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Page 1
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Leone MP, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, Baldo D, Turolla L, Piccione M, Salzano E, Busè M, Lastella P, Zollino M, Cantone R, Grosso E, Zonta A, Pasini B, Piscopo C, De Maggio I, Priolo M, Mammi C, Foiadelli T, Trabatti C, Savasta S, Iolascon A, Ferraris A, Lodato V, Di Giosaffatte N, Majore S, Selicorni A, Petracca A, Fusco C, Celli M, Guarnieri V, Micale L, Castori M. Leone MP, et al. Among authors: nardella g. Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20. Hum Genet. 2023. PMID: 37079061
Invasive Candida Infections in Neonates after Major Surgery: Current Evidence and New Directions.
De Rose DU, Santisi A, Ronchetti MP, Martini L, Serafini L, Betta P, Maino M, Cavigioli F, Cocchi I, Pugni L, Bonanno E, Tzialla C, Giuffrè M, Bua J, Della Torre B, Nardella G, Mazzeo D, Manzoni P, Dotta A, Bagolan P, Auriti C, On Behalf Of Study Group Of Neonatal Infectious Diseases. De Rose DU, et al. Among authors: nardella g. Pathogens. 2021 Mar 9;10(3):319. doi: 10.3390/pathogens10030319. Pathogens. 2021. PMID: 33803104 Free PMC article. Review.
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.
Cinque L, Pugliese F, Salcuni AS, Trombetta D, Battista C, Biagini T, Augello B, Nardella G, Conti F, Corbetta S, Fischetto R, Foiadelli T, Gaudio A, Giannini C, Grosso E, Guabello G, Massuras S, Palermo A, Politano L, Pigliaru F, Ruggeri RM, Scarano E, Vicchio P, Cannavò S, Celli M, Petrizzelli F, Mastroianno M, Castori M, Scillitani A, Guarnieri V. Cinque L, et al. Among authors: nardella g. Front Endocrinol (Lausanne). 2023 Aug 1;14:1205977. doi: 10.3389/fendo.2023.1205977. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37600704 Free PMC article.
Amplification of protease-activated receptors signaling in sporadic cerebral cavernous malformation endothelial cells.
Scimone C, Alibrandi S, Donato L, De Gaetano GV, Fusco C, Nardella G, Castori M, Rinaldi C, Alafaci C, Germanò A, D'Angelo R, Sidoti A. Scimone C, et al. Among authors: nardella g. Biochim Biophys Acta Mol Cell Res. 2023 Jun;1870(5):119474. doi: 10.1016/j.bbamcr.2023.119474. Epub 2023 Apr 7. Biochim Biophys Acta Mol Cell Res. 2023. PMID: 37030452 Free article.
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.
Fusco C, Nardella G, Petracca A, Ronchi D, Paciello N, Di Giacomo M, Gambardella S, Lanfranconi S, Zampatti S, D'Agruma L, Micale L, Castori M. Fusco C, et al. Among authors: nardella g. Clin Genet. 2021 Jun;99(6):829-835. doi: 10.1111/cge.13944. Epub 2021 Feb 25. Clin Genet. 2021. PMID: 33604894
Maternal Carriage in Late-Onset Group B Streptococcus Disease, Italy.
Berardi A, Spada C, Creti R, Auriti C, Gambini L, Rizzo V, Capretti M, Laforgia N, Papa I, Tarocco A, Lanzoni A, Biasucci G, Piccinini G, Nardella G, Latorre G, Merazzi D, Travan L, Reggiani MLB, Baroni L, Ciccia M, Lucaccioni L, Iughetti L, Lugli L. Berardi A, et al. Among authors: nardella g. Emerg Infect Dis. 2021;27(9):2279-2287. doi: 10.3201/eid2709.210049. Emerg Infect Dis. 2021. PMID: 34423765 Free PMC article.
38 results