Now showing items 345-364 of 424

    • Population isolates in South Tyrol and their value for genetic dissection of complex diseases 

      Marroni F; Pichler I; De Grandi A; Volpato CB; Vogl FD; Pinggera GK; Bailey-Wilson JE; Pramstaller PP (2006)
      The study of genetic isolates is a promising approach for the study of complex genetic traits. The small and constant population size, lack of migration, and multiple relationships between individuals in the isolate ...
    • PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity 

      vvan Setten J; Brody JA; Jamshidi Y; Swenson BR; Butler AM; Campbell H; Del Greco M F; Evans DS; Gibson Q; Gudbjartsson DF; Kerr KF; Krijthe BP; Lyytikäinen LP; Müller C; Müller-Nurasyid M; Nolte IM; Padmanabhan S; Ritchie MD; Robino A; Smith AV; Steri M; Tanaka T; Teumer A; Trompet S; Ulivi S; Verweij N; Yin X; Arnar DO; Asselbergs FW; Bader JS; Barnard J; Bis J; Blankenberg S; Boerwinkle E; Bradford Y; Buckley BM; Chung MK; Crawford D; den Hoed M; Denny JC; Dominiczak AF; Ehret GB; Eijgelsheim M; Ellinor PT; Felix SB; Franco OH; Franke L; Harris TB; Holm H; Ilaria G; Iorio A; Kähönen M; Kolcic I; Kors JA; Lakatta EG; Launer LJ; Lin H; Lin HJ; Loos RJF; Lubitz SA; Macfarlane PW; Magnani JW; Leach IM; Meitinger T; Mitchell BD; Munzel T; Papanicolaou GJ; Peters A; Pfeufer A; Pramstaller PP; Raitakari OT; Rotter JI; Rudan I; Samani NJ; Schlessinger D; Silva Aldana CT; Sinner MF; Smith JD; Snieder H; Soliman EZ; Spector TD; Stott DJ; Strauch K; Tarasov KV; Thorsteinsdottir U; Uitterlinden AG; Van Wagoner DR; Völker U; Völzke H; Waldenberger M; Jan Westra H; Wild PS; Zeller T; Alonso A; Avery CL; Bandinelli S; Benjamin EJ; Cucca F; Dörr M; Ferrucci L; Gasparini P; Gudnason V; Hayward C; Heckbert SR; Hicks AA; Jukema JW; Kääb S; Lehtimäki T; Liu Y; Munroe PB; Parsa A; Polasek O; Psaty BM; Roden DM; Schnabel RB; Sinagra G; Stefansson K; Stricker BH; van der Harst P; van Duijn CM; Wilson JF; Gharib SA; de Bakker PIW; Isaacs A; Arking DE; Sotoodehnia N (2018)
      Electrocardiographic PR interval measures atrio-ventricular depolarization and conduction, and abnormal PR interval is a risk factor for atrial fibrillation and heart block. Our genome-wide association study of over 92,000 ...
    • Practical barriers and ethical challenges in genetic data sharing 

      Simpson CL; Goldenberg AJ; Culverhouse R; Daley D; Igo RP; Jarvik GP; Mandal DM; Mascalzoni D; Montgomery CG; Pierce B; Plaetke R; Shete S; Goddard KA; Stein CM (2014)
      The underlying ethos of dbGaP is that access to these data by secondary data analysts facilitates advancement of science. NIH has required that genome-wide association study data be deposited in the Database of Genotypes ...
    • Pre-analytic evaluation of volumetric absorptive microsampling and integration in a mass spectrometry-based metabolomics workflow 

      Volani C; Caprioli G; Calderisi G; Sigurdsson BB; Rainer J; Gentilini I; Hicks AA; Pramstaller PP; Weiss G; Smarason SV; Paglia G (2017)
      Volumetric absorptive microsampling (VAMS) is a novel approach that allows single-drop (10 μL) blood collection. Integration of VAMS with mass spectrometry (MS)-based untargeted metabolomics is an attractive solution for ...
    • Predicting interactions between T cell receptors and MHC-peptide complexes 

      Roomp K; Domingues FS (2011)
      Conserved interactions between T cell receptors (TCRs) and major histocompatibility complex (MHC) proteins with bound peptide antigens are not well understood. In order to gain a better understanding of the interaction ...
    • Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease? 

