Zobrazeno 1 - 10 of 237 pro vyhledávání: '"Ring SM"'
1
GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI
Autor: Couto Alves, A, De Silva, NMG, Karhunen, V, Sovio, U, Das, S, Taal, HR, Warrington, NM, Lewin, AM, Kaakinen, M, Cousminer, DL, Thiering, E, Timpson, NJ, Bond, TA, Lowry, E, Brown, CD, Estivill, X, Lindi, V, Bradfield, JP, Geller, F, Speed, D, Coin, LJM, Loh, M, Barton, SJ, Beilin, LJ, Bisgaard, H, Bønnelykke, K, Alili, R, Hatoum, IJ, Schramm, K, Cartwright, R, Charles, M, Salerno, V, Clément, K, Claringbould, AAJ, BIOS Consortium, van Duijn, CM, Moltchanova, E, Eriksson, JG, Elks, C, Feenstra, B, Flexeder, C, Franks, S, Frayling, TM, Freathy, RM, Elliott, P, Widén, E, Hakonarson, H, Hattersley, AT, Rodriguez, A, Banterle, M, Heinrich, J, Heude, B, Holloway, JW, Hofman, A, Hyppönen, E, Inskip, H, Kaplan, LM, Hedman, AK, Läärä, E, Prokisch, H, Grallert, H, Lakka, TA, Lawlor, DA, Melbye, M, Ahluwalia, TS, Marinelli, M, Millwood, IY, Palmer, LJ, Pennell, CE, Perry, JR, Ring, SM, Savolainen, MJ, Rivadeneira, F, Standl, M, Sunyer, J, Tiesler, CMT, Uitterlinden, AG, Schierding, W, O’Sullivan, JM, Prokopenko, I, Herzig, K, Smith, GD, O'Reilly, P, Felix, JF, Buxton, JL, Blakemore, AIF, Ong, KK, Jaddoe, VWV, Grant, SFA, Sebert, S, McCarthy, MI, Järvelin, M., Early Growth Genetics (EGG) Consortium
Publikováno v: Science Advances
Copyright © 2019 The Authors. Early childhood growth patterns are associated with adult health, yet the genetic factors and the developmental stages involved are not fully understood. Here, we combine genome-wide association studies with modeling of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c10978d62a197230afd68f4b4b8d7adf
https://researchonline.lshtm.ac.uk/id/eprint/4654552/1/eaaw3095.full.pdf
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2
TRPA1 gene polymorphisms and childhood asthma
Autor: Gallo, V, Dijk, FN, Holloway, JW, Ring, SM, Koppelman, GH, Postma, DS, Strachan, DP, Granell, R, Jongste, Johan, Jaddoe, Vincent, den Dekker, Martijn, Duijts, Liesbeth, Henderson, AJ, Shaheen, SO
Publikováno v: Pediatric Allergy and Immunology
Pediatric Allergy and Immunology, 28(2), 191-198. Wiley
Gallo, V, Dijk, F N, Holloway, J W, Ring, S M, Koppelman, G H, Postma, D S, Strachan, D P, Granell, R, de Jongste, J C, Jaddoe, V W V, den Dekker, H T, Duijts, L, Henderson, A J W & Shaheen, S O 2017, ' TRPA1 gene polymorphisms and childhood asthma ', Pediatric Allergy and Immunology, vol. 28, no. 2, pp. 191-198 . https://doi.org/10.1111/pai.12673
Pediatric Allergy and Immunology, 28(2), 191-198. Blackwell Publishing
BackgroundAnimal data have suggested that the transient receptor potential ankyrin-1 (TRPA1) ion channel plays a key role in promoting airway inflammation in asthma and may mediate effects of paracetamol on asthma, yet confirmatory human data are lac
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3
Correction: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
