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Page 1
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice.
Innella G, Coccia E, Cristalli CP, Zacchi E, Calabrese S, Bacchi I, Palombo F, Taormina S, Evangelisti C, Lanzoni G, Carelli V, Diquigiovanni C, Ferrari S, Panza E, Rossi C, Vaisfeld A, Bonora E, Turchetti D. Innella G, et al. Among authors: vaisfeld a. Clin Genet. 2024 Dec 21. doi: 10.1111/cge.14684. Online ahead of print. Clin Genet. 2024. PMID: 39707869
Sex-Specific HLA Alleles Contribute to the Modulation of COVID-19 Severity.
Spartano S, Faggiano MV, Guidi G, D'Ambrosio P, Vaisfeld A, Novelli A, Falqui S, Cingolani A, Lambertenghi L, Visentin A, Azzini A, Righi E, Trecarichi EM, Mazzitelli M, Coletti S, Mous J, Rademacher TW, Torti C, Tacconelli E, Fantoni M, Cauda R, Tiziano FD. Spartano S, et al. Among authors: vaisfeld a. Int J Mol Sci. 2024 Dec 8;25(23):13198. doi: 10.3390/ijms252313198. Int J Mol Sci. 2024. PMID: 39684907 Free PMC article.
Simpson-Golabi-Behmel syndrome.
Vaisfeld A, Neri G. Vaisfeld A, et al. Am J Med Genet C Semin Med Genet. 2024 Dec;196(4):e32088. doi: 10.1002/ajmg.c.32088. Epub 2024 May 20. Am J Med Genet C Semin Med Genet. 2024. PMID: 38766979 Review.
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?
Pane M, Stanca G, Ticci C, Cutrona C, De Sanctis R, Pirinu M, Coratti G, Palermo C, Berti B, Leone D, Sacchini M, Cerboneschi M, Fanelli L, Norcia G, Forcina N, Capasso A, Cicala G, Antonaci L, Ricci M, Pera MC, Bravetti C, Donati MA, Procopio E, Abiusi E, Vaisfeld A, Onesimo R, Tiziano FD, Mercuri E. Pane M, et al. Among authors: vaisfeld a. Eur J Pediatr. 2024 Jul;183(7):2995-2999. doi: 10.1007/s00431-024-05546-y. Epub 2024 Apr 18. Eur J Pediatr. 2024. PMID: 38634892 Free PMC article.
Two more families supporting the existence of monogenic spinocerebellar ataxia 48.
Palombo F, Vaisfeld A, Tropeano VC, Ormanbekova D, Bacchi I, Fiorini C, Peruzzi A, Morandi L, Liguori R, Carelli V, Rizzo G. Palombo F, et al. Among authors: vaisfeld a. Neurogenetics. 2024 Jul;25(3):277-280. doi: 10.1007/s10048-024-00758-8. Epub 2024 Apr 16. Neurogenetics. 2024. PMID: 38625442
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.
Viggiano M, Ceroni F, Visconti P, Posar A, Scaduto MC, Sandoni L, Baravelli I, Cameli C, Rochat MJ, Maresca A, Vaisfeld A, Gentilini D, Calzari L, Carelli V, Zody MC, Maestrini E, Bacchelli E. Viggiano M, et al. Among authors: vaisfeld a. NPJ Genom Med. 2024 Mar 22;9(1):21. doi: 10.1038/s41525-024-00411-1. NPJ Genom Med. 2024. PMID: 38519481 Free PMC article.
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.
Fetta A, Toni F, Pettenuzzo I, Ricci E, Rocca A, Gambi C, Soliani L, Di Pisa V, Martini S, Sperti G, Cagnazzo V, Accorsi P, Bartolini E, Battaglia D, Bernardo P, Canevini MP, Ferrari AR, Giordano L, Locatelli C, Mancardi M, Orsini A, Pippucci T, Pruna D, Rosati A, Suppiej A, Tagliani S, Vaisfeld A, Vignoli A, Izumi K, Krantz I, Cordelli DM. Fetta A, et al. Among authors: vaisfeld a. Orphanet J Rare Dis. 2024 Mar 8;19(1):107. doi: 10.1186/s13023-024-03065-5. Orphanet J Rare Dis. 2024. PMID: 38459574 Free PMC article. Review.
Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder.
Bacchelli E, Viggiano M, Ceroni F, Visconti P, Posar A, Scaduto M, Sandoni L, Baravelli I, Cameli C, Rochat M, Maresca A, Vaisfeld A, Gentilini D, Calzari L, Carelli V, Zody M, Maestrini E. Bacchelli E, et al. Among authors: vaisfeld a. Res Sq [Preprint]. 2023 Oct 28:rs.3.rs-3468592. doi: 10.21203/rs.3.rs-3468592/v1. Res Sq. 2023. Update in: NPJ Genom Med. 2024 Mar 22;9(1):21. doi: 10.1038/s41525-024-00411-1 PMID: 37961520 Free PMC article. Updated. Preprint.
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: vaisfeld a. 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
18 results