      Hedrich K; Pramstaller PP; Stübke K; Hiller A; Kabakci K; Purmann S; Kasten M; Scaglione C; Schwinger E; Volkmann J; Kostic V; Vieregge P; Martinelli P; Abbruzzese G; Klein C; Zühlke C (2005)
      Premutations in the FMR1 gene may be associated with some cases of parkinsonism. To test this hypothesis, we determined the CGG repeat number in FMR1 in 673 individuals with and without parkinsonism and detected 3 premutation ...
    • The prevalence of metabolic syndrome and metabolically healthy obesity in Europe: a collaborative analysis of ten large cohort studies 

      van Vliet-Ostaptchouk JV; Nuotio ML; Slagter SN; Doiron D; Fischer K; Foco L; Gaye A; Gögele M; Heier M; Hiekkalinna T; Joensuu A; Newby C; Pang C; Partinen E; Reischl E; Schwienbacher C; Tammesoo ML; Swertz MA; Burton P; Ferretti V; Fortier I; Giepmans L; Harris JR; Hillege HL; Holmen J; Jula A; Kootstra-Ros JE; Kvaløy K; Holmen TL; Männistö S; Metspalu A; Midthjell K; Murtagh MJ; Peters A; Pramstaller PP; Saaristo T; Salomaa V; Stolk RP; Uusitupa M; van der Harst P; van der Klauw MM; Waldenberger M; Perola M; Wolffenbuttel BH (2014)
      BACKGROUND: Not all obese subjects have an adverse metabolic profile predisposing them to developing type 2 diabetes or cardiovascular disease. The BioSHaRE-EU Healthy Obese Project aims to gain insights into the consequences ...
    • Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2 

      Grütz K; Volpato CB; Domingo A; Alvarez-Fischer D; Gebert U; Schifferle G; Buffone E; Wszolek ZK; Rademakers R; Ferbert A; Hicks AA; Klein C; Pramstaller PP; Westenberger A (2016)
      BACKGROUND: Linkage analyses of families with primary familial brain calcification (formerly idiopathic basal ganglia calcification [IBGC]) identified 3 candidate loci (IBGC1-3). Recently, SLC20A2 mutations were found in ...
    • A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape 