Autor: Gormley, P, Anttila, V, Winsvold, BS, Palta, P, Esko, T, Pers, TH, Farh, KH, Cuenca-Leon, E, Muona, M, Furlotte, NA, Kurth, T, Ingason, A, McMahon, G, Ligthart, L, Terwindt, GM, Kallela, M, Freilinger, TM, Ran, C, Gordon, SG, Stam, AH, Steinberg, S, Borck, G, Koiranen, M, Quaye, L, Adams, HHH, Lehtimäki, T, Sarin, AP, Wedenoja, J, Hinds, DA, Buring, JE, Schürks, M, Ridker, PM, Gudlaug Hrafnsdottir, M, Stefansson, H, Ring, SM, Hottenga, JJ, Penninx, BWJH, Färkkilä, M, Artto, V, Kaunisto, M, Vepsäläinen, S, Malik, R, Heath, AC, Madden, PAF, Martin, NG, Montgomery, GW, Kurki, MI, Kals, M, Mägi, R, Pärn, K, Hämäläinen, E, Huang, H, Byrnes, AE, Franke, L, Huang, J, Stergiakouli, E, Lee, PH, Sandor, C, Webber, C, Cader, Z, Muller-Myhsok, B, Schreiber, S, Meitinger, T, Eriksson, JG, Salomaa, V, Heikkilä, K, Loehrer, E, Uitterlinden, AG, Hofman, A, Van Duijn, CM, Cherkas, L, Pedersen, LM, Stubhaug, A, Nielsen, CS, Männikkö, M, Mihailov, E, Milani, L, Göbel, H, Esserlind, AL, Francke Christensen, A, Folkmann Hansen, T, Werge, T, Kaprio, J, Aromaa, AJ, Raitakari, O, Arfan Ikram, M, Spector, T, Järvelin, MR, Metspalu, A, Kubisch, C, Strachan, DP, Ferrari, MD, Belin, AC, Dichgans, M, Wessman, M, Van den Maagdenberg, AMJM, Zwart, JA, Boomsma, DI, Davey Smith, G
In the version of this article initially published online, the affiliations for Bertram Muller-Myhsok and Patricia Pozo-Rosich were incorrect or incomplete. These errors have been corrected for the print, PDF and HTML versions of this article.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1032::c1d43033be67033008e6efd4d4b0097e
http://hdl.handle.net/10044/1/85207
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5
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants
Autor: Burton, PR, Clayton, DG, Cardon, LR, Craddock, N, Deloukas, P, Duncanson, A, Kwiatkowski, DP, McCarthy, MI, Ouwehand, WH, Samani, NJ, Todd, JA, Donnelly, P, Barrett, JC, Davison, D, Easton, D, Evans, DM, Leung, HT, Marchini, JL, Morris, AP, Spencer, CC, Tobin, MD, Attwood, AP, Boorman, JP, Cant, B, Everson, U, Hussey, JM, Jolley, JD, Knight, AS, Koch, K, Meech, E, Nutland, S, Prowse, CV, Stevens, HE, Taylor, NC, Walters, GR, Walker, NM, Watkins, NA, Winzer, T, Jones, RW, McArdle, WL, Ring, SM, Strachan, DP, Pembrey, M, Breen, G, St Clair, D, Caesar, S, Gordon-Smith, K, Jones, L, Fraser, C, Green, EK, Grozeva, D, Hamshere, ML, Holmans, PA, Jones, IR, Kirov, G, Moskivina, V, Nikolov, I, O'Donovan, MC, Owen, MJ, Collier, DA, Elkin, A, Farmer, A, Williamson, R, McGuffin, P, Young, AH, Ferrier, IN, Ball, SG, Balmforth, AJ, Barrett, JH, Bishop, TD, Iles, MM, Maqbool, A, Yuldasheva, N, Hall, AS, Braund, PS, Dixon, RJ, Mangino, M, Stevens, S, Thompson, JR, Bredin, F, Tremelling, M, Parkes, M, Drummond, H, Lees, CW, Nimmo, ER, Satsangi, J, Fisher, SA, Forbes, A, Lewis, CM, Onnie, CM, Prescott, NJ, Sanderson, J, Matthew, CG, Barbour, J, Mohiuddin, MK, Todhunter, CE, Mansfield, JC, Ahmad, T, Cummings, FR, Jewell, DP, Webster, J, Brown, MJ, Lathrop, MG, Connell, J, Dominiczak, A, Marcano, CA, Burke, B, Dobson, R, Gungadoo, J, Lee, KL, Munroe, PB, Newhouse, SJ, Onipinla, A, Wallace, C, Xue, M, Caulfield, M, Farrall, M, Barton, A, Bruce, IN, Donovan, H, Eyre, S, Gilbert, PD, Hilder, SL, Hinks, AM, John, SL, Potter, C, Silman, AJ, Symmons, DP, Thomson, W, Worthington, J, Dunger, DB, Widmer, B, Frayling