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Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.
Bonatti F, Adorni A, Matichecchia A, Mozzoni P, Uliana V, Pisani F, Garavelli L, Graziano C, Gnoli M, Carli D, Bigoni S, Boschi E, Martorana D, Percesepe A. Bonatti F, et al. Among authors: percesepe a. Int J Mol Sci. 2017 Sep 29;18(10):2071. doi: 10.3390/ijms18102071. Int J Mol Sci. 2017. PMID: 28961165 Free PMC article.
Cortical malformations and COL4A1 mutation: Three new cases.
Vitale G, Pichiecchio A, Ormitti F, Tonduti D, Asaro A, Farina L, Piccolo B, Percesepe A, Bastianello S, Orcesi S; COL4A1 International Study Group. Vitale G, et al. Among authors: percesepe a. Eur J Paediatr Neurol. 2019 May;23(3):410-417. doi: 10.1016/j.ejpn.2019.02.006. Epub 2019 Feb 22. Eur J Paediatr Neurol. 2019. PMID: 30837194
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
Riva M, Martorana D, Uliana V, Caleffi E, Boschi E, Garavelli L, Ponti G, Sangiorgi L, Graziano C, Bigoni S, Rocchetti LM, Madeo S, Soli F, Grosso E, Carli D, Goldoni M, Pisani F, Percesepe A. Riva M, et al. Among authors: percesepe a. Genes Chromosomes Cancer. 2022 Jan;61(1):10-21. doi: 10.1002/gcc.22997. Epub 2021 Sep 3. Genes Chromosomes Cancer. 2022. PMID: 34427956 Free PMC article.
Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.
Dell'Elice A, Cini G, Fornasarig M, Armelao F, Barana D, Bianchi F, Casalis Cavalchini GC, Maffè A, Mammi I, Pedroni M, Percesepe A, Sorrentini I, Tibiletti M, Maestro R, Quaia M, Viel A. Dell'Elice A, et al. Among authors: percesepe a. Mol Genet Genomic Med. 2021 Dec;9(12):e1831. doi: 10.1002/mgg3.1831. Epub 2021 Oct 26. Mol Genet Genomic Med. 2021. PMID: 34704405 Free PMC article.
Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis.
Caramaschi E, Stanghellini I, Magini P, Giuffrida MG, Scullin S, Giuva T, Bergonzini P, Guerra A, Paolucci P, Percesepe A. Caramaschi E, et al. Among authors: percesepe a. Ital J Pediatr. 2014 Apr 28;40:39. doi: 10.1186/1824-7288-40-39. Ital J Pediatr. 2014. PMID: 24775911 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: percesepe 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.
130 results