Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

44 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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.
Consensus document on autosomal dominant polycystic kindey disease from the Spanish Working Group on Inherited Kindey Diseases. Review 2020.
Ars E, Bernis C, Fraga G, Furlano M, Martínez V, Martins J, Ortiz A, Pérez-Gómez MV, Rodríguez-Pérez JC, Sans L, Torra R; en nombre del grupo de trabajo de Enfermedades Renales Hereditarias de la Sociedad Española de Nefrología. Ars E, et al. Among authors: furlano m. Nefrologia (Engl Ed). 2022 Jul-Aug;42(4):367-389. doi: 10.1016/j.nefroe.2022.11.011. Epub 2022 Nov 17. Nefrologia (Engl Ed). 2022. PMID: 36404270 Free article.
Artificial intelligence: a new field of knowledge for nephrologists?
Fayos De Arizón L, Viera ER, Pilco M, Perera A, De Maeztu G, Nicolau A, Furlano M, Torra R. Fayos De Arizón L, et al. Among authors: furlano m. Clin Kidney J. 2023 Jul 29;16(12):2314-2326. doi: 10.1093/ckj/sfad182. eCollection 2023 Dec. Clin Kidney J. 2023. PMID: 38046016 Free PMC article.
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.
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
Lovric S, Goncalves S, Gee HY, Oskouian B, Srinivas H, Choi WI, Shril S, Ashraf S, Tan W, Rao J, Airik M, Schapiro D, Braun DA, Sadowski CE, Widmeier E, Jobst-Schwan T, Schmidt JM, Girik V, Capitani G, Suh JH, Lachaussée N, Arrondel C, Patat J, Gribouval O, Furlano M, Boyer O, Schmitt A, Vuiblet V, Hashmi S, Wilcken R, Bernier FP, Innes AM, Parboosingh JS, Lamont RE, Midgley JP, Wright N, Majewski J, Zenker M, Schaefer F, Kuss N, Greil J, Giese T, Schwarz K, Catheline V, Schanze D, Franke I, Sznajer Y, Truant AS, Adams B, Désir J, Biemann R, Pei Y, Ars E, Lloberas N, Madrid A, Dharnidharka VR, Connolly AM, Willing MC, Cooper MA, Lifton RP, Simons M, Riezman H, Antignac C, Saba JD, Hildebrandt F. Lovric S, et al. Among authors: furlano m. J Clin Invest. 2017 Mar 1;127(3):912-928. doi: 10.1172/JCI89626. Epub 2017 Feb 6. J Clin Invest. 2017. PMID: 28165339 Free PMC article.
ADPedKD: A Global Online Platform on the Management of Children With ADPKD.
De Rechter S, Bockenhauer D, Guay-Woodford LM, Liu I, Mallett AJ, Soliman NA, Sylvestre LC, Schaefer F, Liebau MC, Mekahli D; ADPedKD Consortium. De Rechter S, et al. Kidney Int Rep. 2019 May 29;4(9):1271-1284. doi: 10.1016/j.ekir.2019.05.015. eCollection 2019 Sep. Kidney Int Rep. 2019. PMID: 31517146 Free PMC 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.
44 results