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

Year Number of Results
1991 1
1992 1
1994 1
1996 2
1999 1
2000 1
2001 1
2002 4
2003 1
2004 3
2005 4
2006 6
2007 5
2008 7
2009 15
2010 13
2011 13
2012 12
2013 11
2014 8
2015 11
2016 6
2017 12
2018 10
2019 17
2020 16
2021 17
2022 13
2023 17
2024 7

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205 results

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Page 1
Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1.
Garrelfs SF, Frishberg Y, Hulton SA, Koren MJ, O'Riordan WD, Cochat P, Deschênes G, Shasha-Lavsky H, Saland JM, Van't Hoff WG, Fuster DG, Magen D, Moochhala SH, Schalk G, Simkova E, Groothoff JW, Sas DJ, Meliambro KA, Lu J, Sweetser MT, Garg PP, Vaishnaw AK, Gansner JM, McGregor TL, Lieske JC; ILLUMINATE-A Collaborators. Garrelfs SF, et al. N Engl J Med. 2021 Apr 1;384(13):1216-1226. doi: 10.1056/NEJMoa2021712. N Engl J Med. 2021. PMID: 33789010 Clinical Trial.
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: ranchin b. 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.
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K; ESCAPE Study group; GPN study group; Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. Burgmaier K, et al. Among authors: ranchin b. Kidney Int. 2021 Sep;100(3):650-659. doi: 10.1016/j.kint.2021.04.019. Epub 2021 Apr 30. Kidney Int. 2021. PMID: 33940108
[Renal abnormalities in Down syndrome: A review].
Niamien-Attai C, Bacchetta J, Ranchin B, Sanlaville D, Cochat P. Niamien-Attai C, et al. Among authors: ranchin b. Arch Pediatr. 2017 Oct;24(10):1013-1018. doi: 10.1016/j.arcped.2017.07.014. Arch Pediatr. 2017. PMID: 28893484 Review. French.
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group. Petzold F, et al. Kidney Int. 2023 Aug;104(2):378-387. doi: 10.1016/j.kint.2023.05.007. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230223 Free article.
Phase 1/2 Study of Lumasiran for Treatment of Primary Hyperoxaluria Type 1: A Placebo-Controlled Randomized Clinical Trial.
Frishberg Y, Deschênes G, Groothoff JW, Hulton SA, Magen D, Harambat J, Van't Hoff WG, Lorch U, Milliner DS, Lieske JC, Haslett P, Garg PP, Vaishnaw AK, Talamudupula S, Lu J, Habtemariam BA, Erbe DV, McGregor TL, Cochat P; study collaborators. Frishberg Y, et al. Clin J Am Soc Nephrol. 2021 Jul;16(7):1025-1036. doi: 10.2215/CJN.14730920. Epub 2021 May 13. Clin J Am Soc Nephrol. 2021. PMID: 33985991 Free PMC article. Clinical Trial.
Urinary DKK3 as a biomarker for short-term kidney function decline in children with chronic kidney disease: an observational cohort study.
Speer T, Schunk SJ, Sarakpi T, Schmit D, Wagner M, Arnold L, Zewinger S, Azukaitis K, Bayazit A, Obrycki L, Kaplan Bulut I, Duzova A, Doyon A, Ranchin B, Caliskan S, Harambat J, Yilmaz A, Alpay H, Lugani F, Balat A, Arbeiter K, Longo G, Melk A, Querfeld U, Wühl E, Mehls O, Fliser D, Schaefer F; 4C Study Investigators, ESCAPE Trial Investigators. Speer T, et al. Among authors: ranchin b. Lancet Child Adolesc Health. 2023 Jun;7(6):405-414. doi: 10.1016/S2352-4642(23)00049-4. Epub 2023 Apr 26. Lancet Child Adolesc Health. 2023. PMID: 37119829 Clinical Trial.
Phase 3 trial of lumasiran for primary hyperoxaluria type 1: A new RNAi therapeutic in infants and young children.
Sas DJ, Magen D, Hayes W, Shasha-Lavsky H, Michael M, Schulte I, Sellier-Leclerc AL, Lu J, Seddighzadeh A, Habtemariam B, McGregor TL, Fujita KP, Frishberg Y; ILLUMINATE-B Workgroup. Sas DJ, et al. Genet Med. 2022 Mar;24(3):654-662. doi: 10.1016/j.gim.2021.10.024. Epub 2021 Dec 8. Genet Med. 2022. PMID: 34906487 Free article. Clinical Trial.
205 results