Now showing items 79-98 of 423

    • Data harmonization and federated analysis of population-based studies: the BioSHaRE project 

      Doiron D; Burton P; Marcon Y; Gaye A; Wolffenbuttel BH; Perola M; Stolk RP; Foco L; Minelli C; Waldenberger M; Holle R; Kvaløy K; Hillege HL; Tassé AM; Ferretti V; Fortier I (2013)
      BACKGROUND: Individual-level data pooling of large population-based studies across research centres in international research projects faces many hurdles. The BioSHaRE (Biobank Standardisation and Harmonisation for Research ...
    • Derivation of human induced pluripotent stem cell line EURACi004-A from skin fibroblasts of a patient with Arrhythmogenic Cardiomyopathy carrying the heterozygous PKP2 mutation c.2569_3018del50 

      Ermon B; Volpato CB; Cattelan G; Silipigni R; Di Segni M; Cantaloni C; Casella M; Pramstaller PP; Pompilio G; Sommariva E; Meraviglia V; Rossini A (2018)
      Arrhythmogenic Cardiomyopathy (ACM) is an inherited cardiac disease characterized by arrhythmias and fibro-fatty replacement in the ventricular myocardium. Causative mutations are mainly reported in desmosomal genes, ...
    • Detecting pleiotropy in Mendelian randomisation studies with summary data and a continuous outcome 

      Greco M FD; Minelli C; Sheehan NA; Thompson JR (2015)
      Mendelian randomisation (MR) estimates causal effects of modifiable phenotypes on an outcome by using genetic variants as instrumental variables, but its validity relies on the assumption of no pleiotropy, that is, genes ...
    • Development of a Pilot Project on Data Sharing among Partners of the Italian Hub of Population Biobanks (HIBP): Association between Lipid Profile and SocioDemographic Variables 

      Napolitano M; Santoro F; Puopolo M; Donfancesco C; Galluzzo L; De Grandi A; Cevenini E; De Curtis A; Sevini F; Palmieri L; Mascalzoni D; Roazzi P; Stazi A; Scafato E; Pramstaller P; Iacoviello L; Donati MB; Giampaoli S; Franceschi C; Belardelli F; Bravo E (2014)
      The Italian Hub of Population Biobanks (HIBP) includes both ongoing and completed studies that are heterogeneous in both their purpose and in the specimens collected. The heterogeneity in starting conditions makes sharing ...
    • Dietary iron loading negatively affects liver mitochondrial function 

      Volani C; Doerrrier C; Demetz E; Haschka D; Paglia G; Lavdas AA; Gnaiger E; Weiss G. (2017)
      Iron is an essential co-factor for several metabolic processes, including mitochondrial respiration, and mitochondria are the major sites of iron-utilization. Cellular iron homeostasis must be tightly regulated, as ...
    • Differential gene expression analysis of ovarian cancer in a population isolate 

      Grazio D; Pichler I; Fuchsberger C; Zolezzi F; Guarnieri P; Heidegger H; Scherer A; Engl B; Messini S; Egarter-Vigl E; Pramstaller PP (2008)
      Gene expression products represent candidate biomarkers with the potential for early screening and therapy of patients with ovarian serous carcinoma. The present study, using patients that originate from the population ...
    • Dintor: functional annotation of genomic and proteomic data 

      Weichenberger CX; Blankenburg H; Palermo A; D'Elia Y; König E; Bernstein E; Domingues FS (2015)
      BACKGROUND: During the last decade, a great number of extremely valuable large-scale genomics and proteomics datasets have become available to the research community. In addition, dropping costs for conducting high-throughput ...
    • Directional dominance on stature and cognition in diverse human populations 