, TM, Freathy, RM, Lango, H, Perry, JR, Shields, BM, Weedon, MN, Hattersley, AT, Hitman, GA, Walker, M, Elliott, KS, Groves, CJ, Lindgren, CM, Rayner, NW, Timpson, NJ, Zeggini, E, Newport, M, Sirugo, G, Lyons, E, Vannberg, F, Hill, AV, Bradbury, LA, Farrar, C, Pointon, JJ, Wordsworth, P, Brown, MA, Franklyn, JA, Heward, JM, Simmonds, MJ, Gough, SC, Seal, S, Stratton, MR, Rahman, N, Ban, M, Goris, A, Sawcer, SJ, Compston, A, Conway, D, Jallow, M, Rockett, KA, Bumpstead, SJ, Chaney, A, Downes, K, Ghori, MJ, Gwilliam, R, Hunt, SE, Inouye, M, Keniry, A, King, E, McGinnis, R, Potter, S, Ravindrarajah, R, Whittaker, P, Widden, C, Withers, D, Cardin, NJ, Ferreira, T, Pereira-Gale, J, Hallgrimsdo'ttir, IB, Howie, BN, Su, Z, Teo, YY, Vukcevic, D, Bentley, D, Mitchell, SL, Newby, PR, Brand, OJ, Carr-Smith, J, Pearce, SH, Reveille, JD, Zhou, X, Sims, AM, Dowling, A, Taylor, J, Doan, T, Davis, JC, Savage, L, Ward, MM, Learch, TL, Weisman, MH, Brown, M
Publikováno v: Burton, P R, Clayton, D G, Cardon, L R, Craddock, N, Deloukas, P, Duncanson, A, Kwiatkowski, D P, McCarthy, M I, Ouwehand, W H, Samani, N J, Todd, J A, Donnelly, P, Barrett, J C, Davison, D, Easton, D, Evans, D M, Leung, H-T, Marchini, J L, Morris, A P, Spencer, C C A, Tobin, M D, Attwood, A P, Boorman, J P, Cant, B, Everson, U, Hussey, J M, Jolley, J D, Knight, A S, Koch, K, Meech, E, Nutland, S, Prowse, C V, Stevens, H E, Taylor, N C, Walters, G R, Walker, N M, Watkins, N A, Winzer, T, Jones, R W, McArdle, W L, Ring, S M, Strachan, D P, Pembrey, M, Breen, G, St Clair, D, Caesar, S, Drummond, H, Lees, C W & Nimmo, E R & Satsangi, J 2007, ' Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants ', Nature Genetics, vol. 39, no. 11, pp. 1329-37 . https://doi.org/10.1038/ng.2007.17
We have genotyped 14,436 nonsynonymous SNPs (nsSNPs) and 897 major histocompatibility complex (MHC) tag SNPs from 1,000 independent cases of ankylosing spondylitis (AS), autoimmune thyroid disease (AITD), multiple sclerosis (MS) and breast cancer (BC
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4eb0ae488030d93095bbd731921effd4
https://doi.org/10.1038/ng.2007.17
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6
Association of genetic Loci with glucose levels in childhood and adolescence: a meta-analysis of over 6,000 children
Autor: Barker, A, Sharp, SJ, Timpson, NJ, Bouatia-Naji, N, Warrington, NM, Kanoni, S, Beilin, LJ, Brage, S, Deloukas, P, Evans, DM, Grontved, A, Hassanali, N, Lawlor, DA, Lecoeur, C, Loos, RJ, Lye, SJ, McCarthy, MI, Mori, TA, Ndiaye, NC, Newnham, JP, Ntalla, I, Pennell, CE, St Pourcain, B, Prokopenko, I, Ring, SM, Sattar, N, Visvikis-Siest, S, Dedoussis, GV, Palmer, LJ, Froguel, P, Smith, GD, Ekelund, U, Wareham, NJ, Langenberg, C
Publikováno v: Diabetes; Vol 60
Diabetes
Barker, A, Sharp, S J, Timpson, N J, Bouatia-Naji, N, Warrington, N M, Kanoni, S, Beilin, L J, Brage, S, Deloukas, P, Evans, D M, Grontved, A, Hassanali, N, Lawlor, D A, Lecoeur, C, Loos, R J F, Lye, S J, McCarthy, M I, Mori, T A, Ndiaye, N C, Newnham, J P, Ntalla, I, Pennell, C E, St Pourcain, B, Prokopenko, I, Ring, S M, Sattar, N, Visvikis-Siest, S, Dedoussis, G V, Pahner, L J, Froguel, P, Smith, G D, Ekelund, U, Wareham, N J & Langenberg, C 2011, ' Association of Genetic Loci With Glucose Levels in Childhood and Adolescence A Meta-Analysis of Over 6,000 Children ', Diabetes, vol. 60, no. 6, pp. 1805-1812 . https://doi.org/10.2337/db10-1575
