Now showing items 115-134 of 422

    • Exome sequencing in a family with restless legs syndrome 

      Weissbach A; Siegesmund K; Brüggemann N; Schmidt A; Kasten M; Pichler I; Muhle H; Lohmann E; Lohnau T; Schwinger E; Hagenah J; Stephani U; Pramstaller PP; Klein C; Lohmann K (2012)
      BACKGROUND: Restless legs syndrome (RLS) has a high familial aggregation. To date, several loci and genetic risk factors have been identified, but no causative gene mutation has been found. METHODS: We evaluated a German ...
    • An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans 

      Scott RA; Scott LJ; Mägi R; Marullo L; Gaulton KJ; Kaakinen M; Pervjakova N; Pers TH; Johnson AD; Eicher JD; Jackson AU; Ferreira T; Lee Y; Ma C; Steinthorsdottir V; Thorleifsson G; Qi L; Van Zuydam NR; Mahajan A; Chen H; Almgren P; Voight BF; Grallert H; Müller-Nurasyid M; Ried JS; Rayner NW; Robertson N; Karssen LC; van Leeuwen EM; Willems SM; Fuchsberger C; Kwan P; Teslovich TM; Chanda P; Li M; Lu Y; Dina C; Thuillier D; Yengo L; Jiang L; Sparso T; Kestler HA; Chheda H; Eisele L; Gustafsson S; Frånberg M; Strawbridge RJ; Benediktsson R; Hreidarsson AB; Kong A; Sigurðsson G; Kerrison ND; Luan J; Liang L; Meitinger T; Roden M; Thorand B; Esko T; Mihailov E; Fox C; Liu CT; Rybin D; Isomaa B; Lyssenko V; Tuomi T; Couper DJ; Pankow JS; Grarup N; Have CT; Jørgensen ME; Jørgensen T; Linneberg A; Cornelis MC; van Dam RM; Hunter DJ; Kraft P; Sun Q; Edkins S; Owen KR; Perry JRB; Wood AR; Zeggini E; Tajes-Fernandes J; Abecasis GR; Bonnycastle LL; Chines PS; Stringham HM; Koistinen HA; Kinnunen L; Sennblad B; Mühleisen TW; Nöthen MM; Pechlivanis S; Baldassarre D; Gertow K; Humphries SE; Tremoli E; Klopp N; Meyer J; Steinbach G; Wennauer R; Eriksson JG; Mӓnnistö S; Peltonen L; Tikkanen E; Charpentier G; Eury E; Lobbens S; Gigante B; Leander K; McLeod O; Bottinger EP; Gottesman O; Ruderfer D; Blüher M; Kovacs P; Tonjes A; Maruthur NM; Scapoli C; Erbel R; Jöckel KH; Moebus S; de Faire U; Hamsten A; Stumvoll M; Deloukas P; Donnelly PJ; Frayling TM; Hattersley AT; Ripatti S; Salomaa V; Pedersen NL; Boehm BO; Bergman RN; Collins FS; Mohlke KL; Tuomilehto J; Hansen T; Pedersen O; Barroso I; Lannfelt L; Ingelsson E; Lind L; Lindgren CM; Cauchi S; Froguel P; Loos RJF; Balkau B; Boeing H; Franks PW; Barricarte Gurrea A; Palli D; van der Schouw YT; Altshuler D; Groop LC; Langenberg C; Wareham NJ; Sijbrands E; van Duijn CM; Florez JC; Meigs JB; Boerwinkle E; Gieger C; Strauch K; Metspalu A; Morris AD; Palmer CNA; Hu FB; Thorsteinsdottir U; Stefansson K; Dupuis J; Morris AP; Boehnke M; McCarthy MI; Prokopenko I; DIAGRAM Consortium (2017)
      To characterize type 2 diabetes (T2D)-associated variation across the allele frequency spectrum, we conducted a meta-analysis of genome-wide association data from 26,676 T2D case and 132,532 control subjects of European ...
    • Exploring Approaches for Detecting Protein Functional Similarity within an Orthology-based Framework 

