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Page 1
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
Ognibene M, Scala M, Iacomino M, Schiavetti I, Madia F, Traverso M, Guerrisi S, Di Duca M, Caroli F, Baldassari S, Tappino B, Romano F, Uva P, Vozzi D, Chelleri C, Piatelli G, Diana MC, Zara F, Capra V, Pavanello M, De Marco P. Ognibene M, et al. Among authors: vozzi d. Cancers (Basel). 2023 Mar 22;15(6):1916. doi: 10.3390/cancers15061916. Cancers (Basel). 2023. PMID: 36980803 Free PMC article.
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing.
Rosti G, Boeri S, Divizia MT, Pisciotta L, Mancardi MM, Lerone M, Cerminara M, Servetti M, Spirito G, Vozzi D, Fontana M, Gustincich S, Nobili L, Zara F, Puliti A. Rosti G, et al. Among authors: vozzi d. Mol Syndromol. 2023 Oct;14(5):433-438. doi: 10.1159/000529408. Epub 2023 May 9. Mol Syndromol. 2023. PMID: 37915395 Free PMC article.
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene.
Miano M, Bertola N, Grossi A, Dell'Orso G, Regis S, Rusmini M, Uva P, Vozzi D, Fioredda F, Palmisani E, Lupia M, Lanciotti M, Grilli F, Corsolini F, Arcuri L, Giarratana MC, Ceccherini I, Dufour C, Cappelli E, Ravera S. Miano M, et al. Among authors: vozzi d. Int J Mol Sci. 2024 Feb 8;25(4):2083. doi: 10.3390/ijms25042083. Int J Mol Sci. 2024. PMID: 38396760 Free PMC article.
LINE-1 regulates cortical development by acting as long non-coding RNAs.
Mangoni D, Simi A, Lau P, Armaos A, Ansaloni F, Codino A, Damiani D, Floreani L, Di Carlo V, Vozzi D, Persichetti F, Santoro C, Pandolfini L, Tartaglia GG, Sanges R, Gustincich S. Mangoni D, et al. Among authors: vozzi d. Nat Commun. 2023 Aug 17;14(1):4974. doi: 10.1038/s41467-023-40743-7. Nat Commun. 2023. PMID: 37591988 Free PMC article.
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals.
Okbay A, Wu Y, Wang N, Jayashankar H, Bennett M, Nehzati SM, Sidorenko J, Kweon H, Goldman G, Gjorgjieva T, Jiang Y, Hicks B, Tian C, Hinds DA, Ahlskog R, Magnusson PKE, Oskarsson S, Hayward C, Campbell A, Porteous DJ, Freese J, Herd P; 23andMe Research Team; Social Science Genetic Association Consortium; Watson C, Jala J, Conley D, Koellinger PD, Johannesson M, Laibson D, Meyer MN, Lee JJ, Kong A, Yengo L, Cesarini D, Turley P, Visscher PM, Beauchamp JP, Benjamin DJ, Young AI. Okbay A, et al. Nat Genet. 2022 Apr;54(4):437-449. doi: 10.1038/s41588-022-01016-z. Epub 2022 Mar 31. Nat Genet. 2022. PMID: 35361970 Free PMC article.
Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).
Papa R, Rusmini M, Schena F, Traggiai E, Coccia MC, Caorsi R, Arrigo S, Pasetti F, Signa S, Barone P, Santamaria G, Spirito G, Sanges R, Vozzi D, Cavalli A, Gustincich S, Ravelli A, Gattorno M, Ceccherini I, Volpi S. Papa R, et al. Among authors: vozzi d. Clin Immunol. 2021 Oct;231:108837. doi: 10.1016/j.clim.2021.108837. Epub 2021 Aug 26. Clin Immunol. 2021. PMID: 34455097
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances.
Cerminara M, Spirito G, Pisciotta L, Squillario M, Servetti M, Divizia MT, Lerone M, Berloco B, Boeri S, Nobili L, Vozzi D, Sanges R, Gustincich S, Puliti A. Cerminara M, et al. Among authors: vozzi d. Front Genet. 2021 Feb 18;12:625564. doi: 10.3389/fgene.2021.625564. eCollection 2021. Front Genet. 2021. PMID: 33679889 Free PMC article.
