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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: palazzo v. Sci Rep. 2024 Jul 4;14(1):15454. doi: 10.1038/s41598-024-66326-0. Sci Rep. 2024. PMID: 38965328 Free PMC article.
[A child with severe growth delay and renal cysts].
Vergine G, Ravaioli E, Palazzo V, Gambaro G, Giglio S. Vergine G, et al. Among authors: palazzo v. G Ital Nefrol. 2019 Feb;36(1):2019-vol1. G Ital Nefrol. 2019. PMID: 30758150 Italian.
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. 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.
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: palazzo v. 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.
Noninvasive prenatal diagnosis in a family at risk for Fraser syndrome.
Provenzano A, Palazzo V, Reho P, Pagliazzi A, Marozza A, Farina A, Zuffardi O, Giglio S. Provenzano A, et al. Among authors: palazzo v. Prenat Diagn. 2020 Jun;40(7):905-908. doi: 10.1002/pd.5700. Epub 2020 Apr 20. Prenat Diagn. 2020. PMID: 32277492 No abstract available.
Two-year-old girl with metabolic acidosis and hyperkalaemia.
Patti G, Palazzo V, Pagliazzi A, Confalonieri L, Di Iorgi N. Patti G, et al. Among authors: palazzo v. Arch Dis Child Educ Pract Ed. 2021 Feb;106(1):28-30. doi: 10.1136/archdischild-2019-318393. Epub 2020 May 28. Arch Dis Child Educ Pract Ed. 2021. PMID: 32467257
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: palazzo v. 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.
Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series.
Marziali E, Van Den Broeck F, Bargiacchi S, Fortunato P, Caputo R, Sodi A, De Zaeytijd J, Murro V, Mucciolo DP, Giorgio D, Passerini I, Palazzo V, Peluso F, de Baere E, Zeitz C, Leroy BP, Secci J, Bacci GM. Marziali E, et al. Among authors: palazzo v. Ophthalmic Genet. 2023 Apr;44(2):152-162. doi: 10.1080/13816810.2022.2132514. Epub 2022 Dec 5. Ophthalmic Genet. 2023. PMID: 36469668
57 results