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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. 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.
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: al rabadi l. 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.
Serine Protease HTRA1 as a Novel Target Antigen in Primary Membranous Nephropathy.
Al-Rabadi LF, Caza T, Trivin-Avillach C, Rodan AR, Andeen N, Hayashi N, Williams B, Revelo MP, Clayton F, Abraham J, Lin E, Liou W, Zou CJ, Ramkumar N, Cummins T, Wilkey DW, Kawalit I, Herzog C, Storey A, Edmondson R, Sjoberg R, Yang T, Chien J, Merchant M, Arthur J, Klein J, Larsen C, Beck LH Jr. Al-Rabadi LF, et al. J Am Soc Nephrol. 2021 Jul;32(7):1666-1681. doi: 10.1681/ASN.2020101395. Epub 2021 May 5. J Am Soc Nephrol. 2021. PMID: 33952630 Free PMC article.
A multi-center retrospective cohort study defines the spectrum of kidney pathology in Coronavirus 2019 Disease (COVID-19).
May RM, Cassol C, Hannoudi A, Larsen CP, Lerma EV, Haun RS, Braga JR, Hassen SI, Wilson J, VanBeek C, Vankalakunti M, Barnum L, Walker PD, Bourne TD, Messias NC, Ambruzs JM, Boils CL, Sharma SS, Cossey LN, Baxi PV, Palmer M, Zuckerman JE, Walavalkar V, Urisman A, Gallan AJ, Al-Rabadi LF, Rodby R, Luyckx V, Espino G, Santhana-Krishnan S, Alper B, Lam SG, Hannoudi GN, Matthew D, Belz M, Singer G, Kunaparaju S, Price D, Chawla S, Rondla C, Abdalla MA, Britton ML, Paul S, Ranjit U, Bichu P, Williamson SR, Sharma Y, Gaspert A, Grosse P, Meyer I, Vasudev B, El Kassem M, Velez JCQ, Caza TN. May RM, et al. Kidney Int. 2021 Dec;100(6):1303-1315. doi: 10.1016/j.kint.2021.07.015. Epub 2021 Aug 3. Kidney Int. 2021. PMID: 34352311 Free PMC article.
Acquired Reactive Perforating Collagenosis.
Singhania N, Singhania G, Al-Rabadi L. Singhania N, et al. Clin Exp Nephrol. 2020 Nov;24(11):1086-1087. doi: 10.1007/s10157-020-01929-1. Epub 2020 Jul 14. Clin Exp Nephrol. 2020. PMID: 32666346 No abstract available.
34 results