Now showing items 61-80 of 425

    • Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction 

      Sotoodehnia N; Isaacs A; de Bakker PI; Dörr M; Newton-Cheh C; Nolte IM; van der Harst P; Müller M; Eijgelsheim M; Alonso A; Hicks AA; Padmanabhan S; Hayward C; Smith AV; Polasek O; Giovannone S; Fu J; Magnani JW; Marciante KD; Pfeufer A; Gharib SA; Teumer A; Li M; Bis JC; Rivadeneira F; Aspelund T; Köttgen A; Johnson T; Rice K; Sie MP; Wang YA; Klopp N; Fuchsberger C; Wild SH; Mateo Leach I; Estrada K; Völker U; Wright AF; Asselbergs FW; Qu J; Chakravarti A; Sinner MF; Kors JA; Petersmann A; Harris TB; Soliman EZ; Munroe PB; Psaty BM; Oostra BA; Cupples LA; Perz S; de Boer RA; Uitterlinden AG; Völzke H; Spector TD; Liu FY; Boerwinkle E; Dominiczak AF; Rotter JI; van Herpen G; Levy D; Wichmann HE; van Gilst WH; Witteman JC; Kroemer HK; Kao WH; Heckbert SR; Meitinger T; Hofman A; Campbell H; Folsom AR; van Veldhuisen DJ; Schwienbacher C; O'Donnell CJ; Volpato CB; Caulfield MJ; Connell JM; Launer L; Lu X; Franke L; Fehrmann RS; te Meerman G; Groen HJ; Weersma RK; van den Berg LH; Wijmenga C; Ophoff RA; Navis G; Rudan I; Snieder H; Wilson JF; Pramstaller PP; Siscovick DS; Wang TJ; Gudnason V; van Duijn CM; Felix SB; Fishman GI; Jamshidi Y; Stricker BH; Samani NJ; Kääb S; Arking DE (2010)
      The QRS interval, from the beginning of the Q wave to the end of the S wave on an electrocardiogram, reflects ventricular depolarization and conduction time and is a risk factor for mortality, sudden death and heart failure. ...
    • Common variants in Mendelian kidney disease genes and their association with renal function 

      Parsa A; Fuchsberger C; Köttgen A; O'Seaghdha CM; Pattaro C; de Andrade M; Chasman DI; Teumer A; Endlich K; Olden M; Chen MH; Tin A; Kim YJ; Taliun D; Li M; Feitosa M; Gorski M; Yang Q; Hundertmark C; Foster MC; Glazer N; Isaacs A; Rao M; Smith AV; O'Connell JR; Struchalin M; Tanaka T; Li G; Hwang SJ; Atkinson EJ; Lohman K; Cornelis MC; Johansson A; Tönjes A; Dehghan A; Couraki V; Holliday EG; Sorice R; Kutalik Z; Lehtimäki T; Esko T; Deshmukh H; Ulivi S; Chu AY; Murgia F; Trompet S; Imboden M; Kollerits B; Pistis G; Harris TB; Launer LJ; Aspelund T; Eiriksdottir G; Mitchell BD; Boerwinkle E; Schmidt H; Hofer E; Hu F; Demirkan A; Oostra BA; Turner ST; Ding J; Andrews JS; Freedman BI; Giulianini F; Koenig W; Illig T; Döring A; Wichmann HE; Zgaga L; Zemunik T; Boban M; Minelli C; Wheeler HE; Igl W; Zaboli G; Wild SH; Wright AF; Campbell H; Ellinghaus D; Nöthlings U; Jacobs G; Biffar R; Ernst F; Homuth G; Kroemer HK; Nauck M; Stracke S; Völker U; Völzke H; Kovacs P; Stumvoll M; Mägi R; Hofman A; Uitterlinden AG; Rivadeneira F; Aulchenko YS; Polasek O; Hastie N; Vitart V; Helmer C; Wang JJ; Stengel B; Ruggiero D; Bergmann S; Kähönen M; Viikari J; Nikopensius T; Province M; Colhoun H; Doney A; Robino A; Krämer BK; Portas L; Ford I; Buckley BM; Adam M; Thun GA; Paulweber B; Haun M; Sala C; Mitchell P; Ciullo M; Vollenweider P; Raitakari O; Metspalu A; Palmer C; Gasparini P; Pirastu M; Jukema JW; Probst-Hensch NM; Kronenberg F; Toniolo D; Gudnason V; Shuldiner AR; Coresh J; Schmidt R; Ferrucci L; van Duijn CM; Borecki I; Kardia SL; Liu Y; Curhan GC; Rudan I; Gyllensten U; Wilson JF; Franke A; Pramstaller PP; Rettig R; Prokopenko I; Witteman J; Hayward C; Ridker PM; Bochud M; Heid IM; Siscovick DS; Fox CS; Kao WL; Böger CA (2013)
      Many common genetic variants identified by genome-wide association studies for complex traits map to genes previously linked to rare inherited Mendelian disorders. A systematic analysis of common single-nucleotide polymorphisms ...
    • Common variants in the ATP2B1 gene are associated with susceptibility to hypertension: the Japanese Millennium Genome Project 

