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53 results

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Page 1
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group. Petzold F, et al. Kidney Int. 2023 Aug;104(2):378-387. doi: 10.1016/j.kint.2023.05.007. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230223 Free article.
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.
Buffin-Meyer B, Richard J, Guigonis V, Weber S, König J, Heidet L, Moussaoui N, Vu JP, Faguer S, Casemayou A, Prakash R, Baudouin V, Hogan J, Alexandrou D, Bockenhauer D, Bacchetta J, Ranchin B, Pruhova S, Zieg J, Lahoche A, Okorn C, Antal-Kónya V, Morin D, Becherucci F, Habbig S, Liebau MC, Mauras M, Nijenhuis T, Llanas B, Mekahli D, Thumfart J, Tönshoff B, Massella L, Eckart P, Cloarec S, Cruz A, Patzer L, Roussey G, Vrillon I, Dunand O, Bessenay L, Taroni F, Zaniew M, Louillet F, Bergmann C, Schaefer F, van Eerde AM, Schanstra JP, Decramer S; HNF1B variant study group. Buffin-Meyer B, et al. Among authors: roussey g. Kidney Int Rep. 2024 May 16;9(8):2514-2526. doi: 10.1016/j.ekir.2024.05.007. eCollection 2024 Aug. Kidney Int Rep. 2024. PMID: 39156164 Free PMC article.
Functional Characterization of Anti-C3bBb Autoantibodies and C3 Glomerulopathy Phenotype.
Roquigny J, Meuleman MS, El Sissy C, Cailliez M, Servais A, Roussey G, Baudouin V, Decramer S, Nobili F, Wynckel A, Sellier Leclerc AL, Lapeyraque AL, Martins PV, Meri S, Dragon-Durey MA, Chauvet S, Frémeaux-Bacchi V. Roquigny J, et al. Among authors: roussey g. J Am Soc Nephrol. 2024 Sep 26. doi: 10.1681/ASN.0000000000000499. Online ahead of print. J Am Soc Nephrol. 2024. PMID: 39325562 No abstract available.
Fatal thrombotic microangiopathy case following adeno-associated viral SMN gene therapy.
Guillou J, de Pellegars A, Porcheret F, Frémeaux-Bacchi V, Allain-Launay E, Debord C, Denis M, Péréon Y, Barnérias C, Desguerre I, Roussey G, Mercier S. Guillou J, et al. Among authors: roussey g. Blood Adv. 2022 Jul 26;6(14):4266-4270. doi: 10.1182/bloodadvances.2021006419. Blood Adv. 2022. PMID: 35584395 Free PMC article.
Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis.
Louis-Dit-Picard H, Kouranti I, Rafael C, Loisel-Ferreira I, Chavez-Canales M, Abdel-Khalek W, Argaiz ER, Baron S, Vacle S, Migeon T, Coleman R, Do Cruzeiro M, Hureaux M, Thurairajasingam N, Decramer S, Girerd X, O'Shaugnessy K, Mulatero P, Roussey G, Tack I, Unwin R, Vargas-Poussou R, Staub O, Grimm R, Welling PA, Gamba G, Clauser E, Hadchouel J, Jeunemaitre X. Louis-Dit-Picard H, et al. Among authors: roussey g. J Clin Invest. 2020 Dec 1;130(12):6379-6394. doi: 10.1172/JCI94171. J Clin Invest. 2020. PMID: 32790646 Free PMC article.
Treatment and outcome of congenital nephrotic syndrome.
Bérody S, Heidet L, Gribouval O, Harambat J, Niaudet P, Baudouin V, Bacchetta J, Boudaillez B, Dehennault M, de Parscau L, Dunand O, Flodrops H, Fila M, Garnier A, Louillet F, Macher MA, May A, Merieau E, Monceaux F, Pietrement C, Rousset-Rouvière C, Roussey G, Taque S, Tenenbaum J, Ulinski T, Vieux R, Zaloszyc A, Morinière V, Salomon R, Boyer O. Bérody S, et al. Among authors: roussey g. Nephrol Dial Transplant. 2019 Mar 1;34(3):458-467. doi: 10.1093/ndt/gfy015. Nephrol Dial Transplant. 2019. PMID: 29474669
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
Burda P, Kuster A, Hjalmarson O, Suormala T, Bürer C, Lutz S, Roussey G, Christa L, Asin-Cayuela J, Kollberg G, Andersson BA, Watkins D, Rosenblatt DS, Fowler B, Holme E, Froese DS, Baumgartner MR. Burda P, et al. Among authors: roussey g. J Inherit Metab Dis. 2015 Sep;38(5):863-72. doi: 10.1007/s10545-015-9810-3. Epub 2015 Jan 30. J Inherit Metab Dis. 2015. PMID: 25633902 Free article. Review.
[Vaccine recommendations for children with idiopathic nephrotic syndrome].
Boyer O, Baudouin V, Bérard É, Biebuyck-Gougé N, Dossier C, Guigonis V, Audard V, Klifa R, Leroy V, Ranchin B, Roussey G, Samaille C, Tellier S, Vrillon I. Boyer O, et al. Among authors: roussey g. Nephrol Ther. 2020 May;16(3):177-183. doi: 10.1016/j.nephro.2019.09.007. Epub 2020 Apr 8. Nephrol Ther. 2020. PMID: 32278737 French.
53 results