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Page 1
Guidelines for Genetic Testing and Management of Alport Syndrome.
Savige J, Lipska-Zietkiewicz BS, Watson E, Hertz JM, Deltas C, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Renieri A, Storey H, Flinter F. Savige J, et al. Among authors: palazzo v. Clin J Am Soc Nephrol. 2022 Jan;17(1):143-154. doi: 10.2215/CJN.04230321. Epub 2021 Dec 20. Clin J Am Soc Nephrol. 2022. PMID: 34930753 Free PMC article.
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P. Dodd DO, et al. Among authors: palazzo v. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26. Science. 2024. PMID: 38662826 Free PMC article.
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Lipska-Ziętkiewicz BS. Savige J, et al. Among authors: palazzo v. Eur J Hum Genet. 2021 Aug;29(8):1186-1197. doi: 10.1038/s41431-021-00858-1. Epub 2021 Apr 15. Eur J Hum Genet. 2021. PMID: 33854215 Free PMC article.
The sac evolution imaging follow-up after endovascular aortic repair: An international expert opinion-based Delphi consensus study.
Tinelli G, D'Oria M, Sica S, Mani K, Rancic Z, Resch TA, Beccia F, Azizzadeh A, Da Volta Ferreira MM, Gargiulo M, Lepidi S, Tshomba Y, Oderich GS, Haulon S; SLIM F-U EVAR, Collaborative Study Group. Tinelli G, et al. J Vasc Surg. 2024 Sep;80(3):937-945. doi: 10.1016/j.jvs.2024.03.007. Epub 2024 Mar 8. J Vasc Surg. 2024. PMID: 38462062 Free article.
Anti-slit diaphragm antibodies on kidney biopsy identify pediatric patients with steroid-resistant nephrotic syndrome responsive to second-line immunosuppressants.
Raglianti V, Angelotti ML, Cirillo L, Ravaglia F, Landini S, Palazzo V, Melica ME, Antonelli G, Conte C, Buti E, Errichiello C, De Chiara L, Peired AJ, Lasagni L, Buccoliero AM, Allinovi M, Montero AM, Cruzado JM, Bruschi M, Ghiggeri GM, Angeletti A, Anders HJ, Lazzeri E, Mazzinghi B, Becherucci F, Romagnani P. Raglianti V, et al. Among authors: palazzo v. Kidney Int. 2024 Dec;106(6):1124-1134. doi: 10.1016/j.kint.2024.09.006. Epub 2024 Oct 3. Kidney Int. 2024. PMID: 39368741 Free article.
Symptom Burden before and after Dialysis Initiation in Older Patients.
de Rooij ENM, Meuleman Y, de Fijter JW, Jager KJ, Chesnaye NC, Evans M, Caskey FJ, Torino C, Porto G, Szymczak M, Drechsler C, Wanner C, Dekker FW, Hoogeveen EK; EQUAL study investigators. de Rooij ENM, et al. Clin J Am Soc Nephrol. 2022 Dec;17(12):1719-1729. doi: 10.2215/CJN.09190822. Epub 2022 Nov 10. Clin J Am Soc Nephrol. 2022. PMID: 36357126 Free PMC article.
A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases.
Becherucci F, Landini S, Palazzo V, Cirillo L, Raglianti V, Lugli G, Tiberi L, Dirupo E, Bellelli S, Mazzierli T, Lomi J, Ravaglia F, Sansavini G, Allinovi M, Giannese D, Somma C, Spatoliatore G, Vergani D, Artuso R, Rosati A, Cirami C, Dattolo PC, Campolo G, De Chiara L, Papi L, Vaglio A, Lazzeri E, Anders HJ, Mazzinghi B, Romagnani P. Becherucci F, et al. Among authors: palazzo v. J Am Soc Nephrol. 2023 Apr 1;34(4):706-720. doi: 10.1681/ASN.0000000000000076. Epub 2023 Jan 17. J Am Soc Nephrol. 2023. PMID: 36753701 Free PMC article.
More dissimilarities than affinities between DNAJB11-PKD and ADPKD.
Pisani I, Allinovi M, Palazzo V, Zanelli P, Gentile M, Farina MT, Giuliotti S, Cravedi P, Delsante M, Maggiore U, Fiaccadori E, Manenti L. Pisani I, et al. Among authors: palazzo v. Clin Kidney J. 2022 Jan 31;15(6):1179-1187. doi: 10.1093/ckj/sfac032. eCollection 2022 Jun. Clin Kidney J. 2022. PMID: 35664268 Free PMC article.
59 results