      Tabara Y; Kohara K; Kita Y; Hirawa N; Katsuya T; Ohkubo T; Hiura Y; Tajima A; Morisaki T; Miyata T; Nakayama T; Takashima N; Nakura J; Kawamoto R; Takahashi N; Hata A; Soma M; Imai Y; Kokubo Y; Okamura T; Tomoike H; Iwai N; Ogihara T; Inoue I; Tokunaga K; Johnson T; Caulfield M; Munroe P; Global Blood Pressure Genetics Consortium; Umemura S; Ueshima H; Miki T (2010)
      Hypertension is one of the most common complex genetic disorders. We have described previously 38 single nucleotide polymorphisms (SNPs) with suggestive association with hypertension in Japanese individuals. In this study ...
    • Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis 

      Johansson A; Marroni F; Hayward C; Franklin CS; Kirichenko AV; Jonasson I; Hicks AA; Vitart V; Isaacs A; Axenovich T; Campbell S; Dunlop MG; Floyd J; Hastie N; Hofman A; Knott S; Kolcic I; Pichler I; Polasek O; Rivadeneira F; Tenesa A; Uitterlinden AG; Wild SH; Zorkoltseva IV; Meitinger T; Wilson JF; Rudan I; Campbell H; Pattaro C; Pramstaller P; Oostra BA; Wright AF; van Duijn CM; Aulchenko YS; Gyllensten U; EUROSPAN Consortium (2009)
      Genes for height have gained interest for decades, but only recently have candidate genes started to be identified. We have performed linkage analysis and genome-wide association for height in approximately 4000 individuals ...
    • Comparative assessment of different familial aggregation methods in the context of large and unstructured pedigrees 

      Weichenberger CX; Rainer J; Pattaro C; Pramstaller PP; Domingues FS (2019)
      Familial aggregation analysis is an important early step for characterizing the genetic determinants of phenotypes in epidemiological studies. To facilitate this analysis, a collection of methods to detect familial aggregation ...
    • Comparison of participant information and informed consent forms of five European studies in genetic isolated populations 

      Mascalzoni D; Janssens AC; Stewart A; Pramstaller P; Gyllensten U; Rudan I; van Duijn CM; Wilson JF; Campbell H; Quillan RM; EUROSPAN Consortium (2010)
      Family-based research in genetically isolated populations is an effective approach for identifying loci influencing variation in disease traits. In common with all studies in humans, those in genetically isolated populations ...
    • Compensatory premotor activity during affective face processing in subclinical carriers of a single mutant Parkin allele 

      Anders S; Sack B; Pohl A; Münte T; Pramstaller P; Klein C; Binkofski F (2012)
      Patients with Parkinson's disease suffer from significant motor impairments and accompanying cognitive and affective dysfunction due to progressive disturbances of basal ganglia-cortical gating loops. Parkinson's disease ...
    • 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 (2019)
      PURPOSE: Mutations in SZT2 have been previously reported in several cases of early onset epilepsy and intellectual disability. In this study we investigate potential causal mutations in two male siblings affected by early ...
    • Computational assessment of feature combinations for pathogenic variant prediction 

      König E; Rainer J; Domingues FS (2016)
      BACKGROUND: Although several methods have been proposed for predicting the effects of genetic variants and their role in disease, it is still a challenge to identify and prioritize pathogenic variants within sequencing ...
    • 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 (2015)
      The Cooperative Health Research In South Tyrol (CHRIS) study is a population-based study with a longitudinal lookout to investigate the genetic and molecular basis of age-related common chronic conditions and their interaction ...
    • Copy number variation across European populations 

      Chen W; Hayward C; Wright AF; Hicks AA; Vitart V; Knott S; Wild SH; Pramstaller PP; Wilson JF; Rudan I; Porteous DJ (2011)
      Genome analysis provides a powerful approach to test for evidence of genetic variation within and between geographical regions and local populations. Copy number variants which comprise insertions, deletions and duplications ...
    • Copy number variation and association over T-cell receptor genes--influence of DNA source 

