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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1996 2
1997 3
1998 3
1999 2
2000 7
2001 4
2002 1
2003 7
2004 7
2005 5
2006 8
2007 16
2008 13
2009 9
2010 11
2011 8
2012 7
2013 8
2014 8
2015 4
2016 6
2017 10
2018 9
2019 9
2020 15
2021 16
2022 17
2023 11
2024 18
2025 19

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241 results

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Page 1
Leber's congenital amaurosis: an update.
Fazzi E, Signorini SG, Scelsa B, Bova SM, Lanzi G. Fazzi E, et al. Among authors: signorini sg. Eur J Paediatr Neurol. 2003;7(1):13-22. doi: 10.1016/s1090-3798(02)00135-6. Eur J Paediatr Neurol. 2003. PMID: 12615170 Review.
Impact of a Mediterranean Dietary Pattern and Its Components on Cardiovascular Risk Factors, Glucose Control, and Body Weight in People with Type 2 Diabetes: A Real-Life Study.
Vitale M, Masulli M, Calabrese I, Rivellese AA, Bonora E, Signorini S, Perriello G, Squatrito S, Buzzetti R, Sartore G, Babini AC, Gregori G, Giordano C, Clemente G, Grioni S, Dolce P, Riccardi G, Vaccaro O; TOSCA.IT Study Group. Vitale M, et al. Among authors: signorini s. Nutrients. 2018 Aug 10;10(8):1067. doi: 10.3390/nu10081067. Nutrients. 2018. PMID: 30103444 Free PMC article. Clinical Trial.
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Issa PC, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernández-Caballero L, Sallum JMF, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzàlez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB 4th, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knézy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leroy BP, Martín-Gutiérrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, López-Rodríguez VRJ, Mahroo OA, Manes G… See abstract for full author list ➔ Quinodoz M, et al. Among authors: signorini sg. medRxiv [Preprint]. 2025 Jan 6:2025.01.06.24317169. doi: 10.1101/2025.01.06.24317169. medRxiv. 2025. PMID: 39830270 Free PMC article. Preprint.
Difficult-To-Treat Depression. Scoping Review.
Paganin W, Signorini S, Sciarretta A. Paganin W, et al. Among authors: signorini s. Clin Neuropsychiatry. 2023 Jun;20(3):173-182. doi: 10.36131/cnfioritieditore20230302. Clin Neuropsychiatry. 2023. PMID: 37522111 Free PMC article.
Autoantibodies to Interferons in Infectious Diseases.
Quiros-Roldan E, Sottini A, Signorini SG, Serana F, Tiecco G, Imberti L. Quiros-Roldan E, et al. Among authors: signorini sg. Viruses. 2023 May 22;15(5):1215. doi: 10.3390/v15051215. Viruses. 2023. PMID: 37243300 Free PMC article. Review.
COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management.
Tambala D, Vassar R, Snow J, Balestrini S, Bersano A, Guey S, Bonaventura E, Signorini S, Sartori S, Bertini E, Tonduti D, Parazzini C, Macchiaiolo M, Pelizza MF, Pichiecchio A, Massella L, Coste T, Orcesi S, Politano D, Bacci G, Marziali E, Dollfus H, Mandelli A, Chinali M, Plaisier E, Simioni P, Colombatti R, Guerrini R, Tournier-Lasserve E, Gould DB, Musolino PL. Tambala D, et al. Among authors: signorini s. Genet Med. 2025 Sep;27(9):101514. doi: 10.1016/j.gim.2025.101514. Epub 2025 Jul 2. Genet Med. 2025. PMID: 40616396 Free article.
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.
Bruselles A, Mancini C, Chiriatti L, Carvetta M, Baroni MC, Cappelletti C, Caraffi SG, Celario M, Ciolfi A, Cordeddu V, De Falco A, Ferilli M, Garavelli L, Leoni C, Meossi C, Niceta M, Onesimo R, Peluso F, Politano D, Priolo M, Radio FC, Santorelli F, Signorini S, Sirchia F, Valente EM, Zampino G, Tartaglia M. Bruselles A, et al. Among authors: signorini s. Eur J Hum Genet. 2025 Apr;33(4):432-440. doi: 10.1038/s41431-025-01820-1. Epub 2025 Feb 26. Eur J Hum Genet. 2025. PMID: 40011755
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.
D'Abrusco F, Serpieri V, Taccagni CM, Garau J, Cattaneo L, Boggioni M, Gana S, Battini R, Bertini E, Zanni G, Boltshauser E, Borgatti R, Romaniello R, Signorini S, Leuzzi V, Caputi C, Manti F, D'Arrigo S, De Laurentiis A, Graziano C, Lemke JR, Morelli F, Petković Ramadža D, Sirchia F, Giorgio E, Valente EM. D'Abrusco F, et al. Among authors: signorini s. Eur J Hum Genet. 2025 Jan;33(1):72-79. doi: 10.1038/s41431-024-01703-x. Epub 2024 Oct 11. Eur J Hum Genet. 2025. PMID: 39394465 Free PMC article.
241 results