      Ried JS; Jeff M J; Chu AY; Bragg-Gresham JL; van Dongen J; Huffman JE; Ahluwalia TS; Cadby G; Eklund N; Eriksson J; Esko T; Feitosa MF; Goel A; Gorski M; Hayward C; Heard-Costa NL; Jackson AU; Jokinen E; Kanoni S; Kristiansson K; Kutalik Z; Lahti J; Luan J; Mägi R; Mahajan A; Mangino M; Medina-Gomez C; Monda KL; Nolte IM; Pérusse L; Prokopenko I; Qi L; Rose LM; Salvi E; Smith MT; Snieder H; Stančáková A; Ju Sung Y; Tachmazidou I; Teumer A; Thorleifsson G; van der Harst P; Walker RW; Wang SR; Wild SH; Willems SM; Wong A; Zhang W; Albrecht E; Couto Alves A; Bakker SJ; Barlassina C; Bartz TM; Beilby J; Bellis C; Bergman RN; Bergmann S; Blangero J; Blüher M; Boerwinkle E; Bonnycastle LL; Bornstein SR; Bruinenberg M; Campbell H; Chen YI; Chiang CW; Chines PS; Collins FS; Cucca F; Cupples LA; D'Avila F; de Geus EJ; Dedoussis G; Dimitriou M; Döring A; Eriksson JG; Farmaki AE; Farrall M; Ferreira T; Fischer K; Forouhi NG; Friedrich N; Gjesing AP; Glorioso N; Graff M; Grallert H; Grarup N; Gräßler J; Grewal J; Hamsten A; Harder MN; Hartman CA; Hassinen M; Hastie N; Hattersley AT; Havulinna AS; Heliövaara M; Hillege H; Hofman A; Holmen O; Homuth G; Hottenga JJ; Hui J; Husemoen LL; Hysi PG; Isaacs A; Ittermann T; Jalilzadeh S; James AL; Jørgensen T; Jousilahti P; Jula A; Marie Justesen J; Justice AE; Kähönen M; Karaleftheri M; Tee Khaw K; Keinanen-Kiukaanniemi SM; Kinnunen L; Knekt PB; Koistinen HA; Kolcic I; Kooner IK; Koskinen S; Kovacs P; Kyriakou T; Laitinen T; Langenberg C; Lewin AM; Lichtner P; Lindgren CM; Lindström J; Linneberg A; Lorbeer R; Lorentzon M; Luben R; Lyssenko V; Männistö S; Manunta P; Leach IM; McArdle WL; Mcknight B; Mohlke KL; Mihailov E; Milani L; Mills R; Montasser ME; Morris AP; Müller G; Musk AW; Narisu N; Ong KK; Oostra BA; Osmond C; Palotie A; Pankow JS; Paternoster L; Penninx BW; Pichler I; Pilia MG; Polašek O; Pramstaller PP; Raitakari OT; Rankinen T; Rao DC; Rayner NW; Ribel-Madsen R; Rice TK; Richards M; Ridker PM; Rivadeneira F; Ryan KA; Sanna S; Sarzynski MA; Scholtens S; Scott RA; Sebert S; Southam L; Sparsø TH; Steinthorsdottir V; Stirrups K; Stolk RP; Strauch K; Stringham HM; Swertz MA; Swift AJ; Tönjes A; Tsafantakis E; van der Most PJ; van Vliet-Ostaptchouk JV; Vandenput L; Vartiainen E; Venturini C; Verweij N; Viikari JS; Vitart V; Vohl MC; Vonk JM; Waeber G; Widén E; Willemsen G; Wilsgaard T; Winkler TW; Wright AF; Yerges-Armstrong LM; Hua Zhao J; Carola Zillikens M; Boomsma DI; Bouchard C; Chambers JC; Chasman DI; Cusi D; Gansevoort RT; Gieger C; Hansen T; Hicks AA; Hu F; Hveem K; Jarvelin MR; Kajantie E; Kooner JS; Kuh D; Kuusisto J; Laakso M; Lakka TA; Lehtimäki T; Metspalu A; Njølstad I; Ohlsson C; Oldehinkel AJ; Palmer LJ; Pedersen O; Perola M; Peters A; Psaty BM; Puolijoki H; Rauramaa R; Rudan I; Salomaa V; Schwarz PE; Shudiner AR; Smit JH; Sørensen TI; Spector TD; Stefansson K; Stumvoll M; Tremblay A; Tuomilehto J; Uitterlinden AG; Uusitupa M; Völker U; Vollenweider P; Wareham NJ; Watkins H; Wilson JF; Zeggini E; Abecasis GR; Boehnke M; Borecki IB; Deloukas P; van Duijn CM; Fox C; Groop LC; Heid IM; Hunter DJ; Kaplan RC; McCarthy MI; North KE; O'Connell JR; Schlessinger D; Thorsteinsdottir U; Strachan DP; Frayling T; Hirschhorn JN; Müller-Nurasyid M; Loos RJ (2016)
      Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a ...
    • Profiling of Parkin-binding partners using tandem affinity purification 

      Zanon A; Rakovic A; Blankenburg H; Doncheva NT; Schwienbacher C; Serafin A; Alexa A; Weichenberger CX; Albrecht M; Klein C; Hicks AA; Pramstaller PP; Domingues FS; Pichler I (2013)
      Parkinson's disease (PD) is a progressive neurodegenerative disorder affecting approximately 1-2% of the general population over age 60. It is characterized by a rather selective loss of dopaminergic neurons in the substantia ...
    • Progressive supranuclear palsy: new disease or variant of postencephalitic parkinsonism? 

