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Reassuring pregnancy outcomes in women with mild COL4A3-5-related disease (Alport syndrome) and genetic type of disease can aid personalized counseling.
Gosselink ME, Snoek R, Cerkauskaite-Kerpauskiene A, van Bakel SPJ, Vollenberg R, Groen H, Cerkauskiene R, Miglinas M, Attini R, Tory K, Claes KJ, van Calsteren K, Servais A, de Jong MFC, Gillion V, Vogt L, Mastrangelo A, Furlano M, Torra R, Bramham K, Wiles K, Ralston ER, Hall M, Liu L, Hladunewich MA, Lely AT, van Eerde AM; ALPART working group. Gosselink ME, et al. Among authors: furlano m. Kidney Int. 2024 May;105(5):1088-1099. doi: 10.1016/j.kint.2024.01.034. Epub 2024 Feb 19. Kidney Int. 2024. PMID: 38382843 Free article.
Kidneys also speak Spanish: Initiatives towards standardisation of our nephrology nomenclature.
Bover J, Bosch R, Górriz JL, 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). 2021 Aug 24:S0211-6995(21)00157-0. doi: 10.1016/j.nefro.2021.04.011. Online ahead of print. Nefrologia (Engl Ed). 2021. PMID: 34452777 Free article. English, Spanish. 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.
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.
Role of vitamin D receptor activators in peritoneal dialysis.
Bover J, Lloret MJ, DaSilva I, Furlano M, Díaz M, Herreros A, Cozzolino M, Ballarín J. Bover J, et al. Among authors: furlano m. Contrib Nephrol. 2012;178:124-142. doi: 10.1159/000337832. Epub 2012 May 25. Contrib Nephrol. 2012. PMID: 22652728 Review.
Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1.
Ayasreh N, Bullich G, Miquel R, Furlano M, Ruiz P, Lorente L, Valero O, García-González MA, Arhda N, Garin I, Martínez V, Pérez-Gómez V, Fulladosa X, Arroyo D, Martínez-Vea A, Espinosa M, Ballarín J, Ars E, Torra R. Ayasreh N, et al. Among authors: furlano m. Am J Kidney Dis. 2018 Sep;72(3):411-418. doi: 10.1053/j.ajkd.2018.03.019. Epub 2018 May 18. Am J Kidney Dis. 2018. PMID: 29784615
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.
48 results