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Autosomal dominant polycystic kidney disease.
Cornec-Le Gall E, Alam A, Perrone RD. Cornec-Le Gall E, et al. Lancet. 2019 Mar 2;393(10174):919-935. doi: 10.1016/S0140-6736(18)32782-X. Epub 2019 Feb 25. Lancet. 2019. PMID: 30819518 Review.
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
Audrézet MP, Cornec-Le Gall E, Chen JM, Redon S, Quéré I, Creff J, Bénech C, Maestri S, Le Meur Y, Férec C. Audrézet MP, et al. Hum Mutat. 2012 Aug;33(8):1239-50. doi: 10.1002/humu.22103. Epub 2012 May 24. Hum Mutat. 2012. PMID: 22508176
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. 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.
[Autosomal dominant polycystic kidney disease: is the treatment for tomorrow?].
Cornec-Le Gall E, Le Meur Y. Cornec-Le Gall E, et al. Nephrol Ther. 2014 Nov;10(6):433-40. doi: 10.1016/j.nephro.2014.03.003. Epub 2014 Jul 30. Nephrol Ther. 2014. PMID: 25086476 Review. French.
Polycystic kidney disease: Kidney volume--a crystal ball for ADPKD prognosis?
Cornec-Le Gall E, Le Meur Y. Cornec-Le Gall E, et al. Nat Rev Nephrol. 2014 Sep;10(9):485-6. doi: 10.1038/nrneph.2014.132. Epub 2014 Aug 5. Nat Rev Nephrol. 2014. PMID: 25092148 No abstract available.
Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on.
Cornec-Le Gall E, Audrézet MP, Le Meur Y, Chen JM, Férec C. Cornec-Le Gall E, et al. Hum Mutat. 2014 Dec;35(12):1393-406. doi: 10.1002/humu.22708. Hum Mutat. 2014. PMID: 25263802 Review.
Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.
Audrézet MP, Corbiere C, Lebbah S, Morinière V, Broux F, Louillet F, Fischbach M, Zaloszyc A, Cloarec S, Merieau E, Baudouin V, Deschênes G, Roussey G, Maestri S, Visconti C, Boyer O, Abel C, Lahoche A, Randrianaivo H, Bessenay L, Mekahli D, Ouertani I, Decramer S, Ryckenwaert A, Cornec-Le Gall E, Salomon R, Ferec C, Heidet L. Audrézet MP, et al. J Am Soc Nephrol. 2016 Mar;27(3):722-9. doi: 10.1681/ASN.2014101051. Epub 2015 Jul 2. J Am Soc Nephrol. 2016. PMID: 26139440 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. 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.
Can ultrasound kidney length qualify as an early predictor of progression to renal insufficiency in autosomal dominant polycystic kidney disease?
Cornec-Le Gall E, Le Meur Y. Cornec-Le Gall E, et al. Kidney Int. 2015 Dec;88(6):1449. doi: 10.1038/ki.2015.285. Kidney Int. 2015. PMID: 26649669 No abstract available.
Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.
Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, Edwards ME, Madsen CD, Mauritz SR, Banks CJ, Baheti S, Reddy B, Herrero JI, Bañales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audrézet MP, Ferec C, Le Meur Y, Torres VE; Genkyst Study Group, HALT Progression of Polycystic Kidney Disease Group; Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease, Harris PC. Porath B, et al. Am J Hum Genet. 2016 Jun 2;98(6):1193-1207. doi: 10.1016/j.ajhg.2016.05.004. Am J Hum Genet. 2016. PMID: 27259053 Free PMC article.
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