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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.
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.
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
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
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