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Page 1
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: tiberi l. Sci Rep. 2024 Jul 4;14(1):15454. doi: 10.1038/s41598-024-66326-0. Sci Rep. 2024. PMID: 38965328 Free PMC article.
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Provenzano A, La Barbera A, Scagnet M, Pagliazzi A, Traficante G, Pantaleo M, Tiberi L, Vergani D, Kurtas NE, Guarducci S, Bargiacchi S, Forzano G, Artuso R, Palazzo V, Kura A, Giordano F, di Feo D, Mortilla M, De Filippi C, Mattei G, Garavelli L, Giusti B, Genitori L, Zuffardi O, Giglio S. Provenzano A, et al. Among authors: tiberi l. Hum Genet. 2021 Apr;140(4):625-647. doi: 10.1007/s00439-020-02231-6. Epub 2020 Dec 18. Hum Genet. 2021. PMID: 33337535 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: tiberi l. Int J Mol Sci. 2022 May 18;23(10):5641. doi: 10.3390/ijms23105641. Int J Mol Sci. 2022. PMID: 35628451 Free PMC article.
PIEZO1 mutations impact on early clinical manifestations of myelodysplastic syndromes.
Attardi E, Andolfo I, Russo R, Tiberi L, Raddi MG, Rosato BE, Marra R, Formicola D, Del Giudice F, Brogi A, Consagra A, Amato C, Sanna A, Artuso R, Iolascon A, Santini V. Attardi E, et al. Among authors: tiberi l. Am J Hematol. 2023 Apr;98(4):E72-E75. doi: 10.1002/ajh.26863. Epub 2023 Feb 14. Am J Hematol. 2023. PMID: 36695705 Free article. No abstract available.
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: tiberi l. 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.
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature.
Barbato A, Gori G, Sacchini M, Pochiero F, Bargiacchi S, Traficante G, Palazzo V, Tiberi L, Bianchini C, Mei D, Parrini E, Pisano T, Procopio E, Guerrini R, Peron A, Stagi S. Barbato A, et al. Among authors: tiberi l. Endocr Connect. 2024 Sep 28;13(10):e240221. doi: 10.1530/EC-24-0221. Print 2024 Oct 1. Endocr Connect. 2024. PMID: 39214134 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: tiberi l. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26. Science. 2024. PMID: 38662826 Free PMC article.
49 results