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Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development.
Luca M, Carli D, Cardaropoli S, Milani D, Cocchi G, Leoni C, Macchiaiolo M, Bartuli A, Tarani L, Melis D, Bontempo P, D'Elia G, Prada E, Vitale R, Grammegna A, Tannorella P, Sparago A, Pignata L, Riccio A, Russo S, Ferrero GB, Mussa A. Luca M, et al. Cancers (Basel). 2023 Jan 26;15(3):773. doi: 10.3390/cancers15030773. Cancers (Basel). 2023. PMID: 36765732 Free PMC article.
Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.
Saglia C, Bracciamà V, Trotta L, Mioli F, Faini AC, Brach Del Prever GM, Kalantari S, Luca M, Romeo CM, Scolari C, Peruzzi L, Calvo PL, Mussa A, Fenoglio R, Roccatello D, Alberti C, Carli D, Amoroso A, Deaglio S, Vaisitti T. Saglia C, et al. Among authors: luca m. BMC Med Genomics. 2023 Nov 27;16(1):303. doi: 10.1186/s12920-023-01747-w. BMC Med Genomics. 2023. PMID: 38012624 Free PMC article.
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Dentici ML, Niceta M, Lepri FR, Mancini C, Priolo M, Bonnard AA, Cappelletti C, Leoni C, Ciolfi A, Pizzi S, Cordeddu V, Rossi C, Ferilli M, Mucciolo M, Colona VL, Fauth C, Bellini M, Biasucci G, Sinibaldi L, Briuglia S, Gazzin A, Carli D, Memo L, Trevisson E, Schiavariello C, Luca M, Novelli A, Michot C, Sweertvaegher A, Germanaud D, Scarano E, De Luca A, Zampino G, Zenker M, Mussa A, Dallapiccola B, Cavé H, Digilio MC, Tartaglia M. Dentici ML, et al. Among authors: luca m. Eur J Hum Genet. 2024 Jun 1. doi: 10.1038/s41431-024-01642-7. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38824261
Functional evaluation of a novel nonsense variant of the calcium-sensing receptor gene leading to hypocalcemia.
Saglia C, Arruga F, Scolari C, Kalantari S, Albanese S, Bracciamà V, Corso Faini A, Brach Del Prever G, Luca M, Romeo C, Mioli F, Migliorero M, Tessaris D, Carli D, Amoroso A, Vaisitti T, De Sanctis L, Deaglio S. Saglia C, et al. Among authors: luca m. Eur J Endocrinol. 2024 Mar 30;190(4):296-306. doi: 10.1093/ejendo/lvae035. Eur J Endocrinol. 2024. PMID: 38561929
Dysbindin-1A modulation of astrocytic dopamine and basal ganglia dependent behaviors relevant to schizophrenia.
Mastrogiacomo R, Trigilio G, Devroye C, Dautan D, Ferretti V, Losi G, Caffino L, Orso G, Marotta R, Maltese F, Vitali E, Piras G, Forgiarini A, Pacinelli G, Lia A, Rothmond DA, Waddington JL, Drago F, Fumagalli F, Luca MA, Leggio GM, Carmignoto G, Weickert CS, Managò F, Papaleo F. Mastrogiacomo R, et al. Mol Psychiatry. 2022 Oct;27(10):4201-4217. doi: 10.1038/s41380-022-01683-8. Epub 2022 Jul 11. Mol Psychiatry. 2022. PMID: 35821415 Free article.
Pertussis outbreak in neonates and young infants across Italy, January to May 2024: implications for vaccination strategies.
Poeta M, Moracas C, Albano C, Petrarca L, Maglione M, Pierri L, Carta M, Montaldo P, Venturini E, De Luca M, Buonsenso D, Brambilla I, Giacomet V, Lo Vecchio A, Bruzzese E, Midulla F, Colomba C, Guarino A. Poeta M, et al. Among authors: de luca m. Euro Surveill. 2024 Jun;29(23). doi: 10.2807/1560-7917.ES.2024.29.23.2400301. Euro Surveill. 2024. PMID: 38847118
Personalized bacteriophage therapy outcomes for 100 consecutive cases: a multicentre, multinational, retrospective observational study.
Pirnay JP, Djebara S, Steurs G, Griselain J, Cochez C, De Soir S, Glonti T, Spiessens A, Vanden Berghe E, Green S, Wagemans J, Lood C, Schrevens E, Chanishvili N, Kutateladze M, de Jode M, Ceyssens PJ, Draye JP, Verbeken G, De Vos D, Rose T, Onsea J, Van Nieuwenhuyse B; Bacteriophage Therapy Providers; Bacteriophage Donors; Soentjens P, Lavigne R, Merabishvili M. Pirnay JP, et al. Nat Microbiol. 2024 Jun;9(6):1434-1453. doi: 10.1038/s41564-024-01705-x. Epub 2024 Jun 4. Nat Microbiol. 2024. PMID: 38834776 Free PMC article.
Posner-Schlossman Syndrome European Study Group: study protocol and baseline patients characteristics of a multicentre study.
Interlandi E, Cimino L, Accorinti M, Miserocchi E, Latanza L, Allegri P, Mora P, Fonollosa A, Adan A, Pavesio C, De Marco R, Gandolfi SA, Nucci P, De Luca M, Gozzi F, Visioli G, Rissotto F, Rissotto R, Bellucci C, Cachero JM, Pellegrini F, Li Calzi G, Sainz de la Maza M, Cirillo P, Mastrofilippo V, Sacchi M. Interlandi E, et al. Among authors: de luca m. Br J Ophthalmol. 2024 May 29:bjo-2023-324900. doi: 10.1136/bjo-2023-324900. Online ahead of print. Br J Ophthalmol. 2024. PMID: 38811053
1,851 results