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

Year Number of Results
1992 1
2001 1
2002 13
2003 9
2004 18
2005 13
2006 11
2007 23
2008 17
2009 18
2010 22
2011 15
2012 23
2013 18
2014 13
2015 22
2016 23
2017 26
2018 19
2019 19
2020 40
2021 36
2022 27
2023 29
2024 8

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425 results

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Page 1
Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations.
Graziani L, Nuovo S, Pisaneschi E, Carriero ML, Baghernajad Salehi L, Nardone AM, Manganaro L, Novelli A, D'Apice MR, Mappa I, Novelli G. Graziani L, et al. Among authors: novelli g. J Matern Fetal Neonatal Med. 2024 Dec;37(1):2344718. doi: 10.1080/14767058.2024.2344718. Epub 2024 Apr 28. J Matern Fetal Neonatal Med. 2024. PMID: 38679587 Free article.
Are Surgeons Going to Be Left Holding the Bag? Incisional Hernia Repair and Intra-Peritoneal Non-Absorbable Mesh Implant Complications.
Kirkpatrick AW, Coccolini F, Tolonen M, Minor S, Catena F, Celotti A, Gois E Jr, Perrone G, Novelli G, Garulli G, Ioannidis O, Sugrue M, De Simone B, Tartaglia D, Lampella H, Ferreira F, Ansaloni L, Parry NG, Colak E, Podda M, Noceroni L, Vallicelli C, Rezende-Netos J, Ball CG, McKee J, Moore EE, Mather J. Kirkpatrick AW, et al. Among authors: novelli g. J Clin Med. 2024 Feb 9;13(4):1005. doi: 10.3390/jcm13041005. J Clin Med. 2024. PMID: 38398318 Free PMC article. Review.
The rs11568820 Variant in the Promoter Region of Vitamin D Receptor Gene Is Associated with Clinical Remission in Rheumatoid Arthritis Patients Receiving Tumor Necrosis Factor Inhibitors.
Latini A, De Benedittis G, Conigliaro P, Bonini C, Morgante C, Iacovantuono M, D'Antonio A, Bergamini A, Novelli G, Chimenti MS, Ciccacci C, Borgiani P. Latini A, et al. Among authors: novelli g. Genes (Basel). 2024 Feb 12;15(2):234. doi: 10.3390/genes15020234. Genes (Basel). 2024. PMID: 38397223 Free PMC article.
Large-scale DNA sequencing identifies rare variants associated with Systemic Lupus Erythematosus susceptibility in known risk genes.
Latini A, Borgiani P, De Benedittis G, Ciccacci C, Novelli L, Pepe G, Helmer-Citterich M, Baldini I, Perricone C, Ceccarelli F, Conti F, Ianniciello G, Caceres J, Ottalevi R, Capulli M, Novelli G. Latini A, et al. Among authors: novelli g. Gene. 2024 May 20;907:148279. doi: 10.1016/j.gene.2024.148279. Epub 2024 Feb 13. Gene. 2024. PMID: 38360126 Free article.
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Tayoun AA, Aiuti A, Darazam IA, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, Zein LE, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Akcan OM, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, von Bernut… See abstract for full author list ➔ Matuozzo D, et al. Among authors: novelli g. Genome Med. 2024 Jan 6;16(1):6. doi: 10.1186/s13073-023-01278-0. Genome Med. 2024. PMID: 38184654 Free PMC article. No abstract available.
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children.
Bastard P, Gervais A, Taniguchi M, Saare L, Särekannu K, Le Voyer T, Philippot Q, Rosain J, Bizien L, Asano T, Garcia-Prat M, Parra-Martínez A, Migaud M, Tsumura M, Conti F, Belot A, Rivière JG, Morio T, Tanaka J, Javouhey E, Haerynck F, Duvlis S, Ozcelik T, Keles S, Tandjaoui-Lambiotte Y, Escoda S, Husain M, Pan-Hammarström Q, Hammarström L, Ahlijah G, Abi Haidar A, Soudee C, Arseguel V, Abolhassani H, Sahanic S, Tancevski I, Nukui Y, Hayakawa S, Chrousos GP, Michos A, Tatsi EB, Filippatos F, Rodriguez-Palmero A, Troya J, Tipu I, Meyts I, Roussel L, Ostrowski SR, Schidlowski L, Prando C, Condino-Neto A, Cheikh N, Bousfiha AA, El Bakkouri J; COVID Clinicians; GEN-COVID Study Group; COVID Human Genetic Effort; Peterson P, Pujol A, Lévy R, Quartier P, Vinh DC, Boisson B, Béziat V, Zhang SY, Borghesi A, Pession A, Andreakos E, Marr N, Mentis AA, Mogensen TH, Rodríguez-Gallego C, Soler-Palacin P, Colobran R, Tillmann V, Neven B, Trouillet-Assant S, Brodin P, Abel L, Jouanguy E, Zhang Q, Martinón-Torres F, Salas A, Gómez-Carballa A, Gonzalez-Granado LI, Kisand K, Okada S, Puel A, Cobat A, Casanova JL. Bastard P, et al. J Exp Med. 2024 Feb 5;221(2):e20231353. doi: 10.1084/jem.20231353. Epub 2024 Jan 4. J Exp Med. 2024. PMID: 38175961 Free PMC article.
Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations.
Ferese R, Scala S, Suppa A, Campopiano R, Asci F, Zampogna A, Chiaravalloti MA, Griguoli A, Storto M, Pardo AD, Giardina E, Zampatti S, Fornai F, Novelli G, Fanelli M, Zecca C, Logroscino G, Centonze D, Gambardella S. Ferese R, et al. Among authors: novelli g. Front Neurol. 2023 Dec 7;14:1296924. doi: 10.3389/fneur.2023.1296924. eCollection 2023. Front Neurol. 2023. PMID: 38145127 Free PMC article.
Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype.
Marchionni E, D'Apice MR, Lupo V, Lattanzi G, Mattioli E, Lisignoli G, Gabusi E, Pepe G, Helmer Citterich M, Campione E, Nardone AM, Spitalieri P, Pucci N, Cocciadiferro D, Picchi E, Garaci F, Novelli A, Novelli G. Marchionni E, et al. Among authors: novelli g. Bone Rep. 2023 Nov 27;19:101728. doi: 10.1016/j.bonr.2023.101728. eCollection 2023 Dec. Bone Rep. 2023. PMID: 38076483 Free PMC article.
425 results