      Schwienbacher C; De Grandi A; Fuchsberger C; Facheris MF; Svaldi M; Wjst M; Pramstaller PP; Hicks AA (2010)
      Genomic copy number variants (CNVs) are a common, heritable source of inter-individual differences in genomic sequence. Their influence on phenotypic variability and their involvement in the pathogenesis of several common ...
    • Copy number variation in familial Parkinson disease 

      Pankratz N; Dumitriu A; Hetrick KN; Sun M; Latourelle JC; Wilk JB; Halter C; Doheny KF; Gusella JF; Nichols WC; Myers RH; Foroud T; DeStefano AL; PSG-PROGENI and GenePD Investigators; Coordinators and Molecular Genetic Laboratories (2011)
      Copy number variants (CNVs) are known to cause Mendelian forms of Parkinson disease (PD), most notably in SNCA and PARK2. PARK2 has a recessive mode of inheritance; however, recent evidence demonstrates that a single CNV ...
    • Cryopreservation of Primary Mouse Neurons: The Benefit of Neurostore Cryoprotective Medium 

      Pischedda F; Montani C; Obergasteiger J; Frapporti G; Corti C; Rosato-Siri MD; Volta M; Piccoli G (2018)
      Primary neuronal culture from rodents is a well-established model to investigate cellular neurobiology in vitro. However, for this purpose cell cultures need to be generated expressly, requiring extensive animal handling. ...
    • CUBN is a gene locus for albuminuria 

      Böger CA; Chen MH; Tin A; Olden M; Köttgen A; de Boer IH; Fuchsberger C; O'Seaghdha CM; Pattaro C; Teumer A; Liu CT; Glazer NL; Li M; O'Connell JR; Tanaka T; Peralta CA; Kutalik Z; Luan J; Zhao JH; Hwang SJ; Akylbekova E; Kramer H; van der Harst P; Smith AV; Lohman K; de Andrade M; Hayward C; Kollerits B; Tönjes A; Aspelund T; Ingelsson E; Eiriksdottir G; Launer LJ; Harris TB; Shuldiner AR; Mitchell BD; Arking DE; Franceschini N; Boerwinkle E; Egan J; Hernandez D; Reilly M; Townsend RR; Lumley T; Siscovick DS; Psaty BM; Kestenbaum B; Haritunians T; Bergmann S; Vollenweider P; Waeber G; Mooser V; Waterworth D; Johnson AD; Florez JC; Meigs JB; Lu X; Turner ST; Atkinson EJ; Leak TS; Aasarød K; Skorpen F; Syvänen AC; Illig T; Baumert J; Koenig W; Krämer BK; Devuyst O; Mychaleckyj JC; Minelli C; Bakker SJ; Kedenko L; Paulweber B; Coassin S; Endlich K; Kroemer HK; Biffar R; Stracke S; Völzke H; Stumvoll M; Mägi R; Campbell H; Vitart V; Hastie ND; Gudnason V; Kardia SL; Liu Y; Polasek O; Curhan G; Kronenberg F; Prokopenko I; Rudan I; Arnlöv J; Hallan S; Navis G; CKDGen Consortium; Parsa A; Ferrucci L; Coresh J; Shlipak MG; Bull SB; Paterson NJ; Wichmann HE; Wareham NJ; Loos RJ; Rotter JI; Pramstaller PP; Cupples LA; Beckmann JS; Yang Q; Heid IM; Rettig R; Dreisbach AW; Bochud M; Fox CS; Kao WH (2011)
      Identification of genetic risk factors for albuminuria may alter strategies for early prevention of CKD progression, particularly among patients with diabetes. Little is known about the influence of common genetic variants ...
    • Cytarabine assures a high concentration of circulating CD34+ cells during haematopoietic stem cells mobilization in lymphoma patients 

      Salvadori U; Melotti R; Al-Khaffaf A; Pintimalli M; Daves M; Canzian L; Gentilini I (2017)
      Background Mobilization of haematopoietic stem cells for autologous transplantation in lymphoma patients currently lacks optimal and universally accepted protocol guidelines. Available mobilization procedures use either ...
    • 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 ...
    • Data in question: A survey of European biobank professionals on ethical, legal and societal challenges of biobank research 

      Goisauf M; Gillian M; Bentzen H B; Budin-Ljøsne I; Ursin L; Durnová A; Leitsalu L; Smith K; Casati S; Lavitrano M; Mascalzoni D; Boeckhout M; Mayrhofer MT (2019)
      Biobanks have evolved, and their governance procedures have undergone important transformations. Our paper examines this issue by focusing on the perspective of the professionals working in management or scientific roles ...
    • 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 ...