OBJECTIVE-To investigate whether associations of common genetic variants recently identified for fasting glucose or insulin levels in nondiabetic adults are detectable in healthy children and adolescents. RESEARCH DESIGN AND METHODS-A total of 16 sin
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a84719744235d8ec52f6d9dbd1ef90bc
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7
A Genome-Wide Association Meta-Analysis of Attention-Deficit/Hyperactivity Disorder Symptoms in Population-Based Pediatric Cohorts
Autor: Middeldorp CM, Hammerschlag AR, Ouwens KG, Groen-Blokhuis MM, St Pourcain B, Greven CU, Pappa I, Tiesler CM, Ang W, Nolte IM, Vilor-Tejedor N, Bacelis J, Ebejer JL, Zhao H, Davies GE, Ehli EA, Evans DM, Fedko IO, Guxens M, Hottenga JJ, Hudziak JJ, Jugessur A, Kemp JP, Krapohl E, Martin NG, Murcia M, Myhre R, Ormel J, Ring SM, Standl M, Stergiakouli E, Stoltenberg C, Thiering E, Timpson NJ, Trzaskowski M, van der Most PJ, Wang C, EArly Genetics and Lifecourse Epidemiology (EAGLE) Consortium P, Nyholt DR, Medland SE, Neale B, Jacobsson B, Sunyer J, Hartman CA, Whitehouse AJ, Pennell CE, Heinrich J, Plomin R, Davey Smith G, Tiemeier H, Posthuma D, Boomsma DI
Publikováno v: JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-FISABIO. Repositorio Institucional de Producción Científica
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Objective: The aims of this study were to elucidate the influence of common genetic variants on childhood attention-deficit/hyperactivity disorder (ADHD) symptoms, to identify genetic variants that explain its high heritability, and to investigate th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::74df322f1dae57b89059ea41802af1cd
https://fundanet.fisabio.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=1403
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8
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity
Autor: D. L. Cousminer, D. J. Berry, N. J. Timpson, W. Ang, E. Thiering, E. M. Byrne, H. R. Taal, V. Huikari, J. P. Bradfield, M. Kerkhof, M. M. Groen Blokhuis, E. Kreiner Moller, M. Marinelli, C. Holst, J. T. Leinonen, J. R. B. Perry, I. Surakka, O. Pietilainen, J. Kettunen, V. Anttila, M. Kaakinen, U. Sovio, A. Pouta, S. Das, V. Lagou, C. Power, I. Prokopenko, D. M. Evans, J. P. Kemp, B. St Pourcain, S. Ring, A. Palotie, E. Kajantie, C. Osmond, T. Lehtimaki, J. S. Viikari, M. Kahonen, N. M. Warrington, S. J. Lye, L. J. Palmer, C. M. T. Tiesler, C. Flexeder, G. W. Montgomery, S. E. Medland, A. Hofman, H. Hakonarson, M. Guxens, M. Bartels, V. Salomaa, J. M. Murabito, J. Kaprio, T. I. A. Sorensen, F. Ballester, H. Bisgaard, D. I. Boomsma, G. H. Koppelman, S. F. A. Grant, V. W. V. Jaddoe, N. G. Martin, J. Heinrich, C. E. Pennell, O. T. Raitakari, J. G. Eriksson, G. D. Smith, E. Hypponen, M. R. Jarvelin, M. I. McCarthy, S. Ripatti, E. Widen, Adair LS, Ang W, Atalay M, van Beijsterveldt