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Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
Aymé S, Bockenhauer D, Day S, Devuyst O, Guay-Woodford LM, Ingelfinger JR, Klein JB, Knoers NVAM, Perrone RD, Roberts J, Schaefer F, Torres VE, Cheung M, Wheeler DC, Winkelmayer WC; Conference Participants. Aymé S, et al. Kidney Int. 2017 Oct;92(4):796-808. doi: 10.1016/j.kint.2017.06.018. Kidney Int. 2017. PMID: 28938953 Free PMC article.
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
Ashton EJ, Legrand A, Benoit V, Roncelin I, Venisse A, Zennaro MC, Jeunemaitre X, Iancu D, Van't Hoff WG, Walsh SB, Godefroid N, Rotthier A, Del Favero J, Devuyst O, Schaefer F, Jenkins LA, Kleta R, Dahan K, Vargas-Poussou R, Bockenhauer D. Ashton EJ, et al. Kidney Int. 2018 Apr;93(4):961-967. doi: 10.1016/j.kint.2017.10.016. Epub 2018 Feb 15. Kidney Int. 2018. PMID: 29398133 Free article.
Treatment and long-term outcome in primary distal renal tubular acidosis.
Lopez-Garcia SC, Emma F, Walsh SB, Fila M, Hooman N, Zaniew M, Bertholet-Thomas A, Colussi G, Burgmaier K, Levtchenko E, Sharma J, Singhal J, Soliman NA, Ariceta G, Basu B, Murer L, Tasic V, Tsygin A, Decramer S, Gil-Peña H, Koster-Kamphuis L, La Scola C, Gellermann J, Konrad M, Lilien M, Francisco T, Tramma D, Trnka P, Yüksel S, Caruso MR, Chromek M, Ekinci Z, Gambaro G, Kari JA, König J, Taroni F, Thumfart J, Trepiccione F, Winding L, Wühl E, Ağbaş A, Belkevich A, Vargas-Poussou R, Blanchard A, Conti G, Boyer O, Dursun I, Pınarbaşı AS, Melek E, Miglinas M, Novo R, Mallett A, Milosevic D, Szczepanska M, Wente S, Cheong HI, Sinha R, Gucev Z, Dufek S, Iancu D; European dRTA Consortium; Kleta R, Schaefer F, Bockenhauer D. Lopez-Garcia SC, et al. Nephrol Dial Transplant. 2019 Jun 1;34(6):981-991. doi: 10.1093/ndt/gfy409. Nephrol Dial Transplant. 2019. PMID: 30773598
Resistance to Insulin in Patients with Gitelman Syndrome and a Subtle Intermediate Phenotype in Heterozygous Carriers: A Cross-Sectional Study.
Blanchard A, Vallet M, Dubourg L, Hureaux M, Allard J, Haymann JP, de la Faille R, Arnoux A, Dinut A, Bergerot D, Becker PH, Courand PY, Baron S, Houillier P, Tack I, Devuyst O, Jeunemaitre X, Azizi M, Vargas-Poussou R. Blanchard A, et al. J Am Soc Nephrol. 2019 Aug;30(8):1534-1545. doi: 10.1681/ASN.2019010031. Epub 2019 Jul 8. J Am Soc Nephrol. 2019. PMID: 31285285 Free PMC article.
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.
Hureaux M, Ashton E, Dahan K, Houillier P, Blanchard A, Cormier C, Koumakis E, Iancu D, Belge H, Hilbert P, Rotthier A, Del Favero J, Schaefer F, Kleta R, Bockenhauer D, Jeunemaitre X, Devuyst O, Walsh SB, Vargas-Poussou R. Hureaux M, et al. Kidney Int. 2019 Dec;96(6):1408-1416. doi: 10.1016/j.kint.2019.08.027. Epub 2019 Sep 16. Kidney Int. 2019. PMID: 31672324 Free article.
Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.
Mouly C, Vargas-Poussou R, Lienhardt A, Silve C, Hureaux M, Magdelaine C, Buffet A, Grunenwald S, Kuhn JM, Brue T, Reznik Y, Tabarin A, Martin-Coignard D, Haymann JP, Tack I, Bennet A, Caron P, Linglart A, Vezzosi D; Reference Centre for Rare Diseases of Calcium, Phosphate Metabolism. Mouly C, et al. Clin Endocrinol (Oxf). 2020 Sep;93(3):248-260. doi: 10.1111/cen.14211. Epub 2020 May 14. Clin Endocrinol (Oxf). 2020. PMID: 32347971
103 results