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Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.
Jordan P, Dorval G, Arrondel C, Morinière V, Tournant C, Audrezet MP, Michel-Calemard L, Putoux A, Lesca G, Labalme A, Whalen S, Loeuillet L, Martinovic J, Attie-Bitach T, Bessières B, Schaefer E, Scheidecker S, Lambert L, Beneteau C, Patat O, Boute-Benejean O, Molin A, Guimiot F, Fontanarosa N, Nizon M, Lefebvre M, Jeanpierre C, Saunier S, Heidet L. Jordan P, et al. Among authors: audrezet mp. Hum Mutat. 2022 Mar;43(3):347-361. doi: 10.1002/humu.24324. Epub 2022 Jan 10. Hum Mutat. 2022. PMID: 35005812
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.
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, Audrezet MP, Dugueperoux I, Férec C, Lalau G, Pagin A, Kitzis A, Thoreau V, Gaston V, Bieth E, Malinge MC, Reboul MP, Fergelot P, Lemonnier L, Mekki C, Fanen P, Bergougnoux A, Sasorith S, Raynal C, Bareil C. Claustres M, et al. Among authors: audrezet mp. Hum Mutat. 2017 Oct;38(10):1297-1315. doi: 10.1002/humu.23276. Epub 2017 Jun 28. Hum Mutat. 2017. PMID: 28603918
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.
Lemoine H, Raud L, Foulquier F, Sayer JA, Lambert B, Olinger E, Lefèvre S, Knebelmann B, Harris PC, Trouvé P, Desprès A, Duneau G, Matignon M, Poyet A, Jourde-Chiche N, Guerrot D, Lemoine S, Seret G, Barroso-Gil M, Bingham C, Gilbert R; Genomics England Research Consortium; Genkyst Study Group; Le Meur Y, Audrézet MP, Cornec-Le Gall E. Lemoine H, et al. Among authors: audrezet mp. Am J Hum Genet. 2022 Aug 4;109(8):1484-1499. doi: 10.1016/j.ajhg.2022.06.013. Epub 2022 Jul 26. Am J Hum Genet. 2022. PMID: 35896117 Free PMC article.
CFTR genotypes in patients with normal or borderline sweat chloride levels.
Feldmann D, Couderc R, Audrezet MP, Ferec C, Bienvenu T, Desgeorges M, Claustres M, Mittre H, Blayau M, Bozon D, Malinge MC, Monnier N, Bonnefont JP, Iron A, Bieth E, Dumur V, Clavel C, Cazeneuve C, Girodon E. Feldmann D, et al. Among authors: audrezet mp. Hum Mutat. 2003 Oct;22(4):340. doi: 10.1002/humu.9183. Hum Mutat. 2003. PMID: 12955726
129 results