Now showing items 52-71 of 424

    • Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals 

      Heid IM; Henneman P; Hicks A; Coassin S; Winkler T; Aulchenko YS; Fuchsberger C; Song K; Hivert MF; Waterworth DM; Timpson NJ; Richards JB; Perry JR; Tanaka T; Amin N; Kollerits B; Pichler I; Oostra BA; Thorand B; Frants RR; Illig T; Dupuis J; Glaser B; Spector T; Guralnik J; Egan JM; Florez JC; Evans DM; Soranzo N; Bandinelli S; Carlson OD; Frayling TM; Burling K; Smith GD; Mooser V; Ferrucci L; Meigs JB; Vollenweider P; Dijk KW; Pramstaller P; Kronenberg F; van Duijn CM (2010)
      OBJECTIVE: Plasma adiponectin is strongly associated with various components of metabolic syndrome, type 2 diabetes and cardiovascular outcomes. Concentrations are highly heritable and differ between men and women. We ...
    • Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation 

      Kock N; Kasten M; Schüle B; Hedrich K; Wiegers K; Kabakci K; Hagenah J; Pramstaller PP; Nitschke MF; Münchau A; Sperner J; Klein C (2004)
      Many cases of myoclonus-dystonia (M-D) are caused by mutations in the epsilon-sarcoglycan (SGCE) gene. We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of ...
    • Clinical trials in restless legs syndrome--recommendations of the European RLS Study Group (EURLSSG) 

      Trenkwalder C; Kohnen R; Allen RP; Benes H; Ferini-Strambi L; Garcia-Borreguero D; Hadjigeorgiou GM; Happe S; Högl B; Hornyak M; Klein C; Nass A; Montagna P; Oertel WH; O'Keeffe S; Paulus W; Poewe W; Provini F; Pramstaller PP; Sieminski M; Sonka K; Stiasny-Kolster K; de Weerd A; Wetter TC; Winkelmann J; Zucconi M (2007)
      The European Restless Legs Syndrome (RLS) Study Group (EURLSSG) is an association of European RLS experts who are actively involved in RLS research. A major aim of the Study Group is the development and continuous improvement ...
    • CLOCK gene variants associate with sleep duration in two independent populations 

      Allebrandt KV; Teder-Laving M; Akyol M; Pichler I; Müller-Myhsok B; Pramstaller P; Merrow M; Meitinger T; Metspalu A; Roenneberg T (2010)
      BACKGROUND: Sleep is an active and complex behavior, yet it has two straightforward properties-timing and duration. Clock genes are associated with dysfunctional timing of sleep, mood, and obesity disorders, which are ...
    • Co-occurrence of restless legs syndrome and Parkin mutations in two families 

      Adel S; Djarmati A; Kabakci K; Pichler I; Eskelson C; Lohnau T; Kock N; Hagenah J; Hedrich K; Schwinger E; Kramer PL; Pramstaller PP; Klein C (2006)
      Recent studies have suggested an association between restless legs syndrome (RLS) and Parkinson's disease (PD). We present a large multigenerational family and a smaller family with RLS. A Parkin mutation was found in 10 ...
    • Collaboration to Understand Complex Diseases: Preeclampsia and Adverse Pregnancy Outcomes 

      Roberts JM; Mascalzoni D; Ness RB; Poston L; Global Pregnancy Collaboration (2016)
    • Combination of mouse models and genomewide association studies highlights novel genes associated with human kidney function 

      Jing J; Pattaro C; Hoppmann A; Okada Y; CKDGen Consortium; Fox CS; Köttgen A (2016)
      Genomewide association studies have identified numerous chronic kidney disease-associated genetic variants, but often do not pinpoint causal genes. This limitation was addressed by combining Mouse Genome Informatics ...
    • Common variants associated with plasma triglycerides and risk for coronary artery disease 

      Do R; Willer CJ; Schmidt EM; Sengupta S; Gao C; 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; 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; Altshuler D; 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; Mohlke KL; Ingelsson E; Abecasis GR; Daly MJ; Neale BM; Kathiresan S (2013)
      Triglycerides are transported in plasma by specific triglyceride-rich lipoproteins; in epidemiological studies, increased triglyceride levels correlate with higher risk for coronary artery disease (CAD). However, it is ...
    • Common variants at ten loci modulate the QT interval duration in the QTSCD Study 

      Pfeufer A; Sanna S; Arking DE; Müller M; Gateva V; Fuchsberger C; Ehret GB; Orrú M; Pattaro C; Köttgen A; Perz S; Usala G; Barbalic M; Li M; Pütz B; Scuteri A; Prineas RJ; Sinner MF; Gieger C; Najjar SS; Kao WH; Mühleisen TW; Dei M; Happle C; Möhlenkamp S; Crisponi L; Erbel R; Jöckel KH; Naitza S; Steinbeck G; Marroni F; Hicks AA; Lakatta E; Müller-Myhsok B; Pramstaller PP; Wichmann HE; Schlessinger D; Boerwinkle E; Meitinger T; Uda M; Coresh J; Kääb S; Abecasis GR; Chakravarti A (2009)
      The QT interval, a measure of cardiac repolarization, predisposes to ventricular arrhythmias and sudden cardiac death (SCD) when prolonged or shortened. A common variant in NOS1AP is known to influence repolarization. We ...
    • 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 ...