      Joshi PK; Esko T; Mattsson H; Eklund N; Gandin I; Nutile T; Jackson AU; Schurmann C; Smith AV; Zhang W; Okada Y; Stančáková A; Faul JD; Zhao W; Bartz TM; Concas MP; Franceschini N; Enroth S; Vitart V; Trompet S; Guo X; Chasman DI; O'Connel JR; Corre T; Nongmaithem SS; Chen Y; Mangino M; Ruggiero D; Traglia M; Farmaki AE; Kacprowski T; Bjonnes A; van der Spek A; Wu Y; Giri AK; Yanek LR; Wang L; Hofer E; Rietveld CA; McLeod O; Cornelis MC; Pattaro C; Verweij N; Baumbach C; Abdellaoui A; Warren HR; Vuckovic D; Mei H; Bouchard C; Perry JR; Cappellani S; Mirza SS; Benton MC; Broeckel U; Medland SE; Lind PA; Malerba G; Drong A; Yengo L; Bielak LF; Zhi D; van der Most PJ; Shriner D; Mägi R; Hemani G; Karaderi T; Wang Z; Liu T; Demuth I; Zhao JH; Meng W; Lataniotis L; van der Laan SW; Bradfield JP; Wood AR; Bonnefond A; Ahluwalia TS; Hall LM; Salvi E; Yazar S; Carstensen L; de Haan HG; Abney M; Afzal U; Allison MA; Amin N; Asselbergs FW; Bakker SJ; Barr RG; Baumeister SE; Benjamin DJ; Bergmann S; Boerwinkle E; Bottinger EP; Campbell A; Chakravarti A; Chan Y; Chanock SJ; Chen C; Chen YD; Collins FS; Connell J; Correa A; Cupples LA; Smith GD; Davies G; Dörr M; Ehret G; Ellis SB; Feenstra B; Feitosa MF; Ford I; Fox CS; Frayling TM; Friedrich N; Geller F; Scotland G; Gillham-Nasenya I; Gottesman O; Graff M; Grodstein F; Gu C; Haley C; Hammond CJ; Harris SE; Harris TB; Hastie ND; Heard-Costa NL; Heikkilä K; Hocking LJ; Homuth G; Hottenga JJ; Huang J; Huffman JE; Hysi PG; Ikram MA; Ingelsson E; Joensuu A; Johansson Å; Jousilahti P; Jukema JW; Kähönen M; Kamatani Y; Kanoni S; Kerr SM; Khan NM; Koellinger P; Koistinen HA; Kooner MK; Kubo M; Kuusisto J; Lahti J; Launer LJ; Lea RA; Lehne B; Lehtimäki T; Liewald DC; Lind L; Loh M; Lokki ML; London SJ; Loomis SJ; Loukola A; Lu Y; Lumley T; Lundqvist A; Männistö S; Marques-Vidal P; Masciullo C; Matchan A; Mathias RA; Matsuda K; Meigs JB; Meisinger C; Meitinger T; Menni C; Mentch FD; Mihailov E; Milani L; Montasser ME; Montgomery GW; Morrison A; Myers RH; Nadukuru R; Navarro P; Nelis M; Nieminen MS; Nolte IM; O'Connor GT; Ogunniyi A; Padmanabhan S; Palmas WR; Pankow JS; Patarcic I; Pavani F; Peyser PA; Pietilainen K; Poulter N; Prokopenko I; Ralhan S; Redmond P; Rich SS; Rissanen H; Robino A; Rose LM; Rose R; Sala C; Salako B; Salomaa V; Sarin AP; Saxena R; Schmidt H; Scott LJ; Scott WR; Sennblad B; Seshadri S; Sever P; Shrestha S; Smith BH; Smith JA; Soranzo N; Sotoodehnia N; Southam L; Stanton AV; Stathopoulou MG; Strauch K; Strawbridge RJ; Suderman MJ; Tandon N; Tang ST; Taylor KD; Tayo BO; Töglhofer AM; Tomaszewski M; Tšernikova N; Tuomilehto J; Uitterlinden AG; Vaidya D; van Hylckama Vlieg A; van Setten J; Vasankari T; Vedantam S; Vlachopoulou E; Vozzi D; Vuoksimaa E; Waldenberger M; Ware EB; Wentworth-Shields W; Whitfield JB; Wild S; Willemsen G; Yajnik CS; Yao J; Zaza G; Zhu X; BioBank Japan Project; Salem RM; Melbye M; Bisgaard H; Samani NJ; Cusi D; Mackey DA; Cooper RS; Froguel P; Pasterkamp G; Grant SF; Hakonarson H; Ferrucci L; Scott RA; Morris AD; Palmer CN; Dedoussis G; Deloukas P; Bertram L; Lindenberger U; Berndt SI; Lindgren CM; Timpson NJ; Tönjes A; Munroe PB; Sørensen TI; Rotimi CN; Arnett DK; Oldehinkel AJ; Kardia SL; Balkau B; Gambaro G; Morris AP; Eriksson JG; Wright MJ; Martin NG; Hunt SC; Starr JM; Deary IJ; Griffiths LR; Tiemeier H; Pirastu N; Kaprio J; Wareham NJ; Pérusse L; Wilson JG; Girotto G; Caulfield MJ; Raitakari O; Boomsma DI; Gieger C; van der Harst P; Hicks AA; Kraft P; Sinisalo J; Knekt P; Johannesson M; Magnusson PK; Hamsten A; Schmidt R; Borecki IB; Vartiainen E; Becker DM; Bharadwaj D; Mohlke KL; Boehnke M; van Duijn CM; Sanghera DK; Teumer A; Zeggini E; Metspalu A; Gasparini P; Ulivi S; Ober C; Toniolo D; Rudan I; Porteous DJ; Ciullo M; Spector TD; Hayward C; Dupuis J; Loos RJ; Wright AF; Chandak GR; Vollenweider P; Shuldiner AR; Ridker PM; Rotter JI; Sattar N; Gyllensten U; North KE; Pirastu M; Psaty BM; Weir DR; Laakso M; Gudnason V; Takahashi A; Chambers JC; Kooner JS; Strachan DP; Campbell H; Hirschhorn JN; Perola M; Polašek O; Wilson JF (2015)
      Homozygosity has long been associated with rare, often devastating, Mendelian disorders, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness. However, the effect of the more distant ...
    • Discovery and fine mapping of serum protein loci through transethnic meta-analysis 

