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Sex-Specific HLA Alleles Contribute to the Modulation of COVID-19 Severity.
Int J Mol Sci. 2024 Dec 8;25(23):13198. doi: 10.3390/ijms252313198.
Int J Mol Sci. 2024.
PMID: 39684907
Free PMC article.
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
Abiusi E, Vaisfeld A, Fiori S, Novelli A, Spartano S, Faggiano MV, Giovanniello T, Angeloni A, Vento G, Santoloci R, Gigli F, D'Amico A, Costa S, Porzi A, Panella M, Ticci C, Daniotti M, Sacchini M, Boschi I, Dani C, Agostiniani R, Bertini E, Lanzone A, Lamarca G, Genuardi M, Pane M, Donati MA, Mercuri E, Tiziano FD; Italian SMA-NBS group.
Abiusi E, et al. Among authors: faggiano mv.
J Med Genet. 2023 Jul;60(7):697-705. doi: 10.1136/jmg-2022-108873. Epub 2022 Nov 22.
J Med Genet. 2023.
PMID: 36414255
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A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism.
Lombardo A, Sinibaldi L, Genovese S, Catino G, Mei V, Pompili D, Sallicandro E, Falasca R, Liambo MT, Faggiano MV, Roberti MC, Di Donato M, Vitelli A, Russo S, Giannini R, Micalizzi A, Pietrafusa N, Digilio MC, Novelli A, Fusco L, Alesi V.
Lombardo A, et al. Among authors: faggiano mv.
Int J Mol Sci. 2024 Jun 24;25(13):6912. doi: 10.3390/ijms25136912.
Int J Mol Sci. 2024.
PMID: 39000022
Free PMC article.
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Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency.
Alesi V, Genovese S, Roberti MC, Sallicandro E, Di Tommaso S, Loddo S, Orlando V, Pompili D, Calacci C, Mei V, Pisaneschi E, Faggiano MV, Morgia A, Mammì C, Astrea G, Battini R, Priolo M, Dentici ML, Milone R, Novelli A.
Alesi V, et al. Among authors: faggiano mv.
Hum Genomics. 2024 Mar 22;18(1):29. doi: 10.1186/s40246-024-00600-0.
Hum Genomics. 2024.
PMID: 38520002
Free PMC article.
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