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Page 1
Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.
Teumer A, Li Y, Ghasemi S, Prins BP, Wuttke M, Hermle T, Giri A, Sieber KB, Qiu C, Kirsten H, Tin A, Chu AY, Bansal N, Feitosa MF, Wang L, Chai JF, Cocca M, Fuchsberger C, Gorski M, Hoppmann A, Horn K, Li M, Marten J, Noce D, Nutile T, Sedaghat S, Sveinbjornsson G, Tayo BO, van der Most PJ, Xu Y, Yu Z, Gerstner L, Ärnlöv J, Bakker SJL, Baptista D, Biggs ML, Boerwinkle E, Brenner H, Burkhardt R, Carroll RJ, Chee ML, Chee ML, Chen M, Cheng CY, Cook JP, Coresh J, Corre T, Danesh J, de Borst MH, De Grandi A, de Mutsert R, de Vries APJ, Degenhardt F, Dittrich K, Divers J, Eckardt KU, Ehret G, Endlich K, Felix JF, Franco OH, Franke A, Freedman BI, Freitag-Wolf S, Gansevoort RT, Giedraitis V, Gögele M, Grundner-Culemann F, Gudbjartsson DF, Gudnason V, Hamet P, Harris TB, Hicks AA, Holm H, Foo VHX, Hwang SJ, Ikram MA, Ingelsson E, Jaddoe VWV, Jakobsdottir J, Josyula NS, Jung B, Kähönen M, Khor CC, Kiess W, Koenig W, Körner A, Kovacs P, Kramer H, Krämer BK, Kronenberg F, Lange LA, Langefeld CD, Lee JJ, Lehtimäki T, Lieb W, Lim SC, Lind L, Lindgren CM, Liu J, Loeffler M, Lyytikäinen LP, Mahajan A, Maranville JC, Mascalzoni D, McMullen B, Meisinger C, Meitinger T, Miliku K, Mook-Kanam… See abstract for full author list ➔ Teumer A, et al. Among authors: mascalzoni d. Nat Commun. 2019 Sep 11;10(1):4130. doi: 10.1038/s41467-019-11576-0. Nat Commun. 2019. PMID: 31511532 Free PMC article.
International Genetic Testing and Counseling Practices for Parkinson's Disease.
Saunders-Pullman R, Raymond D, Ortega RA, Shalash A, Gatto E, Salari M, Markgraf M, Alcalay RN, Mascalzoni D, Mencacci NE, Bonifati V, Merello M, Chung SJ, Novakovic I, Bardien S, Pal G, Hall A, Hattori N, Lynch T, Thaler A, Sue CM, Foroud T, Verbrugge J, Schulze J, Cook L, Marder K, Suchowersky O, Klein C, Simuni T. Saunders-Pullman R, et al. Among authors: mascalzoni d. Mov Disord. 2023 Aug;38(8):1527-1535. doi: 10.1002/mds.29442. Epub 2023 Jun 13. Mov Disord. 2023. PMID: 37310233 Free PMC article.
Public Preferences for Digital Health Data Sharing: Discrete Choice Experiment Study in 12 European Countries.
Biasiotto R, Viberg Johansson J, Alemu MB, Romano V, Bentzen HB, Kaye J, Ancillotti M, Blom JMC, Chassang G, Hallinan D, Jónsdóttir GA, Monasterio Astobiza A, Rial-Sebbag E, Rodríguez-Arias D, Shah N, Skovgaard L, Staunton C, Tschigg K, Veldwijk J, Mascalzoni D. Biasiotto R, et al. Among authors: mascalzoni d. J Med Internet Res. 2023 Nov 23;25:e47066. doi: 10.2196/47066. J Med Internet Res. 2023. PMID: 37995125 Free PMC article.
Genetic Testing in Parkinson's Disease.
Pal G, Cook L, Schulze J, Verbrugge J, Alcalay RN, Merello M, Sue CM, Bardien S, Bonifati V, Chung SJ, Foroud T, Gatto E, Hall A, Hattori N, Lynch T, Marder K, Mascalzoni D, Novaković I, Thaler A, Raymond D, Salari M, Shalash A, Suchowersky O, Mencacci NE, Simuni T, Saunders-Pullman R, Klein C. Pal G, et al. Among authors: mascalzoni d. Mov Disord. 2023 Aug;38(8):1384-1396. doi: 10.1002/mds.29500. Epub 2023 Jun 27. Mov Disord. 2023. PMID: 37365908 Free PMC article.
The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives.
Pattaro C, Marroni F, Riegler A, Mascalzoni D, Pichler I, Volpato CB, Dal Cero U, De Grandi A, Egger C, Eisendle A, Fuchsberger C, Gögele M, Pedrotti S, Pinggera GK, Stefanov SA, Vogl FD, Wiedermann CJ, Meitinger T, Pramstaller PP. Pattaro C, et al. Among authors: mascalzoni d. BMC Med Genet. 2007 Jun 5;8:29. doi: 10.1186/1471-2350-8-29. BMC Med Genet. 2007. PMID: 17550581 Free PMC article.
Informed consent in the genomics era.
Mascalzoni D, Hicks A, Pramstaller P, Wjst M. Mascalzoni D, et al. PLoS Med. 2008 Sep 16;5(9):e192. doi: 10.1371/journal.pmed.0050192. PLoS Med. 2008. PMID: 18798689 Free PMC article.
The Cooperative Health Research in South Tyrol (CHRIS) study: rationale, objectives, and preliminary results.