      Franceschini N; van Rooij FJ; Prins BP; Feitosa MF; Karakas M; Eckfeldt JH; Folsom AR; Kopp J; Vaez A; Andrews JS; Baumert J; Boraska V; Broer L; Hayward C; Ngwa JS; Okada Y; Polasek O; Westra HJ; Wang YA; Del Greco M F; Glazer NL; Kapur K; Kema IP; Lopez LM; Schillert A; Smith AV; Winkler CA; Zgaga L; LifeLines Cohort Study; Bandinelli S; Bergmann S; Boban M; Bochud M; Chen YD; Davies G; Dehghan A; Ding J; Doering A; Durda JP; Ferrucci L; Franco OH; Franke L; Gunjaca G; Hofman A; Hsu FC; Kolcic I; Kraja A; Kubo M; Lackner KJ; Launer L; Loehr LR; Li G; Meisinger C; Nakamura Y; Schwienbacher C; Starr JM; Takahashi A; Torlak V; Uitterlinden AG; Vitart V; Waldenberger M; Wild PS; Kirin M; Zeller T; Zemunik T; Zhang Q; Ziegler A; Blankenberg S; Boerwinkle E; Borecki IB; Campbell H; Deary IJ; Frayling TM; Gieger C; Harris TB; Hicks AA; Koenig W; O' Donnell CJ; Fox CS; Pramstaller PP; Psaty BM; Reiner AP; Rotter JI; Rudan I; Snieder H; Tanaka T; van Duijn CM; Vollenweider P; Waeber G; Wilson JF; Witteman JC; Wolffenbuttel BH; Wright AF; Wu Q; Liu Y; Jenny NS; North KE; Felix JF; Alizadeh BZ; Cupples LA; Perry JR; Morris AP (2012)
      Many disorders are associated with altered serum protein concentrations, including malnutrition, cancer, and cardiovascular, kidney, and inflammatory diseases. Although these protein concentrations are highly heritable, ...
    • Discovery and fine mapping of serum protein loci through transethnic meta-analysis 

      Franceschini N; van Rooij FJ; Prins BP; Feitosa MF; Karakas M; Eckfeldt JH; Folsom AR; Kopp J; Vaez A; Andrews JS; Baumert J; Boraska V; Broer L; Hayward C; Ngwa JS; Okada Y; Polasek O; Westra HJ; Wang YA; Del Greco M F; Glazer NL; Kapur K; Kema IP; Lopez LM; Schillert A; Smith AV; Winkler CA; Zgaga L; LifeLines Cohort Study; Bandinelli S; Bergmann S; Boban M; Bochud M; Chen YD; Davies G; Dehghan A; Ding J; Doering A; Durda JP; Ferrucci L; Franco OH; Franke L; Gunjaca G; Hofman A; Hsu FC; Kolcic I; Kraja A; Kubo M; Lackner KJ; Launer L; Loehr LR; Li G; Meisinger C; Nakamura Y; Schwienbacher C; Starr JM; Takahashi A; Torlak V; Uitterlinden AG; Vitart V; Waldenberger M; Wild PS; Kirin M; Zeller T; Zemunik T; Zhang Q; Ziegler A; Blankenberg S; Boerwinkle E; Borecki IB; Campbell H; Deary IJ; Frayling TM; Gieger C; Harris TB; Hicks AA; Koenig W; O' Donnell CJ; Fox CS; Pramstaller PP; Psaty BM; Reiner AP; Rotter JI; Rudan I; Snieder H; Tanaka T; van Duijn CM; Vollenweider P; Waeber G; Wilson JF; Witteman JC; Wolffenbuttel BH; Wright AF; Wu Q; Liu Y; Jenny NS; North KE; Felix JF; Alizadeh BZ; Cupples LA; Perry JR; Morris AP (2012)
      Many disorders are associated with altered serum protein concentrations, including malnutrition, cancer, and cardiovascular, kidney, and inflammatory diseases. Although these protein concentrations are highly heritable, ...
    • Discovery and refinement of loci associated with lipid levels 

