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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.
Novel Sources of Biodiversity and Biomolecules from Bacteria Isolated from a High Middle Ages Soil Sample in Palermo (Sicily, Italy).
Vassallo A, Modi A, Quagliariello A, Bacci G, Faddetta T, Gallo M, Provenzano A, La Barbera A, Lombardo G, Maggini V, Firenzuoli F, Zaccaroni M, Gallo G, Caramelli D, Aleo Nero C, Baldi F, Fani R, Palumbo Piccionello A, Pucciarelli S, Puglia AM, Sineo L. Vassallo A, et al. Among authors: provenzano a. Microbiol Spectr. 2023 Jun 15;11(3):e0437422. doi: 10.1128/spectrum.04374-22. Epub 2023 Apr 18. Microbiol Spectr. 2023. PMID: 37071008 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. Among authors: provenzano a. 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.
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.
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.
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