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Page 1
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC. Gribouval O, et al. Among authors: stone r. Hum Mutat. 2012 Feb;33(2):316-26. doi: 10.1002/humu.21661. Epub 2011 Dec 22. Hum Mutat. 2012. PMID: 22095942 Review.
Impaired proteostasis contributes to renal tubular dysgenesis.
de Oliveira RM, Marijanovic Z, Carvalho F, Miltényi GM, Matos JE, Tenreiro S, Oliveira S, Enguita FJ, Stone R, Outeiro TF. de Oliveira RM, et al. Among authors: stone r. PLoS One. 2011;6(6):e20854. doi: 10.1371/journal.pone.0020854. Epub 2011 Jun 9. PLoS One. 2011. PMID: 21695262 Free PMC article.
Mortality risk disparities in children receiving chronic renal replacement therapy for the treatment of end-stage renal disease across Europe: an ESPN-ERA/EDTA registry analysis.
Chesnaye NC, Schaefer F, Bonthuis M, Holman R, Baiko S, Baskın E, Bjerre A, Cloarec S, Cornelissen EAM, Espinosa L, Heaf J, Stone R, Shtiza D, Zagozdzon I, Harambat J, Jager KJ, Groothoff JW, van Stralen KJ; ESPN/ERA-EDTA Registry Committee. Chesnaye NC, et al. Among authors: stone r. Lancet. 2017 May 27;389(10084):2128-2137. doi: 10.1016/S0140-6736(17)30063-6. Epub 2017 Mar 20. Lancet. 2017. PMID: 28336050
Ultrasensitive ctDNA detection for preoperative disease stratification in early-stage lung adenocarcinoma.
Black JRM, Bartha G, Abbott CW, Boyle SM, Karasaki T, Li B, Chen R, Harris J, Veeriah S, Colopi M, Bakir MA, Liu WK, Lyle J, Navarro FCP, Northcott J, Pyke RM, Hill MS, Thol K, Huebner A, Bailey C, Colliver EC, Martínez-Ruiz C, Grigoriadis K, Pawlik P, Moore DA, Marinelli D, Shutkever OG, Murphy C, Sivakumar M; TRACERx consortium; Shaw JA, Hackshaw A, McGranahan N, Jamal-Hanjani M, Frankell AM, Chen RO, Swanton C. Black JRM, et al. Nat Med. 2025 Jan 13. doi: 10.1038/s41591-024-03216-y. Online ahead of print. Nat Med. 2025. PMID: 39806071
Prospective validation of ORACLE, a clonal expression biomarker associated with survival of patients with lung adenocarcinoma.
Biswas D, Liu YH, Herrero J, Wu Y, Moore DA, Karasaki T, Grigoriadis K, Lu WT, Veeriah S, Naceur-Lombardelli C, Magno N, Ward S, Frankell AM, Hill MS, Colliver E, de Carné Trécesson S, East P, Malhi A, Snell DM, O'Neill O, Leonce D, Mattsson J, Lindberg A, Micke P, Moldvay J, Megyesfalvi Z, Dome B, Fillinger J, Nicod J, Downward J, Szallasi Z; TRACERx Consortium; Hackshaw A, Jamal-Hanjani M, Kanu N, Birkbak NJ, Swanton C. Biswas D, et al. Nat Cancer. 2025 Jan 9. doi: 10.1038/s43018-024-00883-1. Online ahead of print. Nat Cancer. 2025. PMID: 39789179
3,278 results