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102 results

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Page 1
Clinical and Genetic Spectrum of Bartter Syndrome Type 3.
Seys E, Andrini O, Keck M, Mansour-Hendili L, Courand PY, Simian C, Deschenes G, Kwon T, Bertholet-Thomas A, Bobrie G, Borde JS, Bourdat-Michel G, Decramer S, Cailliez M, Krug P, Cozette P, Delbet JD, Dubourg L, Chaveau D, Fila M, Jourde-Chiche N, Knebelmann B, Lavocat MP, Lemoine S, Djeddi D, Llanas B, Louillet F, Merieau E, Mileva M, Mota-Vieira L, Mousson C, Nobili F, Novo R, Roussey-Kesler G, Vrillon I, Walsh SB, Teulon J, Blanchard A, Vargas-Poussou R. Seys E, et al. Among authors: walsh sb. J Am Soc Nephrol. 2017 Aug;28(8):2540-2552. doi: 10.1681/ASN.2016101057. Epub 2017 Apr 5. J Am Soc Nephrol. 2017. PMID: 28381550 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. Among authors: walsh sb. 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.
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R. Reichold M, et al. Among authors: walsh sb. J Am Soc Nephrol. 2018 Jul;29(7):1849-1858. doi: 10.1681/ASN.2017111179. Epub 2018 Apr 13. J Am Soc Nephrol. 2018. PMID: 29654216 Free PMC 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. Among authors: walsh sb. Nephrol Dial Transplant. 2019 Jun 1;34(6):981-991. doi: 10.1093/ndt/gfy409. Nephrol Dial Transplant. 2019. PMID: 30773598
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. Among authors: walsh sb. 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.
Red Blood Cell AE1/Band 3 Transports in Dominant Distal Renal Tubular Acidosis Patients.
Bertocchio JP, Genetet S, Da Costa L, Walsh SB, Knebelmann B, Galimand J, Bessenay L, Guitton C, De Lafaille R, Vargas-Poussou R, Eladari D, Mouro-Chanteloup I. Bertocchio JP, et al. Among authors: walsh sb. Kidney Int Rep. 2020 Jan 13;5(3):348-357. doi: 10.1016/j.ekir.2019.12.020. eCollection 2020 Mar. Kidney Int Rep. 2020. PMID: 32154456 Free PMC article.
Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders.
Konrad M, Nijenhuis T, Ariceta G, Bertholet-Thomas A, Calo LA, Capasso G, Emma F, Schlingmann KP, Singh M, Trepiccione F, Walsh SB, Whitton K, Vargas-Poussou R, Bockenhauer D. Konrad M, et al. Among authors: walsh sb. Kidney Int. 2021 Feb;99(2):324-335. doi: 10.1016/j.kint.2020.10.035. Kidney Int. 2021. PMID: 33509356 Free article.
102 results