. PMID: 10752524

4

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.

Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Dahan K, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. Jais JP, et al. Among authors: pirson y. J Am Soc Nephrol. 2003 Oct;14(10):2603-10. doi: 10.1097/01.asn.0000090034.71205.74. J Am Soc Nephrol. 2003. PMID: 14514738

5

Mutations in SEC63 cause autosomal dominant polycystic liver disease.

Davila S, Furu L, Gharavi AG, Tian X, Onoe T, Qian Q, Li A, Cai Y, Kamath PS, King BF, Azurmendi PJ, Tahvanainen P, Kääriäinen H, Höckerstedt K, Devuyst O, Pirson Y, Martin RS, Lifton RP, Tahvanainen E, Torres VE, Somlo S. Davila S, et al. Among authors: pirson y. Nat Genet. 2004 Jun;36(6):575-7. doi: 10.1038/ng1357. Epub 2004 May 9. Nat Genet. 2004. PMID: 15133510

6

Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease?

Dahan K, Fuchshuber A, Adamis S, Smaers M, Kroiss S, Loute G, Cosyns JP, Hildebrandt F, Verellen-Dumoulin C, Pirson Y. Dahan K, et al. Among authors: pirson y. J Am Soc Nephrol. 2001 Nov;12(11):2348-2357. doi: 10.1681/ASN.V12112348. J Am Soc Nephrol. 2001. PMID: 11675411

7

Intracranial aneurysms in autosomal dominant polycystic kidney disease.

Chauveau D, Pirson Y, Verellen-Dumoulin C, Macnicol A, Gonzalo A, Grünfeld JP. Chauveau D, et al. Among authors: pirson y. Kidney Int. 1994 Apr;45(4):1140-6. doi: 10.1038/ki.1994.151. Kidney Int. 1994. PMID: 8007584 Free article.

8

A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.

Dahan K, Devuyst O, Smaers M, Vertommen D, Loute G, Poux JM, Viron B, Jacquot C, Gagnadoux MF, Chauveau D, Büchler M, Cochat P, Cosyns JP, Mougenot B, Rider MH, Antignac C, Verellen-Dumoulin C, Pirson Y. Dahan K, et al. Among authors: pirson y. J Am Soc Nephrol. 2003 Nov;14(11):2883-93. doi: 10.1097/01.asn.0000092147.83480.b5. J Am Soc Nephrol. 2003. PMID: 14569098

9

Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2.

Pirson Y, Lannoy N, Peters D, Geubel A, Gigot JF, Breuning M, Verellen-Dumoulin C. Pirson Y, et al. Hepatology. 1996 Feb;23(2):249-52. doi: 10.1002/hep.510230208. Hepatology. 1996. PMID: 8591848

10

CF gene and cystic fibrosis transmembrane conductance regulator expression in autosomal dominant polycystic kidney disease.

Persu A, Devuyst O, Lannoy N, Materne R, Brosnahan G, Gabow PA, Pirson Y, Verellen-Dumoulin C. Persu A, et al. Among authors: pirson y. J Am Soc Nephrol. 2000 Dec;11(12):2285-2296. doi: 10.1681/ASN.V11122285. J Am Soc Nephrol. 2000. PMID: 11095651

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