T, Bergen N, Benke K, Berry DJ, Boomsma DI, Bradfield JP, Charoen P, Coin L, Cooper C, Cousminer DL, Das S, Davis OS, Dedoussis GV, Elliott P, Estivill X, Evans DM, Feenstra B, Flexeder C, Frayling T, Freathy RM, Gaillard R, Geller F, Gillman M, Grant SF, Groen Blokhuis M, Goh LK, Guxens M, Hakonarson H, Hattersley AT, Haworth CM, Hadley D, Hedebrand J, Heinrich J, Hinney A, Hirschhorn JN, Hocher B, Holloway JW, Holst C, Hottenga JJ, Horikoshi M, Huikari V, Hypponen E, Iñiguez C, Jaddoe VW, Jarvelin MR, Kaakinen M, Kilpeläinen TO, Kirin M, Kowgier M, Lakka HM, Lakka TA, Lange LA, Lawlor DA, Lehtimäki T, Lewin A, Lindgren C, Lindi V, Maggi R, Marsh J, McCarthy MI, Melbye M, Middeldorp C, Millwood I, Mohlke KL, Mook Kanamori DO, Murray JC, Nivard M, Nohr EA, Ntalla I, Oken E, Ong KK, O'Reilly PF, Palmer LJ, Panoutsopoulou K, Pararajasingham J, Pearson ER, Pennell CE, Power C, Price TS, Prokopenko I, Raitakari OT, Rodriguez A, Salem RM, Saw SM, Scherag A, Sebert S, Siitonen N, Simell O, Sørensen TI, Sovio U, Pourcain BS, Strachan DP, Sunyer J, Taal HR, Teo YY, Thiering E, Tiesler C, Timpson NJ, Uitterlinden AG, Valcárcel B, Warrington NM, White S, Widén E, Willemsen G, Wilson JF, Yaghootkar H, Zeggini E, Elks CE, Perry JR, Sulem P, Chasman DI, Franceschini N, He C, Lunetta KL, Visser JA, Byrne EM, Gudbjartsson DF, Esko T, Koller DL, Kutalik Z, Lin P, Mangino M, Marongiu M, McArdle PF, Smith AV, Stolk L, van Wingerden SH, Zhao JH, Albrecht E, Corre T, Ingelsson E, Hayward C, Magnusson PK, Smith EN, Ulivi S, Warrington M, Zgaga L, Alavere H, Amin N, Aspelund T, Bandinelli S, Barroso I, Berenson GS, Bergmann S, Blackburn H, Boerwinkle E, Buring JE, Busonero F, Campbell H, Chanock SJ, Chen W, Cornelis MC, Couper D, Coviello AD, de Faire U, de Geus EJ, Deloukas P, Döring A, Davey Smith G, Easton DF, Eiriksdottir G, Emilsson V, Eriksson J, Ferrucci L, Folsom AR, Foroud T, Garcia M, GASPARINI, PAOLO, Gieger C, Gudnason V, Hall P, Hankinson SE, Ferreli L, Heath AC, Hernandez DG, Hofman A, Hu FB, Illig T, Järvelin MR, Johnson AD, Karasik D, Khaw KT, Kiel DP, Kolcic I, Kraft P, Launer LJ, Laven JS, Li S, Liu J, Levy D, Martin NG, McArdle WL, Mooser V, Murray SS, Nalls MA, Navarro P, Nelis M, Ness AR, Northstone K, Oostra BA, Peacock M, Palotie A, Paré G, Parker AN, Pedersen NL, Peltonen L, Pharoah P, Polasek O, Plump AS, Pouta A, Porcu E, Rafnar T, Rice JP, Ring SM, Rivadeneira F, Rudan I, Sala C, Salomaa V, Sanna S, Schlessinger D, Schork NJ, Scuteri A, Segrè AV, Shuldiner AR, Soranzo N, Srinivasan SR, Tammesoo ML, Tikkanen E, Toniolo D, Tsui K, Tryggvadottir L, Tyrer J, Uda M, van Dam RM, van Meurs JB, Vollenweider P, Waeber G, Wareham NJ, Waterworth DM, Weedon MN, Wichmann HE, Wright AF, Young L, Zhai G, Zhuang WV, Bierut LJ, Boyd HA, Crisponi L, Demerath EW, van Duijn CM, Econs MJ, Harris TB, Hunter DJ, Loos RJ, Metspalu A, Montgomery GW, Ridker PM, Spector TD, Streeten EA, Stefansson K, Thorsteinsdottir U, Widen E, Murabito JM, Murray A., D'ADAMO, ADAMO PIO
Publikováno v: Human Molecular Genetics Vol. 22 Issue 13: pp. 2735-2747
RODERIC. Repositorio Institucional de la Universitat de Valéncia