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.
Karlsson Linnér R, Biroli P, Kong E, Meddens SFW, Wedow R, Fontana MA, Lebreton M, Tino SP, Abdellaoui A, Hammerschlag AR, Nivard MG, Okbay A, Rietveld CA, Timshel PN, Trzaskowski M, Vlaming R, Zünd CL, Bao Y, Buzdugan L, Caplin AH, Chen CY, Eibich P, Fontanillas P, Gonzalez JR, Joshi PK, Karhunen V, Kleinman A, Levin RZ, Lill CM, Meddens GA, Muntané G, Sanchez-Roige S, Rooij FJV, Taskesen E, Wu Y, Zhang F; 23and Me Research Team; eQTLgen Consortium; International Cannabis Consortium; Social Science Genetic Association Consortium; Auton A, Boardman JD, Clark DW, Conlin A, Dolan CC, Fischbacher U, Groenen PJF, Harris KM, Hasler G, Hofman A, Ikram MA, Jain S, Karlsson R, Kessler RC, Kooyman M, MacKillop J, Männikkö M, Morcillo-Suarez C, McQueen MB, Schmidt KM, Smart MC, Sutter M, Thurik AR, Uitterlinden AG, White J, Wit H, Yang J, Bertram L, Boomsma DI, Esko T, Fehr E, Hinds DA, Johannesson M, Kumari M, Laibson D, Magnusson PKE, Meyer MN, Navarro A, Palmer AA, Pers TH, Posthuma D, Schunk D, Stein MB, Svento R, Tiemeier H, Timmers PRHJ, Turley P, Ursano RJ, Wagner GG, Wilson JF, Gratten J, Lee JJ, Cesarini D, Benjamin DJ, Koellinger PD, Beauchamp JP. Karlsson Linnér R, et al. Nat Genet. 2019 Feb;51(2):245-257. doi: 10.1038/s41588-018-0309-3. Epub 2019 Jan 14. Nat Genet. 2019. PMID: 30643258 Free PMC article.
Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.
Ligthart S, Vaez A, Võsa U, Stathopoulou MG, de Vries PS, Prins BP, Van der Most PJ, Tanaka T, Naderi E, Rose LM, Wu Y, Karlsson R, Barbalic M, Lin H, Pool R, Zhu G, Macé A, Sidore C, Trompet S, Mangino M, Sabater-Lleal M, Kemp JP, Abbasi A, Kacprowski T, Verweij N, Smith AV, Huang T, Marzi C, Feitosa MF, Lohman KK, Kleber ME, Milaneschi Y, Mueller C, Huq M, Vlachopoulou E, Lyytikäinen LP, Oldmeadow C, Deelen J, Perola M, Zhao JH, Feenstra B; LifeLines Cohort Study; Amini M; CHARGE Inflammation Working Group; Lahti J, Schraut KE, Fornage M, Suktitipat B, Chen WM, Li X, Nutile T, Malerba G, Luan J, Bak T, Schork N, Del Greco M F, Thiering E, Mahajan A, Marioni RE, Mihailov E, Eriksson J, Ozel AB, Zhang W, Nethander M, Cheng YC, Aslibekyan S, Ang W, Gandin I, Yengo L, Portas L, Kooperberg C, Hofer E, Rajan KB, Schurmann C, den Hollander W, Ahluwalia TS, Zhao J, Draisma HHM, Ford I, Timpson N, Teumer A, Huang H, Wahl S, Liu Y, Huang J, Uh HW, Geller F, Joshi PK, Yanek LR, Trabetti E, Lehne B, Vozzi D, Verbanck M, Biino G, Saba Y, Meulenbelt I, O'Connell JR, Laakso M, Giulianini F, Magnusson PKE, Ballantyne CM, Hottenga JJ, Montgomery GW, Rivadineira F, Rueedi R, Steri M, Herzi… See abstract for full author list ➔ Ligthart S, et al. Among authors: vozzi d. Am J Hum Genet. 2018 Nov 1;103(5):691-706. doi: 10.1016/j.ajhg.2018.09.009. Am J Hum Genet. 2018. PMID: 30388399 Free PMC article.
47 results