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The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project.
Elhassan EAE, Murray SL, Connaughton DM, Kennedy C, Cormican S, Cowhig C, Stapleton C, Little MA, Kidd K, Bleyer AJ, Živná M, Kmoch S, Fennelly NK, Doyle B, Dorman A, Griffin MD, Casserly L, Harris PC, Hildebrandt F, Cavalleri GL, Benson KA, Conlon PJ. Elhassan EAE, et al. Among authors: hildebrandt f. J Nephrol. 2022 Jul;35(6):1655-1665. doi: 10.1007/s40620-021-01236-2. Epub 2022 Jan 31. J Nephrol. 2022. PMID: 35099770 Free PMC article.
The Future of Polycystic Kidney Disease Research--As Seen By the 12 Kaplan Awardees.
Antignac C, Calvet JP, Germino GG, Grantham JJ, Guay-Woodford LM, Harris PC, Hildebrandt F, Peters DJ, Somlo S, Torres VE, Walz G, Zhou J, Yu AS. Antignac C, et al. Among authors: hildebrandt f. J Am Soc Nephrol. 2015 Sep;26(9):2081-95. doi: 10.1681/ASN.2014121192. Epub 2015 May 7. J Am Soc Nephrol. 2015. PMID: 25952256 Free PMC article.
Genetic testing in steroid-resistant nephrotic syndrome: when and how?
Lovric S, Ashraf S, Tan W, Hildebrandt F. Lovric S, et al. Among authors: hildebrandt f. Nephrol Dial Transplant. 2016 Nov;31(11):1802-1813. doi: 10.1093/ndt/gfv355. Epub 2015 Oct 27. Nephrol Dial Transplant. 2016. PMID: 26507970 Free PMC article. Review.
Genetics of Kidney Diseases.
Hildebrandt F. Hildebrandt F. Semin Nephrol. 2016 Nov;36(6):472-474. doi: 10.1016/j.semnephrol.2016.09.011. Semin Nephrol. 2016. PMID: 27987548 No abstract available.
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
van der Ven AT, Connaughton DM, Ityel H, Mann N, Nakayama M, Chen J, Vivante A, Hwang DY, Schulz J, Braun DA, Schmidt JM, Schapiro D, Schneider R, Warejko JK, Daga A, Majmundar AJ, Tan W, Jobst-Schwan T, Hermle T, Widmeier E, Ashraf S, Amar A, Hoogstraaten CA, Hugo H, Kitzler TM, Kause F, Kolvenbach CM, Dai R, Spaneas L, Amann K, Stein DR, Baum MA, Somers MJG, Rodig NM, Ferguson MA, Traum AZ, Daouk GH, Bogdanović R, Stajić N, Soliman NA, Kari JA, El Desoky S, Fathy HM, Milosevic D, Al-Saffar M, Awad HS, Eid LA, Selvin A, Senguttuvan P, Sanna-Cherchi S, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Wilson MW, Mane SM, Lifton RP, Lee RS, Bauer SB, Lu W, Reutter HM, Tasic V, Shril S, Hildebrandt F. van der Ven AT, et al. Among authors: hildebrandt f. J Am Soc Nephrol. 2018 Sep;29(9):2348-2361. doi: 10.1681/ASN.2017121265. Epub 2018 Aug 24. J Am Soc Nephrol. 2018. PMID: 30143558 Free PMC article.
Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.
Schapiro D, Daga A, Lawson JA, Majmundar AJ, Lovric S, Tan W, Warejko JK, Fessi I, Rao J, Airik M, Gee HY, Schneider R, Widmeier E, Hermle T, Ashraf S, Jobst-Schwan T, van der Ven AT, Nakayama M, Shril S, Braun DA, Hildebrandt F. Schapiro D, et al. Among authors: hildebrandt f. Nephrol Dial Transplant. 2019 Mar 1;34(3):474-485. doi: 10.1093/ndt/gfy050. Nephrol Dial Transplant. 2019. PMID: 30295827 Free PMC article.
476 results