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Human Molecular Genetics
Hum. Mol. Genet. 22, 2735-2747 (2013)
HUMAN MOLECULAR GENETICS
r-FISABIO. Repositorio Institucional de Producción Científica
Human Molecular Genetics; Vol 22
Cousminer, D L, Berry, D J, Timpson, N J, Ang, W, Thiering, E, Byrne, E M, Taal, H R, Huikari, V, Bradfield, J P, Kerkhof, M, Groen-Blokhuis, M M, Kreiner-Møller, E, Marinelli, M, Holst, C, Leinonen, J T, Perry, J R, Surakka, I, Pietilainen, O P, Kettunen, J, Anttila, V, Kaakinen, M, Sovio, U, Pouta, A, Das, S, Lagou, V, Power, C, Prokopenko, I, Evans, D M, Kemp, J P, St Pourcain, B, Ring, S M, Palotie, A, Kajantie, E, Osmond, C, Lehtimäki, T, Viikari, J S, Kähönen, M, Warrington, N M, Lye, S J, Palmer, L J, Tiesler, C M T, Flexeder, C, Montgomery, G W, Medland, S E, Hofman, A, Hakonarson, H, Guxens, M, Bartels, M, Salomaa, V, Adair, L S, Atalay, M, van Beijsterveldt, C E M, Bergen, N, Benke, K S, Charoen, P, Coin, L, Cooper, C, Davis, O S, Dedoussis, G V, Elliott, P, Estivill, X, Feenstra, B, Frayling, T M, Freathy, R M, Gaillard, R, Geller, F, Gillman, M W, Goh, L K, Hattersley, A T, Haworth, C M, Hadley, D, Hedebrand, J, Hinney, A, Hirschhorn, J N, Hocher, B, Holloway, J W, Hottenga, J J, Horikoshi, M, Iñiguez, C, Järvelin, M R, Kilpeläinen, T O, Kirin, M, Kowgier, M, Lakka, H M, Lakka, T A, Lange, L A, Lawlor, D A, Lewin, A, Lindgren, C M, Lindi, V, Maggi, R, Marsh, J, Melbye, M, Middeldorp, C M, Millwood, I, Mohlke, K L, Mook-Kanamori, D O, Murray, J C, Nivard, M G, Nohr, E A, Ntalla, I, Oken, E, Ong, K K, O'Reilly, P F, Panoutsopoulou, K, Pararajasingham, J, Pearson, E R, Price, T S, Rodriguez, A, Salem, R M, Saw, S M, Scherag, A, Sebert, S, Siitonen, N, Simell, O, Strachan, D P, Sunyer, J, Teo, Y Y, Uitterlinden, A G, Valcárcel, B, White, S, Widén, E, Willemsen, G, Wilson, J F, Yaghootkar, H, Zeggini, E, Elks, C E, Sulem, P, Chasman, D I, Franceschini, N, He, C, Lunetta, K L, Visser, J A, Gudbjartsson, D F, Esko, T, Koller, D L, Kutalik, Z, Lin, P, Mangino, M, Marongiu, M, McArdle, P F, Smith, A V, Stolk, L, van Wingerden, S, Zhao, J H, Albrecht, E, Corre, T, Ingelsson, E, Hayward, C, Magnusson, P K E, Smith, E N, Ulivi, S, Warrington, M, Zgaga, L, Alavere, H, Amin, N, Aspelund, T, Bandinelli, S, Barroso, I, Berenson, G S, Bergmann, S, Blackburn, H, Boerwinkle, E, Buring, J E, Busonero, F, Campbell, H, Chanock, S J, Chen, W, Cornelis, M C, Couper, D, Coviello, A D, d'Adamo, P, de Faire, U, de Geus, E J C, Deloukas, P, Döring, A, Davey Smith, G, Easton, D F, Eiriksdottir, G, Emilsson, V, Ferrucci, L, Folsom, A R, Foroud, T, Garcia, M, Gasparini, P, Gieger, C, Gudnason, V, Hall, P, Hankinson, S E, Ferreli, L, Heath, A C, Hernandez, D G, Hu, F B, Illig, T, Johnson, A D, Karasik, D, Khaw, K T, Kiel, D P, Kolcic, I, Kraft, P, Launer, L J, Laven, J S, Li, S, Liu, J, Levy, D, McArdle, W L, Mooser, V, Murray, S S, Nalls, M A, Navarro, P, Nelis, M, Ness, A R, Northstone, K, Oostra, B A, Peacock, M, Paré, G, Parker, A N, Pedersen, N L, Peltonen, L, Pennell, C E, Pharoah, P, Polasek, O, Plump, A S, Porcu, E, Rafnar, T, Rice, J P, Rivadeneira, F, Rudan, I, Sala, C, Sanna, S, Schlessinger, D, Schork, N J, Scuteri, A, Segrè, A