      Global Lipids Genetics Consortium; Willer CJ; Schmidt EM; Sengupta S; Peloso GM; Gustafsson S; Kanoni S; Ganna A; Chen J; Buchkovich ML; Mora S; Beckmann JS; Bragg-Gresham JL; Chang HY; Demirkan A; Den Hertog HM; Do R; Donnelly LA; Ehret GB; Esko T; Feitosa MF; Ferreira T; Fischer K; Fontanillas P; Fraser RM; Freitag DF; Gurdasani D; Heikkilä K; Hyppönen E; Isaacs A; Jackson AU; Johansson A; Johnson T; Kaakinen M; Kettunen J; Kleber ME; Li X; Luan J; Lyytikäinen LP; Magnusson PK; Mangino M; Mihailov E; Montasser ME; Müller-Nurasyid M; Nolte IM; O'Connell JR; Palmer CD; Perola M; Petersen AK; Sanna S; Saxena R; Service SK; Shah S; Shungin D; Sidore C; Song C; Strawbridge RJ; Surakka I; Tanaka T; Teslovich TM; Thorleifsson G; Van den Herik EG; Voight BF; Volcik KA; Waite LL; Wong A; Wu Y; Zhang W; Absher D; Asiki G; Barroso I; Been LF; Bolton JL; Bonnycastle LL; Brambilla P; Burnett MS; Cesana G; Dimitriou M; Doney AS; Döring A; Elliott P; Epstein SE; Eyjolfsson GI; Gigante B; Goodarzi MO; Grallert H; Gravito ML; Groves CJ; Hallmans G; Hartikainen AL; Hayward C; Hernandez D; Hicks AA; Holm H; Hung YJ; Illig T; Jones MR; Kaleebu P; Kastelein JJ; Khaw KT; Kim E; Klopp N; Komulainen P; Kumari M; Langenberg C; Lehtimäki T; Lin SY; Lindström J; Loos RJ; Mach F; McArdle WL; Meisinger C; Mitchell BD; Müller G; Nagaraja R; Narisu N; Nieminen TV; Nsubuga RN; Olafsson I; Ong KK; Palotie A; Papamarkou T; Pomilla C; Pouta A; Rader DJ; Reilly MP; Ridker PM; Rivadeneira F; Rudan I; Ruokonen A; Samani N; Scharnagl H; Seeley J; Silander K; Stancáková A; Stirrups K; Swift AJ; Tiret L; Uitterlinden AG; van Pelt LJ; Vedantam S; Wainwright N; Wijmenga C; Wild SH; Willemsen G; Wilsgaard T; Wilson JF; Young EH; Zhao JH; Adair LS; Arveiler D; Assimes TL; Bandinelli S; Bennett F; Bochud M; Boehm BO; Boomsma DI; Borecki IB; Bornstein SR; Bovet P; Burnier M; Campbell H; Chakravarti A; Chambers JC; Chen YD; Collins FS; Cooper RS; Danesh J; Dedoussis G; de Faire U; Feranil AB; Ferrières J; Ferrucci L; Freimer NB; Gieger C; Groop LC; Gudnason V; Gyllensten U; Hamsten A; Harris TB; Hingorani A; Hirschhorn JN; Hofman A; Hovingh GK; Hsiung CA; Humphries SE; Hunt SC; Hveem K; Iribarren C; Järvelin MR; Jula A; Kähönen M; Kaprio J; Kesäniemi A; Kivimaki M; Kooner JS; Koudstaal PJ; Krauss RM; Kuh D; Kuusisto J; Kyvik KO; Laakso M; Lakka TA; Lind L; Lindgren CM; Martin NG; März W; McCarthy MI; McKenzie CA; Meneton P; Metspalu A; Moilanen L; Morris AD; Munroe PB; Njølstad I; Pedersen NL; Power C; Pramstaller PP; Price JF; Psaty BM; Quertermous T; Rauramaa R; Saleheen D; Salomaa V; Sanghera DK; Saramies J; Schwarz PE; Sheu WH; Shuldiner AR; Siegbahn A; Spector TD; Stefansson K; Strachan DP; Tayo BO; Tremoli E; Tuomilehto J; Uusitupa M; van Duijn CM; Vollenweider P; Wallentin L; Wareham NJ; Whitfield JB; Wolffenbuttel BH; Ordovas JM; Boerwinkle E; Palmer CN; Thorsteinsdottir U; Chasman DI; Rotter JI; Franks PW; Ripatti S; Cupples LA; Sandhu MS; Rich SS; Boehnke M; Deloukas P; Kathiresan S; Mohlke KL; Ingelsson E; Abecasis GR (2013)
      Levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, triglycerides and total cholesterol are heritable, modifiable risk factors for coronary artery disease. To identify new loci ...
    • Distinctive Pattern of Serum Elements During the Progression of Alzheimer’s Disease 