      Weichenberger CX; Palermo A; Pramstaller PP; Domingues FS (2017)
      Protein functional similarity based on gene ontology (GO) annotations serves as a powerful tool when comparing proteins on a functional level in applications such as protein-protein interaction prediction, gene prioritization, ...
    • Exploring digenic inheritance in arrhythmogenic cardiomyopathy 

      König E; Volpato CB; Motta BM; Blankenburg H; Picard A; Pramstaller PP; Casella M; Rauhe W; Pompilio G; Meraviglia V; Domingues F; Sommariva E; Rossini A (2017)
      BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is an inherited genetic disorder, characterized by the substitution of heart muscle with fibro-fatty tissue and severe ventricular arrhythmias, often leading to heart failure ...
    • Eye movement disorders are different in Parkin-linked and idiopathic early-onset PD 

      Machner B; Klein C; Sprenger A; Baumbach P; Pramstaller PP; Helmchen C; Heide W (2010)
      OBJECTIVES: Parkin gene mutations are the most common cause of early-onset parkinsonism. Patients with Parkin mutations may be clinically indistinguishable from patients with idiopathic early-onset Parkinson disease (EOPD) ...
    • Factors Affecting Long-Term Results of Above-Knee Femoropopliteal Bypass: A Single-Center Contemporary Study 

      De Santis F; Pattaro C; Mani G; Pramstaller PP; Loreni G; Martini G (2016)
      Abstract INTRODUCTION: The aim of this study was to assess whether individual patients' or bypass characteristics may influence long-term results of prosthetic above-knee femoropopliteal bypasses in patients with ...
    • FamAgg: an R package to evaluate familial aggregation of traits in large pedigrees 

      Rainer J; Taliun D; D'Elia Y; Pattaro C; Domingues FS; Weichenberger CX (2016)
      Familial aggregation analysis is the first fundamental step to perform when assessing the extent of genetic background of a disease. However, there is a lack of software to analyze the familial clustering of complex ...
    • Family-based association study of the restless legs syndrome loci 2 and 3 in a European population 

      Kemlink D; Polo O; Montagna P; Provini F; Stiasny-Kolster K; Oertel W; de Weerd A; Nevsimalova S; Sonka K; Högl B; Frauscher B; Poewe W; Trenkwalder C; Pramstaller PP; Ferini-Strambi L; Zucconi M; Konofal E; Arnulf I; Hadjigeorgiou GM; Happe S; Klein C; Hiller A; Lichtner P; Meitinger T; Müller-Myshok B; Winkelmann J (2007)
      Three loci for the restless legs syndrome (RLS) on chromosomes 12q, 14q, and 9p (RLS1, RLS2, and RLS3) have been mapped, but no gene has been identified as yet. RLS1 has been confirmed in families from three different ...
    • Family-based studies to the rescue of genome-wide association studies in renal function 

      Pattaro C; Saint-Pierre A (2013)
      Contrary to the apparent impossibility of replicating linkage results across studies on renal outcomes, and denying the general difficulty of identifying meaningful association signals under previously identified linkage ...
    • Fast Sampling-Based Whole-Genome Haplotype Block Recognition 

      Taliun D; Gamper J; Leser U; Pattaro C (2016)
      Scaling linkage disequilibrium (LD) based haplotype block recognition to the entire human genome has always been a challenge. The best-known algorithm has quadratic runtime complexity and, even when sophisticated search ...
    • Father absence and depressive symptoms in adolescence: findings from a UK cohort 

      Culpin I; Heron J; Araya R; Melotti R; Joinson C (2013)
      BACKGROUND: Previous studies suggest a link between parental separation or divorce and risk of depression in adolescence. There are, however, few studies that have prospectively examined the effects of timing of biological ...
    • Father absence and timing of menarche in adolescent girls from a UK cohort: the mediating role of maternal depression and major financial problems 

      Culpin I; Heron J; Araya R; Melotti R; Lewis G; Joinson C (2014)
      In a prospective birth cohort study of 5295 girls from the UK-based Avon Longitudinal Study of Parents and Children (ALSPAC), we examined the association between biological father absence in childhood and age at menarche ...
    • Feedback of Individual Genetic Results to Research Participants: Is It Feasible in Europe? 