V, Shuldiner, A R, Soranzo, N, Srinivasan, S R, Tammesoo, M L, Tikkanen, E, Toniolo, D, Tsui, K, Tryggvadottir, L, Tyrer, J, Uda, M, Dam, R M, van Meurs, J B, Vollenweider, P, Waeber, G, Wareham, N J, Waterworth, D, Weedon, M N, Wichmann, H E, Wright, A F, Young, L, Zhai, G, Zhuang, W V, Bierut, L J, Boyd, H A, Crisponi, L, Demerath, E W, van Duijn, C M, Econs, M J, Harris, T B, Hunter, D J, Loos, R J, Metspalu, A, Ridker, P M, Spector, T D, Streeten, E A, Stefansson, K, Thorsteinsdottir, U, Murray, A, Murabito, J M, Kaprio, J, Sørensen, T I A, Ballester, F, Bisgaard, H, Boomsma, D I, Koppelman, G H, Grant, S F, Jaddoe, V W, Martin, N G, Heinrich, J, Raitakari, O T, Eriksson, J G, Smith, G D, Hyppönen, E, McCarthy, M I & Ripatti, S 2013, ' Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth pubertal timing and childhood adiposity ', Human Molecular Genetics, vol. 22, no. 13, pp. 2735-2747 . https://doi.org/10.1093/hmg/ddt104
Human Molecular Genetics, 22(13), 2735-2747. Oxford University Press
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
The pubertal height growth spurt is a distinctive feature of childhood growth reflecting both the central onset of puberty and local growth factors. Although little is known about the underlying genetics, growth variability during puberty correlates
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23b26d537e0fd4cd246c06c21c1a378f
https://hdl.handle.net/1959.8/152978
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9
A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site
Autor: Nürnberg ST, Rendon A, Smethurst PA, Paul DS, Voss K, Thon JN, Lloyd Jones H, Sambrook JG, Tijssen MR, Gieger C, Radhakrishnan A, Cvejic A, Tang W, Porcu E, Pistis G, Serbanovic Canic J, Elling U, Goodall AH, Labrune Y, Lopez LM, Mägi R, Meacham S, Okada Y, Sorice R, Teumer A, Zhang W, Ramirez Solis R, Bis JC, Ellinghaus D, Gögele M, Hottenga JJ, Langenberg C, Kovacs P, F. P, Shin SY, Esko T, Hartiala J, Kanoni S, Murgia F, Parsa A, Stephens J, van der Harst P, van der Schoot C, Allayee H, Attwood A, Balkau B, Bastardot F, Basu S, Baumeister SE, Biino G, Bomba L, Bonnefond A, Cambien F, Chambers JC, Cucca F, Davies G, de Geus EJ, de Boer RA, Döring A, Elliott P, Erdmann J, Feng W, Evans DM, Falchi M, Folsom AR, Frazer IH, Gibson QD, Glazer NL, Hammond C, Hartikainen AL, Heckbert SR, Hengstenberg C, Hersch M, Illig T, Loos RJ, Jolley J, Khaw KT, Kühnel B, Kyrtsonis MC, Lagou V, Lumley T, Mangino M, Maschio A, Mateo Leach I, McKnight B, Memari Y, Mitchell BD, Montgomery GW, Nöthlings U, Nakamura Y, Nauck M, Navis G, Nolte IM, Porteous DJ, Pouta A, Pramstaller PP, Pullat J, Ring SM, Rotter JI, Ruggiero D, Ruokonen A, Sala C, Samani NJ, Sambrook J, Schlessinger D, Schreiber S, Schunkert H, Scott J, Smith NL, Snieder H, Starr JM, Stumvoll M, Takahashi A, Taylor K, Tenesa A, Thein SL, Tönjes A, Uda M, Ulivi S, Wichmann HE, Yang TP, van Veldhuisen DJ, Visscher PM, Völker U, Wiggins KL, Willemsen G, Zhao JH, Zitting P, Bradley JR, Dedoussis GV, Hazen SL, Metspalu A, Pirastu M, Shuldiner AR, van Pelt L, Zwaginga JJ, Boomsma DI, Deary IJ, Franke A, Froguel P, Ganesh SK, Jarvelin MR, Martin NG, Meisinger C, Psaty BM, Spector TD, Wareham NJ, Akkerman JW, Ciullo M, Deloukas P, Greinacher A, Jupe S, Kamatani N, Khadake J, Kooner JS, Penninger J, Prokopenko I, Stemple D, Toniolo D, Wernisch L, Sanna S, Hicks AA, Ferreira MA, Italiano JE Jr, Gottgens B, Soranzo N, Ouwehand WH, PIRASTU, Nicola, D'ADAMO, ADAMO PIO, GASPARINI, PAOLO
