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Page 1
Type of PKD1 mutation influences renal outcome in ADPKD.
Cornec-Le Gall E, Audrézet MP, Chen JM, Hourmant M, Morin MP, Perrichot R, Charasse C, Whebe B, Renaudineau E, Jousset P, Guillodo MP, Grall-Jezequel A, Saliou P, Férec C, Le Meur Y. Cornec-Le Gall E, et al. Among authors: perrichot r. J Am Soc Nephrol. 2013 May;24(6):1006-13. doi: 10.1681/ASN.2012070650. Epub 2013 Feb 21. J Am Soc Nephrol. 2013. PMID: 23431072 Free PMC article.
The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease.
Cornec-Le Gall E, Audrézet MP, Rousseau A, Hourmant M, Renaudineau E, Charasse C, Morin MP, Moal MC, Dantal J, Wehbe B, Perrichot R, Frouget T, Vigneau C, Potier J, Jousset P, Guillodo MP, Siohan P, Terki N, Sawadogo T, Legrand D, Menoyo-Calonge V, Benarbia S, Besnier D, Longuet H, Férec C, Le Meur Y. Cornec-Le Gall E, et al. Among authors: perrichot r. J Am Soc Nephrol. 2016 Mar;27(3):942-51. doi: 10.1681/ASN.2015010016. Epub 2015 Jul 6. J Am Soc Nephrol. 2016. PMID: 26150605 Free PMC article.
Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants.
Jawaid T, Elbarougy DE, Lavu S, Buia G, Senum SR, Olinger E, Yang H, McDonnell SK, Bublitz JT, Ma J, Audrézet MP, Madsen CD, Schauer RS, Baker TA, Gregory AV, Orr SE, Barroso-Gil M, Neatu R, Joli G, Dahl NK, Kline TL, Gillion V, Dahan K, Jouret F, Perrone RD, Steinman TI, Peters DJM, Gitomer BY, Watnick TJ, Coto E, Chebib FT, Hogan MC, Olson JE, Larson NB, Ars E, Halbritter J, Demoulin N, Torres VE, Sayer JA, Cornec-Le Gall E, Harris PC; Genomics England Research Consortium, UK Biobank, HALT PKD, DIPAK, TAME PKD, Genkyst studies, Mayo Clinic Biobank, and Regeneron Genetics Center. Jawaid T, et al. J Am Soc Nephrol. 2025 Jun 1;36(6):1056-1071. doi: 10.1681/ASN.0000000613. Epub 2025 Feb 3. J Am Soc Nephrol. 2025. PMID: 39899384
Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140.
Zagorec N, Calamel A, Delaporte M, Olinger E, Orr S, Sayer JA, Pillay VG, Denommé-Pichon AS, Tran Mau-Them F, Nambot S, Faivre L, Ars E, Torra R, Ong ACM, Devuyst O, Perico N, Després AM, Lemoine H, de Fallois J, Brousse R, Hummel A, Knebelmann B, Maisonneuve N, Halbritter J, Le Meur Y, Audrézet MP, Cornec-Le Gall E; Genomics England Research Consortium, CYSTic Consortium, and Genkyst Study Group. Zagorec N, et al. Am J Kidney Dis. 2025 Apr;85(4):465-476.e1. doi: 10.1053/j.ajkd.2024.10.009. Epub 2024 Dec 26. Am J Kidney Dis. 2025. PMID: 39732359 Free article.
[Symptomatic treatment of nephrotic syndrome].
Clèdes J, Perrichot R, Hanrotel-Saliou C. Clèdes J, et al. Among authors: perrichot r. Presse Med. 2000 Mar 4;29(8):430-8. Presse Med. 2000. PMID: 10738512 Review. French.
Kidney transplantation in patients with Fabry disease.
Cybulla M, Walter KN, Schwarting A, Divito R, Feriozzi S, Sunder-Plassmann G; European FOS Investigators Group. Cybulla M, et al. Transpl Int. 2009 Apr;22(4):475-81. doi: 10.1111/j.1432-2277.2008.00824.x. Epub 2009 Jan 22. Transpl Int. 2009. PMID: 19207191 Free article.
Azathioprine or methotrexate maintenance for ANCA-associated vasculitis.
Pagnoux C, Mahr A, Hamidou MA, Boffa JJ, Ruivard M, Ducroix JP, Kyndt X, Lifermann F, Papo T, Lambert M, Le Noach J, Khellaf M, Merrien D, Puéchal X, Vinzio S, Cohen P, Mouthon L, Cordier JF, Guillevin L; French Vasculitis Study Group. Pagnoux C, et al. N Engl J Med. 2008 Dec 25;359(26):2790-803. doi: 10.1056/NEJMoa0802311. N Engl J Med. 2008. PMID: 19109574 Free article. Clinical Trial.
Diagnosis and risk factors for intracranial aneurysms in autosomal polycystic kidney disease: a cross-sectional study from the Genkyst cohort.
Lefèvre S, Audrézet MP, Halimi JM, Longuet H, Bridoux F, Ecotière L, Augusto JF, Duveau A, Renaudineau E, Vigneau C, Frouget T, Charasse C, Gueguen L, Perrichot R, Couvrat G, Seret G, Le Meur Y, Cornec-Le Gall E; Genkyst Study Group. Lefèvre S, et al. Among authors: perrichot r. Nephrol Dial Transplant. 2022 Oct 19;37(11):2223-2233. doi: 10.1093/ndt/gfac027. Nephrol Dial Transplant. 2022. PMID: 35108395 Free article.
Novel mutations in the duplicated region of PKD1 gene.
Perrichot R, Mercier B, Quere I, Carre A, Simon P, Whebe B, Cledes J, Ferec C. Perrichot R, et al. Eur J Hum Genet. 2000 May;8(5):353-9. doi: 10.1038/sj.ejhg.5200459. Eur J Hum Genet. 2000. PMID: 10854095
Lysosphingolipid Quantitation in Plasma and Dried-Blood Spots Using Targeted High-Resolution Mass Spectrometry.
Ducatez F, Mauhin W, Ottaviani J, Plichet T, Pilon C, Lidove O, Barbey F, Perrichot R, Vergnaud S, Berger MG, Berger J, Belmatoug N, Nadjar Y, Lamari F, Noel E, Marret S, Bekri S, Tebani A. Ducatez F, et al. Among authors: perrichot r. J Clin Lab Anal. 2025 Jan;39(1):e25131. doi: 10.1002/jcla.25131. Epub 2024 Dec 27. J Clin Lab Anal. 2025. PMID: 39727194 Free PMC article.
21 results