      Budin-Ljøsne I; Mascalzoni D; Soini S; Machado H; Kaye J; Bentzen HB; Rial-Sebbag E; D'Abramo F; Witt M; Schamps G; Katić V; Krajnovic D; Harris JR (2016)
      BACKGROUND: There is growing consensus that individual genetic research results that are scientifically robust, analytically valid, and clinically actionable should be offered to research participants. However, the general ...
    • Ferric carboxymaltose reduces the number of red blood cell units transfused and allows transfusion independence to be obtained in patients with iron deficiency anemia secondary to gastrointestinal chronic blood loss 

      Salvadori U; Sandri M; Melli C; Polese F; Simeoni M; Capelli S; Al-Khaffaf A (2016)
      BACKGROUND: The aim of this study was to evaluate the effectiveness of ferric carboxymaltose (FCM) in patients with iron deficiency anemia (IDA) secondary to gastrointestinal chronic blood loss (CBL), who received chronic ...
    • Fertility pattern and family structure in three Alpine settlements in South Tyrol (italy): marriage cohorts from 1750 to 1949 

      Gögele M; Pattaro C; Fuchsberger C; Pramstaller PP (2009)
      Stelvio, Martello and Curon, three villages of the Venosta Valley, South Tyrol (Italy), were recently included in a large genetic survey because of their isolation. This study focuses on the long-term reproductive behaviour ...
    • Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes 

      Pichler I; Schwienbacher C; Zanon A; Fuchsberger C; Serafin A; Facheris MF; Marroni F; Pattaro C; Shen Y; Tellgren-Roth C; Gyllensten U; Gusella JF; Hicks AA; Pramstaller PP (2013)
      Restless legs syndrome (RLS) is a sleep-related movement disorder that affects up to 15 % of the population. Linkage studies have identified several genomic loci in single families (12q, 14q, 9p, 2q, 20p and 16p, respectively). ...
    • FlyOde - a platform for community curation and interactive visualization of dynamic gene regulatory networks in Drosophila eye development 

      Koestler SA; Alaybeyoglu B; Weichenberger CX; Celik A (2015)
      MOTIVATION: Understanding the regulatory mechanisms governing eye development of the model organism Drosophila melanogaster (D. m.) requires structured knowledge of the involved genes and proteins, their interactions, and ...
    • Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo 

      Ikram MK; Sim X; Xueling S; Jensen RA; Cotch MF; Hewitt AW; Ikram MA; Wang JJ; Klein R; Klein BE; Breteler MM; Cheung N; Liew G; Mitchell P; Uitterlinden AG; Rivadeneira F; Hofman A; de Jong PT; van Duijn CM; Kao L; Cheng CY; Smith AV; Glazer NL; Lumley T; McKnight B; Psaty BM; Jonasson F; Eiriksdottir G; Aspelund T; Global BPgen Consortium; Harris TB; Launer LJ; Taylor KD; Li X; Iyengar SK; Xi Q; Sivakumaran TA; Mackey DA; Macgregor S; Martin NG; Young TL; Bis JC; Wiggins KL; Heckbert SR; Hammond CJ; Andrew T; Fahy S; Attia J; Holliday EG; Scott RJ; Islam FM; Rotter JI; McAuley AK; Boerwinkle E; Tai ES; Gudnason V; Siscovick DS; Vingerling JR; Wong TY (2010)
      There is increasing evidence that the microcirculation plays an important role in the pathogenesis of cardiovascular diseases. Changes in retinal vascular caliber reflect early microvascular disease and predict incident ...
    • A framework for the investigation of pleiotropy in two-sample summary data Mendelian randomization 

      Bowden J; Del Greco M F; Minelli C; Davey Smith G; Sheehan N; Thompson J (2017)
      Mendelian randomization (MR) uses genetic data to probe questions of causality in epidemiological research, by invoking the Instrumental Variable (IV) assumptions. In recent years, it has become commonplace to attempt MR ...
    • Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers 

      Brüggemann N; Mitterer M; Lanthaler AJ; Djarmati A; Hagenah J; Wiegers K; Winkler S; Pawlack H; Lohnau T; Pramstaller PP; Klein C; Lohmann K (2009)