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Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights.
Bacci GM, Marziali E, Bargiacchi S, Paques M, Virgili G, Fortunato P, Durand M, Rocca C, Pagliazzi A, Palazzo V, Tiberi L, Vergani D, Landini S, Peron A, Artuso R, Pacini B, Stabile M, Sodi A, Caputo R. Bacci GM, et al. Among authors: landini s. Sci Rep. 2024 Jul 4;14(1):15454. doi: 10.1038/s41598-024-66326-0. Sci Rep. 2024. PMID: 38965328 Free PMC article.
Reverse Phenotyping after Whole-Exome Sequencing in Steroid-Resistant Nephrotic Syndrome.
Landini S, Mazzinghi B, Becherucci F, Allinovi M, Provenzano A, Palazzo V, Ravaglia F, Artuso R, Bosi E, Stagi S, Sansavini G, Guzzi F, Cirillo L, Vaglio A, Murer L, Peruzzi L, Pasini A, Materassi M, Roperto RM, Anders HJ, Rotondi M, Giglio SR, Romagnani P. Landini S, et al. Clin J Am Soc Nephrol. 2020 Jan 7;15(1):89-100. doi: 10.2215/CJN.06060519. Epub 2019 Dec 12. Clin J Am Soc Nephrol. 2020. PMID: 31831576 Free PMC article.
Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.
Palazzo V, Raglianti V, Landini S, Cirillo L, Errichiello C, Buti E, Artuso R, Tiberi L, Vergani D, Dirupo E, Romagnani P, Mazzinghi B, Becherucci F. Palazzo V, et al. Among authors: landini s. Int J Mol Sci. 2022 May 18;23(10):5641. doi: 10.3390/ijms23105641. Int J Mol Sci. 2022. PMID: 35628451 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: landini s. 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.
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: landini s. 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.
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: landini s. 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: landini s. 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.
Correction: 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: landini s. Eur J Hum Genet. 2024 Jan;32(1):132. doi: 10.1038/s41431-023-01288-x. Eur J Hum Genet. 2024. PMID: 36721056 Free PMC article. No abstract available.
87 results