Now showing items 120-139 of 420

    • 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)
    • FTO genotype is associated with phenotypic variability of body mass index 

      Yang J; Loos RJ; Powell JE; Medland SE; Speliotes EK; Chasman DI; Rose LM; Thorleifsson G; Steinthorsdottir V; Mägi R; Waite L; Smith AV; Yerges-Armstrong LM; Monda KL; Hadley D; Mahajan A; Li G; Kapur K; Vitart V; Huffman JE; Wang SR; Palmer C; Esko T; Fischer K; Zhao JH; Demirkan A; Isaacs A; Feitosa MF; Luan J; Heard-Costa NL; White C; Jackson AU; Preuss M; Ziegler A; Eriksson J; Kutalik Z; Frau F; Nolte IM; van Vliet-Ostaptchouk JV; Hottenga JJ; Jacobs KB; Verweij N; Goel A; Medina-Gomez C; Estrada K; Bragg-Gresham JL; Sanna S; Sidore C; Tyrer J; Teumer A; Prokopenko I; Mangino M; Lindgren CM; Assimes TL; Shuldiner AR; Hui J; Beilby JP; McArdle WL; Hall P; Haritunians T; Zgaga L; Kolcic I; Polasek O; Zemunik T; Oostra BA; Junttila MJ; Grönberg H; Schreiber S; Peters A; Hicks AA; Stephens J; Foad NS; Laitinen J; Pouta A; Kaakinen M; Willemsen G; Vink JM; Wild SH; Navis G; Asselbergs FW; Homuth G; John U; Iribarren C; Harris T; Launer L; Gudnason V; O'Connell JR; Boerwinkle E; Cadby G; Palmer LJ; James AL; Musk AW; Ingelsson E; Psaty BM; Beckmann JS; Waeber G; Vollenweider P; Hayward C; Wright AF; Rudan I; Groop LC; Metspalu A; Khaw KT; van Duijn CM; Borecki IB; Province MA; Wareham NJ; Tardif JC; Huikuri HV; Cupples LA; Atwood LD; Fox CS; Boehnke M; Collins FS; Mohlke KL; Erdmann J; Schunkert H; Hengstenberg C; Stark K; Lorentzon M; Ohlsson C; Cusi D; Staessen JA; van der Klauw MM; Pramstaller PP; Kathiresan S; Jolley JD; Ripatti S; Jarvelin MR; de Geus EJ; Boomsma DI; Penninx B; Wilson JF; Campbell H; Chanock SJ; van der Harst P; Hamsten A; Watkins H; Hofman A; Witteman JC; Zillikens MC; Uitterlinden AG; Rivadeneira F; Kiemeney LA; Vermeulen SH; Abecasis GR; Schlessinger D; Schipf S; Stumvoll M; Tönjes A; Spector TD; North KE; Lettre G; McCarthy MI; Berndt SI; Heath AC; Madden PA; Nyholt DR; Montgomery GW; Martin NG; McKnight B; Strachan DP; Hill WG; Snieder H; Ridker PM; Thorsteinsdottir U; Stefansson K; Frayling TM; Hirschhorn JN; Goddard ME; Visscher PM (2012)
      There is evidence across several species for genetic control of phenotypic variation of complex traits, such that the variance among phenotypes is genotype dependent. Understanding genetic control of variability is important ...
    • The GDPR and the research exemption: considerations on the necessary safeguards for research biobanks. 

      Staunton C; Slokenberga S; Mascalzoni D (2019)
      The General Data Protection Regulation (GDPR) came into force in May 2018. The aspiration of providing for a high level of protection to individuals' personal data risked placing considerable constraints on scientific ...
    • Generation of human induced pluripotent stem cells (EURACi001-A, EURACi002-A, EURACi003-A) from peripheral blood mononuclear cells of three patients carrying mutations in the CAV3 gene 

      Meraviglia V; Benzoni P; Landi S; Murano C; Langione M; Motta BM; Baratto S; Silipigni R; Di Segni M; Pramstaller PP; DiFrancesco D; Gazzerro E; Barbuti A; Rossini A (2018)
      Caveolinopathies are a heterogeneous family of genetic pathologies arising from alterations of the caveolin-3 gene (CAV3), encoding for the isoform specifically constituting muscle caveolae. Here, by reprogramming peripheral ...
    • Generation of Induced Pluripotent Stem Cells from Frozen Buffy Coats using Non-integrating Episomal Plasmids 

      Meraviglia V; Zanon A; Lavdas AA; Schwienbacher C; Silipigni R; Di Segni M; Chen HS; Pramstaller PP; Hicks AA; Rossini A (2015)
      Somatic cells can be reprogrammed into induced pluripotent stem cells (iPSCs) by forcing the expression of four transcription factors (Oct-4, Sox-2, Klf-4, and c-Myc), typically expressed by human embryonic stem cells ...
    • Genes predict village of origin in rural Europe 

      O'Dushlaine C; McQuillan R; Weale ME; Crouch DJ; Johansson A; Aulchenko Y; Franklin CS; Polašek O; Fuchsberger C; Corvin A; Hicks AA; Vitart V; Hayward C; Wild SH; Meitinger T; van Duijn CM; Gyllensten U; Wright AF; Campbell H; Pramstaller PP; Rudan I; Wilson JF (2010)
      The genetic structure of human populations is important in population genetics, forensics and medicine. Using genome-wide scans and individuals with all four grandparents born in the same settlement, we here demonstrate ...