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805 results

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Page 1
HLA allele frequencies and susceptibility to COVID-19 in a group of 99 Italian patients.
Novelli A, Andreani M, Biancolella M, Liberatoscioli L, Passarelli C, Colona VL, Rogliani P, Leonardis F, Campana A, Carsetti R, Andreoni M, Bernardini S, Novelli G, Locatelli F. Novelli A, et al. Among authors: novelli g. HLA. 2020 Nov;96(5):610-614. doi: 10.1111/tan.14047. Epub 2020 Sep 3. HLA. 2020. PMID: 32827207 Free PMC article.
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?
D'Apice MR, Novelli A, di Masi A, Biancolella M, Antoccia A, Gullotta F, Licata N, Minella D, Testa B, Nardone AM, Palmieri G, Calabrese E, Biancone L, Tanzarella C, Frontali M, Sangiuolo F, Novelli G, Pallone F. D'Apice MR, et al. Among authors: novelli g, novelli a. BMC Med Genet. 2015 Apr 2;16:20. doi: 10.1186/s12881-015-0164-3. BMC Med Genet. 2015. PMID: 25927938 Free PMC article.
Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities.
Gambardella S, Ciabattoni E, Motta F, Stoico G, Gullotta F, Biancolella M, Nardone AM, Novelli A, Brunetti E, Bernardini L, Novelli G. Gambardella S, et al. Among authors: novelli g, novelli a. Genomics Insights. 2010 Mar 11;3:9-21. doi: 10.4137/GEI.S3683. eCollection 2010. Genomics Insights. 2010. PMID: 26279624 Free PMC article.
Resistance to neoplastic transformation of ex-vivo expanded human mesenchymal stromal cells after exposure to supramaximal physical and chemical stress.
Conforti A, Starc N, Biagini S, Tomao L, Pitisci A, Algeri M, Sirleto P, Novelli A, Grisendi G, Candini O, Carella C, Dominici M, Locatelli F, Bernardo ME. Conforti A, et al. Among authors: novelli a. Oncotarget. 2016 Nov 22;7(47):77416-77429. doi: 10.18632/oncotarget.12678. Oncotarget. 2016. PMID: 27764806 Free PMC article.
Congenital heart defects in molecularly proven Kabuki syndrome patients.
Digilio MC, Gnazzo M, Lepri F, Dentici ML, Pisaneschi E, Baban A, Passarelli C, Capolino R, Angioni A, Novelli A, Marino B, Dallapiccola B. Digilio MC, et al. Among authors: novelli a. Am J Med Genet A. 2017 Nov;173(11):2912-2922. doi: 10.1002/ajmg.a.38417. Epub 2017 Sep 8. Am J Med Genet A. 2017. PMID: 28884922
Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation.
de Billy E, Strocchio L, Cacchione A, Agolini E, Gnazzo M, Novelli A, De Vito R, Capolino R, Digilio MC, Caruso R, Mastronuzzi A, Locatelli F. de Billy E, et al. Among authors: novelli a. Am J Med Genet A. 2019 Jan;179(1):113-117. doi: 10.1002/ajmg.a.60674. Epub 2018 Dec 20. Am J Med Genet A. 2019. PMID: 30569626
WWP1 germline variants are associated with normocephalic autism spectrum disorder.
Novelli G, Novelli A, Borgiani P, Cocciadiferro D, Biancolella M, Agolini E, Pietrosanto M, Casalone R, Helmer-Citterich M, Giardina E, Jain SK, Wei W, Eng C, Pandolfi PP. Novelli G, et al. Among authors: novelli a. Cell Death Dis. 2020 Jul 23;11(7):529. doi: 10.1038/s41419-020-2681-z. Cell Death Dis. 2020. PMID: 32699206 Free PMC article. No abstract available.
COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells.
Latini A, Agolini E, Novelli A, Borgiani P, Giannini R, Gravina P, Smarrazzo A, Dauri M, Andreoni M, Rogliani P, Bernardini S, Helmer-Citterich M, Biancolella M, Novelli G. Latini A, et al. Among authors: novelli g, novelli a. Genes (Basel). 2020 Aug 27;11(9):1010. doi: 10.3390/genes11091010. Genes (Basel). 2020. PMID: 32867305 Free PMC article.
Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients.
Novelli A, Biancolella M, Borgiani P, Cocciadiferro D, Colona VL, D'Apice MR, Rogliani P, Zaffina S, Leonardis F, Campana A, Raponi M, Andreoni M, Grelli S, Novelli G. Novelli A, et al. Among authors: novelli g. Hum Genomics. 2020 Sep 11;14(1):29. doi: 10.1186/s40246-020-00279-z. Hum Genomics. 2020. PMID: 32917283 Free PMC article.
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
Zhang Q, Bastard P, Liu Z, Le Pen J, Moncada-Velez M, Chen J, Ogishi M, Sabli IKD, Hodeib S, Korol C, Rosain J, Bilguvar K, Ye J, Bolze A, Bigio B, Yang R, Arias AA, Zhou Q, Zhang Y, Onodi F, Korniotis S, Karpf L, Philippot Q, Chbihi M, Bonnet-Madin L, Dorgham K, Smith N, Schneider WM, Razooky BS, Hoffmann HH, Michailidis E, Moens L, Han JE, Lorenzo L, Bizien L, Meade P, Neehus AL, Ugurbil AC, Corneau A, Kerner G, Zhang P, Rapaport F, Seeleuthner Y, Manry J, Masson C, Schmitt Y, Schlüter A, Le Voyer T, Khan T, Li J, Fellay J, Roussel L, Shahrooei M, Alosaimi MF, Mansouri D, Al-Saud H, Al-Mulla F, Almourfi F, Al-Muhsen SZ, Alsohime F, Al Turki S, Hasanato R, van de Beek D, Biondi A, Bettini LR, D'Angio' M, Bonfanti P, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Oler AJ, Tompkins MF, Alba C, Vandernoot I, Goffard JC, Smits G, Migeotte I, Haerynck F, Soler-Palacin P, Martin-Nalda A, Colobran R, Morange PE, Keles S, Çölkesen F, Ozcelik T, Yasar KK, Senoglu S, Karabela ŞN, Rodríguez-Gallego C, Novelli G, Hraiech S, Tandjaoui-Lambiotte Y, Duval X, Laouénan C; COVID-STORM Clinicians; COVID Clinicians; Imagine COVID Group; French COVID Cohort Study Group; CoV-Contact… See abstract for full author list ➔ Zhang Q, et al. Among authors: novelli g. Science. 2020 Oct 23;370(6515):eabd4570. doi: 10.1126/science.abd4570. Epub 2020 Sep 24. Science. 2020. PMID: 32972995 Free PMC article.
805 results