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Year Number of Results
2013 1
2014 1
2016 1
2017 5
2018 4
2019 4
2020 5
2021 7
2022 8
2023 6
2024 3

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37 results

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Page 1
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
Domingo-Gallego A, Pybus M, Bullich G, Furlano M, Ejarque-Vila L, Lorente-Grandoso L, Ruiz P, Fraga G, López González M, Piñero-Fernández JA, Rodríguez-Peña L, Llano-Rivas I, Sáez R, Bujons-Tur A, Ariceta G, Guirado L, Torra R, Ars E. Domingo-Gallego A, et al. Among authors: furlano m. Nephrol Dial Transplant. 2022 Mar 25;37(4):687-696. doi: 10.1093/ndt/gfab019. Nephrol Dial Transplant. 2022. PMID: 33532864
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F. Braun DA, et al. Among authors: furlano m. Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14. Nat Genet. 2017. PMID: 28805828 Free PMC article.
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R. Furlano M, et al. Am J Kidney Dis. 2021 Oct;78(4):560-570.e1. doi: 10.1053/j.ajkd.2021.02.326. Epub 2021 Apr 7. Am J Kidney Dis. 2021. PMID: 33838161 Free article.
MYH9 Associated nephropathy.
Furlano M, Arlandis R, Venegas MDP, Novelli S, Crespi J, Bullich G, Ayasreh N, Remacha Á, Ruiz P, Lorente L, Ballarín J, Matamala A, Ars E, Torra R. Furlano M, et al. Nefrologia (Engl Ed). 2019 Mar-Apr;39(2):133-140. doi: 10.1016/j.nefro.2018.08.008. Epub 2018 Nov 22. Nefrologia (Engl Ed). 2019. PMID: 30471777 Free article. Review. English, Spanish.
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.
Bullich G, Domingo-Gallego A, Vargas I, Ruiz P, Lorente-Grandoso L, Furlano M, Fraga G, Madrid Á, Ariceta G, Borregán M, Piñero-Fernández JA, Rodríguez-Peña L, Ballesta-Martínez MJ, Llano-Rivas I, Meñica MA, Ballarín J, Torrents D, Torra R, Ars E. Bullich G, et al. Among authors: furlano m. Kidney Int. 2018 Aug;94(2):363-371. doi: 10.1016/j.kint.2018.02.027. Epub 2018 May 22. Kidney Int. 2018. PMID: 29801666 Free article.
New therapeutic options for Alport syndrome.
Torra R, Furlano M. Torra R, et al. Among authors: furlano m. Nephrol Dial Transplant. 2019 Aug 1;34(8):1272-1279. doi: 10.1093/ndt/gfz131. Nephrol Dial Transplant. 2019. PMID: 31190059 Review.
Kidneys also speak Spanish.
Bover J, Bosch R, Ureña P, Trinidad P, Jara A, Górriz JL, Furlano M, García-Trabanino RA, Gelpi R, Ortiz A, Restrepo CA, Sánchez-Baya M, Arana C, Goicoechea M, Coll V, Segura J, Gutiérrez O, Sánchez E, Ferreiro A, García-Maset R. Bover J, et al. Among authors: furlano m. Nefrologia (Engl Ed). 2021 Mar-Apr;41(2):224-226. doi: 10.1016/j.nefroe.2020.11.012. Epub 2021 May 28. Nefrologia (Engl Ed). 2021. PMID: 36166212 Free article. No abstract available.
Kidneys also speak Spanish.
Bover J, Bosch R, Ureña P, Trinidad P, Jara A, Górriz JL, Furlano M, García-Trabanino RA, Gelpi R, Ortiz A, Restrepo CA, Sánchez-Baya M, Arana C, Goicoechea M, Coll V, Segura J, Gutiérrez O, Sánchez E, Ferreiro A, García-Maset R. Bover J, et al. Among authors: furlano m. Nefrologia (Engl Ed). 2021 Mar-Apr;41(2):225-226. doi: 10.1016/j.nefro.2020.11.002. Epub 2020 Dec 4. Nefrologia (Engl Ed). 2021. PMID: 33288346 Free article. English, Spanish. No abstract available.
Autosomal dominant polycystic kidney disease in young adults.
Martínez V, Furlano M, Sans L, Pulido L, García R, Pérez-Gómez MV, Sánchez-Rodríguez J, Blasco M, Castro-Alonso C, Fernández-Fresnedo G, Robles NR, Valenzuela MP, Naranjo J, Martín N, Pilco M, Agraz-Pamplona I, González-Rodríguez JD, Panizo N, Fraga G, Fernández L, López MT, Dall'Anese C, Ortiz A, Torra R; participants in the REPQRAD. Martínez V, et al. Among authors: furlano m. Clin Kidney J. 2022 Nov 29;16(6):985-995. doi: 10.1093/ckj/sfac251. eCollection 2023 Jun. Clin Kidney J. 2022. PMID: 37260991 Free PMC article.
Kidneys also speak Spanish: Initiatives towards standardisation of our nephrology nomenclature.
Bover J, Bosch R, Luis Górriz J, Ureña P, Ortiz A, daSilva I, García-Trabanino RA, Hueso M, Trinidad P, Jara A, Furlano M, Gelpi R, Vila-Santandreu A, Restrepo CA, Sánchez-Baya M, Arana C, Goicoechea M, Coll V, Segura J, Gutiérrez O, Kalantar-Zadeh K, Sánchez E, Ferreiro A, García-Maset R. Bover J, et al. Among authors: furlano m. Nefrologia (Engl Ed). 2022 May-Jun;42(3):223-232. doi: 10.1016/j.nefroe.2022.09.003. Epub 2022 Sep 24. Nefrologia (Engl Ed). 2022. PMID: 36167667 Free article. No abstract available.
37 results