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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. 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.
Genome-wide copy number analysis in pediatric glioblastoma multiforme.
Giunti L, Pantaleo M, Sardi I, Provenzano A, Magi A, Cardellicchio S, Castiglione F, Tattini L, Novara F, Buccoliero AM, de Martino M, Genitori L, Zuffardi O, Giglio S. Giunti L, et al. Among authors: provenzano a. Am J Cancer Res. 2014 May 26;4(3):293-303. eCollection 2014. Am J Cancer Res. 2014. PMID: 24959384 Free PMC article.
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression.
Giglio S, Provenzano A, Mazzinghi B, Becherucci F, Giunti L, Sansavini G, Ravaglia F, Roperto RM, Farsetti S, Benetti E, Rotondi M, Murer L, Lazzeri E, Lasagni L, Materassi M, Romagnani P. Giglio S, et al. Among authors: provenzano a. J Am Soc Nephrol. 2015 Jan;26(1):230-6. doi: 10.1681/ASN.2013111155. Epub 2014 Jul 24. J Am Soc Nephrol. 2015. PMID: 25060053 Free PMC article.
Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis.
Romagnani P, Giglio S, Angelotti ML, Provenzano A, Becherucci F, Mazzinghi B, Müller S, Amann K, Weidenbusch M, Romoli S, Lazzeri E, Anders HJ. Romagnani P, et al. Among authors: provenzano a. Nephrol Dial Transplant. 2016 Sep;31(9):1541-5. doi: 10.1093/ndt/gfw234. Epub 2016 Jun 19. Nephrol Dial Transplant. 2016. PMID: 27325253
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
Palazzo V, Provenzano A, Becherucci F, Sansavini G, Mazzinghi B, Orlandini V, Giunti L, Roperto RM, Pantaleo M, Artuso R, Andreucci E, Bargiacchi S, Traficante G, Stagi S, Murer L, Benetti E, Emma F, Giordano M, Rivieri F, Colussi G, Penco S, Manfredini E, Caruso MR, Garavelli L, Andrulli S, Vergine G, Miglietti N, Mancini E, Malaventura C, Percesepe A, Grosso E, Materassi M, Romagnani P, Giglio S. Palazzo V, et al. Among authors: provenzano a. Kidney Int. 2017 May;91(5):1243-1255. doi: 10.1016/j.kint.2016.12.017. Epub 2017 Feb 21. Kidney Int. 2017. PMID: 28233610 Free article.
92 results