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131 results

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Prospective assessment of NGS-detectable mutations in CML patients with nonoptimal response: the NEXT-in-CML study.
Soverini S, Bavaro L, De Benedittis C, Martelli M, Iurlo A, Orofino N, Sica S, Sorà F, Lunghi F, Ciceri F, Galimberti S, Baratè C, Bonifacio M, Scaffidi L, Castagnetti F, Gugliotta G, Albano F, Russo Rossi AV, Stagno F, di Raimondo F, D'Adda M, di Bona E, Abruzzese E, Binotto G, Sancetta R, Salvucci M, Capodanno I, Girasoli M, Coluzzi S, Attolico I, Musolino C, Calistri E, Annunziata M, Bocchia M, Stella S, Serra A, Errichiello S, Saglio G, Pane F, Vigneri P, Mignone F, Laginestra MA, Pileri SA, Percesepe A, Tenti E, Rosti G, Baccarani M, Cavo M, Martinelli G. Soverini S, et al. Among authors: percesepe a. Blood. 2020 Feb 20;135(8):534-541. doi: 10.1182/blood.2019002969. Blood. 2020. PMID: 31877211 Free article.
Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.
Grossi S, Regis S, Biancheri R, Mort M, Lualdi S, Bertini E, Uziel G, Boespflug-Tanguy O, Simonati A, Corsolini F, Demir E, Marchiani V, Percesepe A, Stanzial F, Rossi A, Vaurs-Barrière C, Cooper DN, Filocamo M. Grossi S, et al. Among authors: percesepe a. Orphanet J Rare Dis. 2011 Jun 16;6:40. doi: 10.1186/1750-1172-6-40. Orphanet J Rare Dis. 2011. PMID: 21679407 Free PMC article.
BCR-ABL1 compound mutants: prevalence, spectrum and correlation with tyrosine kinase inhibitor resistance in a consecutive series of Philadelphia chromosome-positive leukemia patients analyzed by NGS.
Soverini S, Martelli M, Bavaro L, De Benedittis C, Sica S, Sorà F, Iurlo A, Bonifacio M, Pregno P, Galimberti S, Lunghi F, Albano F, D'Adda M, Crugnola M, Capodanno I, Castagnetti F, Gugliotta G, Papayannidis C, Rosti G, Percesepe A, Mignone F, Baccarani M, Martinelli G, Cavo M. Soverini S, et al. Among authors: percesepe a. Leukemia. 2021 Jul;35(7):2102-2107. doi: 10.1038/s41375-020-01098-w. Epub 2020 Dec 1. Leukemia. 2021. PMID: 33262525 No abstract available.
Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.
Bernardis I, Chiesi L, Tenedini E, Artuso L, Percesepe A, Artusi V, Simone ML, Manfredini R, Camparini M, Rinaldi C, Ciardella A, Graziano C, Balducci N, Tranchina A, Cavallini GM, Pietrangelo A, Marigo V, Tagliafico E. Bernardis I, et al. Among authors: percesepe a. Biomed Res Int. 2016;2016:6341870. doi: 10.1155/2016/6341870. Epub 2016 Dec 29. Biomed Res Int. 2016. PMID: 28127548 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.
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series.
Gnoli M, Staals EL, Campanacci L, Bedeschi MF, Faletra F, Gallone S, Gaudio A, Mattina T, Gurrieri F, Percesepe A, Neri I, Virdi A, Tremosini M, Milanesi A, Brizola E, Pedrini E, Sangiorgi L. Gnoli M, et al. Among authors: percesepe a. Calcif Tissue Int. 2019 Aug;105(2):215-221. doi: 10.1007/s00223-019-00565-6. Epub 2019 May 25. Calcif Tissue Int. 2019. PMID: 31129707
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.
The -2518 A/G polymorphism of the monocyte chemoattractant protein-1 as a candidate genetic predisposition factor for secondary myelofibrosis and biomarker of disease severity.
Masselli E, Carubbi C, Cambò B, Pozzi G, Gobbi G, Mirandola P, Follini E, Pagliaro L, Di Marcantonio D, Bonatti F, Percesepe A, Sykes SM, Aversa F, Vitale M. Masselli E, et al. Among authors: percesepe a. Leukemia. 2018 Oct;32(10):2266-2270. doi: 10.1038/s41375-018-0088-y. Epub 2018 Mar 6. Leukemia. 2018. PMID: 29568096 Free PMC article. No abstract available.
131 results