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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1984 1
1985 3
1987 2
1988 1
1989 1
1990 4
1991 2
1992 2
1993 12
1994 3
1995 6
1996 7
1997 7
1998 13
1999 4
2000 11
2001 11
2002 17
2003 8
2004 8
2005 10
2006 7
2007 12
2008 14
2009 20
2010 18
2011 15
2012 11
2013 11
2014 22
2015 12
2016 6
2017 13
2018 13
2019 11
2020 7
2021 4
2022 7
2023 7
2024 2

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314 results

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Page 1
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaudé L, Tête MJ, Cambier A, Hogan J, Baudouin V, Krid S, Bensman A, Lammens F, Louillet F, Ranchin B, Vigneau C, Bouteau I, Isnard-Bagnis C, Mache CJ, Schäfer T, Pape L, Gödel M, Huber TB, Benz M, Klaus G, Hansen M, Latta K, Gribouval O, Morinière V, Tournant C, Grohmann M, Kuhn E, Wagner T, Bole-Feysot C, Jabot-Hanin F, Nitschké P, Ahluwalia TS, Köttgen A, Andersen CBF, Bergmann C, Antignac C, Simons M. Bedin M, et al. Among authors: antignac c. J Clin Invest. 2020 Jan 2;130(1):335-344. doi: 10.1172/JCI129937. J Clin Invest. 2020. PMID: 31613795 Free PMC article. Clinical Trial.
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes. Eckardt KU, et al. Among authors: antignac c. Kidney Int. 2015 Oct;88(4):676-83. doi: 10.1038/ki.2015.28. Epub 2015 Mar 4. Kidney Int. 2015. PMID: 25738250 Free article.
Adeno-associated virus gene therapy prevents progression of kidney disease in genetic models of nephrotic syndrome.
Ding WY, Kuzmuk V, Hunter S, Lay A, Hayes B, Beesley M, Rollason R, Hurcombe JA, Barrington F, Masson C, Cathery W, May C, Tuffin J, Roberts T, Mollet G, Chu CJ, McIntosh J, Coward RJ, Antignac C, Nathwani A, Welsh GI, Saleem MA. Ding WY, et al. Among authors: antignac c. Sci Transl Med. 2023 Aug 9;15(708):eabc8226. doi: 10.1126/scitranslmed.abc8226. Epub 2023 Aug 9. Sci Transl Med. 2023. PMID: 37556557
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: antignac c. 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.
Nephronophthisis.
Saunier S, Salomon R, Antignac C. Saunier S, et al. Among authors: antignac c. Curr Opin Genet Dev. 2005 Jun;15(3):324-31. doi: 10.1016/j.gde.2005.04.012. Curr Opin Genet Dev. 2005. PMID: 15917209 Review.
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
Sharp AM, Messiaen LM, Page G, Antignac C, Gubler MC, Onuchic LF, Somlo S, Germino GG, Guay-Woodford LM. Sharp AM, et al. Among authors: antignac c. J Med Genet. 2005 Apr;42(4):336-49. doi: 10.1136/jmg.2004.024489. J Med Genet. 2005. PMID: 15805161 Free PMC article. No abstract available.
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group; Hildebrandt F. Sadowski CE, et al. J Am Soc Nephrol. 2015 Jun;26(6):1279-89. doi: 10.1681/ASN.2014050489. Epub 2014 Oct 27. J Am Soc Nephrol. 2015. PMID: 25349199 Free PMC article.
314 results