      Brusa A; Stoehr R; Pramstaller PP (2004)
      We review the etiological importance of the epidemic encephalitis for progressive supranuclear palsy (PSP) and addresses the question of whether the explosion of PSP literature in the mid-20th century reflects the appearance ...
    • A Prospective Nonrandomized Study on Carotid Surgery Performed under General Anesthesia without Intraoperative Cerebral Monitoring 

      De Santis F; Chaves Brait CM; Pattaro C; Cesareo V; Di Cintio V (2016)
      BACKGROUND: The purpose of this study was to assess our experience of carotid surgery habitually performed under general anesthesia without intraoperative intracerebral monitoring, and following a pre-established perioperative ...
    • Protection of Personal Information Act No. 4 of 2013: Implications for biobanks 

      Staunton C; de Stadler E (2019)
      The Protection of Personal Information Act (POPIA) No. 4 of 2013 is the first comprehensive data-protection regulation to be passed in South Africa (SA). Its objectives include giving effect to the constitutional right to ...
    • Pure akinesia as initial presentation of PSP: a clinicopathological study 

      Facheris MF; Maniak S; Scaravilli F; Schüle B; Klein C; Pramstaller PP (2008)
      Pure akinesia (PA) is a rare neurodegenerative condition that may represent a limited expression of progressive supranuclear palsy (PSP). Only a few pathological studies have been reported and its classification remains ...
    • Putative Prostate Cancer Risk SNP in an Androgen Receptor-Binding Site of the Melanophilin Gene Illustrates Enrichment of Risk SNPs in Androgen Receptor Target Sites 

      Bu H; Narisu N; Schlick B; Rainer J; Manke T; Schäfer G; Pasqualini L; Chines P; Schweiger MR; Fuchsberger C; Klocker H (2016)
      Genome-wide association studies have identified genomic loci, whose single-nucleotide polymorphisms (SNPs) predispose to prostate cancer (PCa). However, the mechanisms of most of these variants are largely unknown. We ...
    • Quality control and conduct of genome-wide association meta-analyses 

      Winkler TW; Day FR; Croteau-Chonka DC; Wood AR; Locke AE; Mägi R; Ferreira T; Fall T; Graff M; Justice AE; Luan J; Gustafsson S; Randall JC; Vedantam S; Workalemahu T; Kilpeläinen TO; Scherag A; Esko T; Kutalik Z; Heid IM; Loos RJ; Genetic Investigation of Anthropometric Traits (GIANT) Consortium (2014)
      Rigorous organization and quality control (QC) are necessary to facilitate successful genome-wide association meta-analyses (GWAMAs) of statistics aggregated across multiple genome-wide association studies. This protocol ...
    • The quality of meta-analyses of genetic association studies: a review with recommendations 

      Minelli C; Thompson JR; Abrams KR; Thakkinstian A; Attia J (2009)
      Although there has been a rapid rise in the publication of meta-analyses of genetic association studies, little is known about their methodological quality. The authors reviewed the quality of 120 randomly selected genetic ...
    • Quality of reporting of randomized controlled trials published in Intensive Care Medicine from 2001 to 2010 

      Latronico N; Metelli M; Turin M; Piva S; Rasulo FA; Minelli C (2013)
      PURPOSE: To evaluate the methodological quality of randomized controlled trials (RCTs) published in Intensive Care Medicine from 2001 to 2010, and to compare it with a previous review of RCTs published from 1975 to ...
    • Quantitative time-course metabolomics in human red blood cells reveal the temperature dependence of human metabolic networks 

      Yurkovich JT; Zielinski DC; Yang L; Paglia G; Rolfsson O; Sigurjónsson ÓE; Broddrick JT; Bordbar A; Wichuk K; Brynjólfsson S; Palsson S; Gudmundsson S; Palsson BO (2017)
      The temperature dependence of biological processes has been studied at the levels of individual biochemical reactions and organism physiology (e.g. basal metabolic rates) but has not been examined at the metabolic network ...
    • Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency 

      Thorsteinsdottir M; Thorsteinsdottir UA; Eiriksson FF; Runolfsdottir HL; Agustsdottir IM; Oddsdottir S; Sigurdsson BB; Hardarson HK; Kamble NR; Sigurdsson ST; Edvardsson VO; Palsson R (2016)
      Adenine phosphoribosyltransferase (APRT) deficiency is a hereditary disorder that leads to excessive urinary excretion of 2,8-dihydroxyadenine (DHA), causing nephrolithiasis and chronic kidney disease. Treatment with ...