Pattaro C, Gögele M, Mascalzoni D, Melotti R, Schwienbacher C, De Grandi A, Foco L, D'Elia Y, Linder B, Fuchsberger C, Minelli C, Egger C, Kofink LS, Zanigni S, Schäfer T, Facheris MF, Smárason SV, Rossini A, Hicks AA, Weiss H, Pramstaller PP. Pattaro C, et al. Among authors: mascalzoni d, d elia y. J Transl Med. 2015 Nov 5;13:348. doi: 10.1186/s12967-015-0704-9. J Transl Med. 2015. PMID: 26541195 Free PMC article.
Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function.
Wild PS, Felix JF, Schillert A, Teumer A, Chen MH, Leening MJG, Völker U, Großmann V, Brody JA, Irvin MR, Shah SJ, Pramana S, Lieb W, Schmidt R, Stanton AV, Malzahn D, Smith AV, Sundström J, Minelli C, Ruggiero D, Lyytikäinen LP, Tiller D, Smith JG, Monnereau C, Di Tullio MR, Musani SK, Morrison AC, Pers TH, Morley M, Kleber ME, Aragam J, Benjamin EJ, Bis JC, Bisping E, Broeckel U, Cheng S, Deckers JW, Del Greco M F, Edelmann F, Fornage M, Franke L, Friedrich N, Harris TB, Hofer E, Hofman A, Huang J, Hughes AD, Kähönen M, Investigators K, Kruppa J, Lackner KJ, Lannfelt L, Laskowski R, Launer LJ, Leosdottir M, Lin H, Lindgren CM, Loley C, MacRae CA, Mascalzoni D, Mayet J, Medenwald D, Morris AP, Müller C, Müller-Nurasyid M, Nappo S, Nilsson PM, Nuding S, Nutile T, Peters A, Pfeufer A, Pietzner D, Pramstaller PP, Raitakari OT, Rice KM, Rivadeneira F, Rotter JI, Ruohonen ST, Sacco RL, Samdarshi TE, Schmidt H, Sharp ASP, Shields DC, Sorice R, Sotoodehnia N, Stricker BH, Surendran P, Thom S, Töglhofer AM, Uitterlinden AG, Wachter R, Völzke H, Ziegler A, Münzel T, März W, Cappola TP, Hirschhorn JN, Mitchell GF, Smith NL, Fox ER, Dueker ND, Jaddoe VWV, Melander O, Russ M, Lehtimäk… See abstract for full author list ➔ Wild PS, et al. Among authors: mascalzoni d. J Clin Invest. 2017 May 1;127(5):1798-1812. doi: 10.1172/JCI84840. Epub 2017 Apr 10. J Clin Invest. 2017. PMID: 28394258 Free PMC article. Clinical Trial.
Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.
Teumer A, Chaker L, Groeneweg S, Li Y, Di Munno C, Barbieri C, Schultheiss UT, Traglia M, Ahluwalia TS, Akiyama M, Appel EVR, Arking DE, Arnold A, Astrup A, Beekman M, Beilby JP, Bekaert S, Boerwinkle E, Brown SJ, De Buyzere M, Campbell PJ, Ceresini G, Cerqueira C, Cucca F, Deary IJ, Deelen J, Eckardt KU, Ekici AB, Eriksson JG, Ferrrucci L, Fiers T, Fiorillo E, Ford I, Fox CS, Fuchsberger C, Galesloot TE, Gieger C, Gögele M, De Grandi A, Grarup N, Greiser KH, Haljas K, Hansen T, Harris SE, van Heemst D, den Heijer M, Hicks AA, den Hollander W, Homuth G, Hui J, Ikram MA, Ittermann T, Jensen RA, Jing J, Jukema JW, Kajantie E, Kamatani Y, Kasbohm E, Kaufman JM, Kiemeney LA, Kloppenburg M, Kronenberg F, Kubo M, Lahti J, Lapauw B, Li S, Liewald DCM; Lifelines Cohort Study; Lim EM, Linneberg A, Marina M, Mascalzoni D, Matsuda K, Medenwald D, Meisinger C, Meulenbelt I, De Meyer T, Meyer Zu Schwabedissen HE, Mikolajczyk R, Moed M, Netea-Maier RT, Nolte IM, Okada Y, Pala M, Pattaro C, Pedersen O, Petersmann A, Porcu E, Postmus I, Pramstaller PP, Psaty BM, Ramos YFM, Rawal R, Redmond P, Richards JB, Rietzschel ER, Rivadeneira F, Roef G, Rotter JI, Sala CF, Schlessinger D, Selvin E, S… See abstract for full author list ➔ Teumer A, et al. Among authors: mascalzoni d. Nat Commun. 2018 Oct 26;9(1):4455. doi: 10.1038/s41467-018-06356-1. Nat Commun. 2018. PMID: 30367059 Free PMC article.
Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly.
Domingues FS, König E, Schwienbacher C, Volpato CB, Picard A, Cantaloni C, Mascalzoni D, Lackner P, Heimbach A, Hoffmann P, Stanzial F, Hicks AA, Parmeggiani L, Benedicenti F, Pellegrin S, Casara G, Pramstaller PP. Domingues FS, et al. Among authors: mascalzoni d. Seizure. 2019 Mar;66:81-85. doi: 10.1016/j.seizure.2018.12.021. Epub 2018 Dec 23. Seizure. 2019. PMID: 30818181 Free article.
71 results