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208 results

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Maturation signatures of conventional dendritic cell subtypes in COVID-19 suggest direct viral sensing.
Marongiu L, Protti G, Facchini FA, Valache M, Mingozzi F, Ranzani V, Putignano AR, Salviati L, Bevilacqua V, Curti S, Crosti M, Sarnicola ML, D'Angiò M, Bettini LR, Biondi A, Nespoli L, Tamini N, Clementi N, Mancini N, Abrignani S, Spreafico R, Granucci F. Marongiu L, et al. Among authors: salviati l. Eur J Immunol. 2022 Jan;52(1):109-122. doi: 10.1002/eji.202149298. Epub 2021 Oct 1. Eur J Immunol. 2022. PMID: 34333764 Free PMC article.
Prevalence of AIP mutations in a large series of sporadic Italian acromegalic patients and evaluation of CDKN1B status in acromegalic patients with multiple endocrine neoplasia.
Occhi G, Trivellin G, Ceccato F, De Lazzari P, Giorgi G, Demattè S, Grimaldi F, Castello R, Davì MV, Arnaldi G, Salviati L, Opocher G, Mantero F, Scaroni C. Occhi G, et al. Among authors: salviati l. Eur J Endocrinol. 2010 Sep;163(3):369-76. doi: 10.1530/EJE-10-0327. Epub 2010 Jun 7. Eur J Endocrinol. 2010. PMID: 20530095
Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I.
Puma A, Tammam G, Ezaru A, Slioui A, Torchia E, Tasca G, Villa L, Cavalli M, Salviati L, van der Vliet PJ, Lemmers RJ, Pini J, van der Maarel SM, Sacconi S. Puma A, et al. Among authors: salviati l. Eur J Hum Genet. 2025 Jan 7. doi: 10.1038/s41431-024-01770-0. Online ahead of print. Eur J Hum Genet. 2025. PMID: 39775061
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.
Carpentieri G, Cecchetti S, Bocchinfuso G, Radio FC, Leoni C, Onesimo R, Calligari P, Pietrantoni A, Ciolfi A, Ferilli M, Calderan C, Cappuccio G, Martinelli S, Messina E, Caputo V, Hüffmeier U, Mignot C, Auvin S, Capri Y, Lourenco CM, Russell BE, Neustad A, Brunetti Pierri N, Keren B, Reis A, Cohen JS, Heidlebaugh A, Smith C, Thiel CT, Salviati L, Zampino G, Campeau PM, Stella L, Tartaglia M, Flex E. Carpentieri G, et al. Among authors: salviati l. HGG Adv. 2024 Oct 10;5(4):100349. doi: 10.1016/j.xhgg.2024.100349. Epub 2024 Aug 29. HGG Adv. 2024. PMID: 39210597 Free PMC article.
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Mastromoro G, Santoro C, Motta M, Sorrentino U, Daniele P, Peduto C, Petrizzelli F, Tripodi M, Pinna V, Zanobio M, Rotundo G, Bellacchio E, Lepri F, Farina A, D'Asdia MC, Piceci-Sparascio F, Biagini T, Petracca A, Castori M, Melis D, Accadia M, Traficante G, Tarani L, Fontana P, Sirchia F, Paparella R, Currò A, Benedicenti F, Scala I, Dentici ML, Leoni C, Trevisan V, Cecconi A, Giustini S, Pizzuti A, Salviati L, Novelli A, Zampino G, Zenker M, Genuardi M, Digilio MC, Papi L, Perrotta S, Nigro V, Castellanos E, Mazza T, Trevisson E, Tartaglia M, Piluso G, De Luca A. Mastromoro G, et al. Among authors: salviati l. Genet Med. 2024 Nov;26(11):101241. doi: 10.1016/j.gim.2024.101241. Epub 2024 Aug 10. Genet Med. 2024. PMID: 39140257
Non-Motor Symptoms in Primary Familial Brain Calcification.
Bonato G, Cimino P, Pistonesi F, Salviati L, Bertolin C, Carecchio M. Bonato G, et al. Among authors: salviati l. J Clin Med. 2024 Jun 30;13(13):3873. doi: 10.3390/jcm13133873. J Clin Med. 2024. PMID: 38999439 Free PMC article.
208 results