      Paglia G; Miedico O; Cristofano A; Vitale M; Angiolillo A; Chiaravalle AE; Corso G; Di Costanzo A (2016)
      Element profiling is an interesting approach for understanding neurodegenerative processes, considering that compelling evidences show that element toxicity might play a crucial role in the onset and progression of Alzheimer's ...
    • Distinguishing early-onset PD from dopa-responsive dystonia with transcranial sonography 

      Hagenah JM; Hedrich K; Becker B; Pramstaller PP; Seidel G; Klein C (2006)
    • Distribution, type, and origin of Parkin mutations: review and case studies 

      Hedrich K; Eskelson C; Wilmot B; Marder K; Harris J; Garrels J; Meija-Santana H; Vieregge P; Jacobs H; Bressman SB; Lang AE; Kann M; Abbruzzese G; Martinelli P; Schwinger E; Ozelius LJ; Pramstaller PP; Klein C; Kramer P (2004)
      Early-onset Parkinson's disease (PD) has been associated with different mutations in the Parkin gene (PARK2). To study distribution and type of Parkin mutations, we carried out a comprehensive literature review that ...
    • DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease 

      Hedrich K; Djarmati A; Schäfer N; Hering R; Wellenbrock C; Weiss PH; Hilker R; Vieregge P; Ozelius LJ; Heutink P; Bonifati V; Schwinger E; Lang AE; Noth J; Bressman SB; Pramstaller PP; Riess O; Klein C (2004)
      BACKGROUND: Mutations in the Parkin gene (PARK2) are the most commonly identified cause of recessively inherited early-onset Parkinson disease (EOPD) but account for only a portion of cases. DJ-1 (PARK7) was recently ...
    • Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes 

      Pichler I; Fuchsberger C; Platzer C; Calişkan M; Marroni F; Pramstaller PP; Ober C (2010)
      Although the North American Hutterites trace their origins to South Tyrol, no attempts have been made to examine the genetic migration history of the Hutterites before emigrating to the United States in the 1870s. To ...
    • Dynamic Consent: a potential solution to some of the challenges of modern biomedical research 

      Budin-Ljøsne I; Teare HJ; Kaye J; Beck S; Bentzen HB; Caenazzo L; Collett C; D'Abramo F; Felzmann H; Finlay T; Javaid MK; Jones E; Katić V; Simpson A; Mascalzoni D (2017)
      BACKGROUND: Innovations in technology have contributed to rapid changes in the way that modern biomedical research is carried out. Researchers are increasingly required to endorse adaptive and flexible approaches to ...
    • Early DEtection of wEaring off in Parkinson disease: the DEEP study 

      Stocchi F; Antonini A; Barone P; Tinazzi M; Zappia M; Onofrj M; Ruggieri S; Morgante L; Bonuccelli U; Lopiano L; Pramstaller P; Albanese A; Attar M; Posocco V; Colombo D; Abbruzzese G; DEEP study group (2014)
      OBJECTIVE: Assessing the frequency of Wearing-Off (WO) in Parkinson's disease (PD) patients, and its impact on Quality of Life (QoL). METHODS: Consecutive ambulatory patients, who were on dopaminergic treatment for ≥ 1 ...
    • The Effect of Iron Status on Risk of Coronary Artery Disease: A Mendelian Randomization Study 

      Gill D; Del Greco M F; Walker AP; Srai SKS; Laffan MA; Minelli C (2017)
      OBJECTIVE: Iron status is a modifiable trait that has been implicated in cardiovascular disease. This study uses the Mendelian randomization technique to investigate whether there is any causal effect of iron status on ...
    • Effects of gender and aging on differential autonomic responses to orthostatic maneuvers 

      Barantke M; Krauss T; Ortak J; Lieb W; Reppel M; Burgdorf C; Pramstaller PP; Schunkert H; Bonnemeier H (2008)
      BACKGROUND: There are gender differences in heart rate and blood pressure response to postural change. Also, normal aging is often associated with diminished cardiac autonomic modulation during postural change from supine ...