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136 results

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Page 1
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.
Mei D, Balestrini S, Parrini E, Gambardella A, Annesi G, De Giorgis V, Gana S, Bassi MT, Zucca C, Elia M, Vetri L, Castellotti B, Ragona F, Mastrangelo M, Pisani F, d'Orsi G, Carella M, Pruna D, Giglio S, Marini C, Cesaroni E, Riva A, Scala M, Licchetta L, Minardi R, Contaldo I, Gambardella ML, Cossu A, Proietti J, Cantalupo G; LICE Collaborative Group; Trivisano M, De Dominicis A, Specchio N, Tassi L, Guerrini R. Mei D, et al. J Med Genet. 2024 Dec 31;62(1):25-31. doi: 10.1136/jmg-2024-110328. J Med Genet. 2024. PMID: 39613335 Free PMC article.
Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency.
Martino S, D'Addabbo P, Turchiano A, Radio FC, Bruselles A, Cordeddu V, Mancini C, Stella A, Laforgia N, Capodiferro D, Simonetti S, Bagnulo R, Palumbo O, Marzano F, Tabaku O, Garganese A, Stasi M, Tartaglia M, Pesole G, Resta N. Martino S, et al. Among authors: palumbo o. Int J Mol Sci. 2024 Sep 5;25(17):9637. doi: 10.3390/ijms25179637. Int J Mol Sci. 2024. PMID: 39273584 Free PMC article.
Co-Occurrence of Beckwith-Wiedemann Syndrome and Early-Onset Colorectal Cancer.
Cecere F, Pignata L, Hay Mele B, Saadat A, D'Angelo E, Palumbo O, Palumbo P, Carella M, Scarano G, Rossi GB, Angelini C, Sparago A, Cerrato F, Riccio A. Cecere F, et al. Among authors: palumbo o. Cancers (Basel). 2023 Mar 23;15(7):1944. doi: 10.3390/cancers15071944. Cancers (Basel). 2023. PMID: 37046605 Free PMC article.
The Biallelic Inheritance of Two Novel SCN1A Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam.
Dinoi G, Conte E, Palumbo O, Benvenuto M, Coppola MA, Palumbo P, Lastella P, Boccanegra B, Di Muro E, Castori M, Carella M, Sciruicchio V, de Tommaso M, Liantonio A, De Luca A, La Neve A, Imbrici P. Dinoi G, et al. Among authors: palumbo o. Biomedicines. 2024 Jul 31;12(8):1698. doi: 10.3390/biomedicines12081698. Biomedicines. 2024. PMID: 39200163 Free PMC article.
microRNA-mRNA network model in patients with achalasia.
Palmieri O, Mazza T, Bassotti G, Merla A, Tolone S, Biagini T, Cuttitta A, Bossa F, Martino G, Latiano T, Corritore G, Gioffreda D, Palumbo O, Carella M, Panza A, Andriulli A, Latiano A. Palmieri O, et al. Among authors: palumbo o. Neurogastroenterol Motil. 2020 Mar;32(3):e13764. doi: 10.1111/nmo.13764. Epub 2019 Nov 26. Neurogastroenterol Motil. 2020. PMID: 31773868
136 results