Publikováno v: Blood 120 (2012): 4859–4868. doi:10.1182/blood-2012-01-401893
info:cnr-pdr/source/autori:Nurnberg ST, Rendon A, Smethurst PA, Paul DS, Voss K, Thon JN, Lloyd-Jones H, Sambrook JG, Tijssen MR; HaemGen Consortium, Italiano JE Jr, Deloukas P, Gottgens B, Soranzo N, Ouwehand WH./titolo:A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site./doi:10.1182%2Fblood-2012-01-401893/rivista:Blood/anno:2012/pagina_da:4859/pagina_a:4868/intervallo_pagine:4859–4868/volume:120
Nürnberg, S T, Rendon, A, Smethurst, P A, Paul, D S, Voss, K, Thon, J N, Lloyd-Jones, H, Sambrook, J G, Tijssen, M R, Hottenga, J J, de Geus, E J C, Willemsen, G, Boomsma, D I, Italiano Jr, J E, Deloukas, P, Gottgens, B, Soranzo, N & Ouwehand, W H 2012, ' A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site ', Blood, vol. 120, no. 24, pp. 4859-4868 . https://doi.org/10.1182/blood-2012-01-401893
Blood, 120(24), 4859-4868. American Society of Hematology
Nürnberg, S T, Rendon, A, Smethurst, P A, Paul, D S, Voss, K, Thon, J N, Lloyd-Jones, H, Sambrook, J G, Tijssen, M R, Italiano, J E, Deloukas, P, Gottgens, B, Soranzo, N, Ouwehand, W H & Pirastu, N 2012, ' A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site ', Blood, vol. 120, no. 24, pp. 4859-68 . https://doi.org/10.1182/blood-2012-01-401893
We recently identified 68 genomic loci where common sequence variants are associated with platelet count and volume. Platelets are formed in the bone marrow by megakaryocytes, which are derived from hematopoietic stem cells by a process mainly contro
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae2e64f26a5f52ff78d19ed098857b3b
https://hdl.handle.net/11368/2649910
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10
Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction
Autor: Lucas G1, Lluís-Ganella C, Subirana I, Musameh MD, Gonzalez JR, Nelson CP, Sentí M, Myocardial Infarction Genetics Consortium, Wellcome Trust Case Control Consortium, Schwartz SM, Siscovick D, O'Donnell CJ, Melander O, Salomaa V, Purcell S, Altshuler D, Samani NJ, Kathiresan S, Elosua R, Voight BF, Musunuru K, Ardissino D, Mannucci PM, Anand S, Engert JC, Schunkert H, Erdmann J, Reilly MP, Rader DJ, Morgan T, Spertus JA, Stoll M, Girelli D, McKeown PP, Patterson CC, Siscovick DS, Peltonen L, Merlini PA, Berzuini C, Bernardinelli L, Peyvandi F, Tubaro M, Celli P, Ferrario M, Fetiveau R, Marziliano N, Casari G, Galli M, Ribichini F, Rossi M, Bernardi F, Zonzin P, Piazza A, Yee J, Friedlander Y, Marrugat J, Lucas G, Sala J, Ramos R, Meigs JB, Williams G, Nathan DM, MacRae CA, Havulinna AS, Berglund G, Deloukas P, Donnelly P, Farrall M, Gough SC, Hall AS, Hattersley AT, Hill AV, Kwiatkowski DP, Mathew CG, McCarthy MI, Ouwehand WH, Parkes M, Pembrey M, Rahman N, Stratton MR, Todd JA, Worthington J, Burton PR, Clayton DG, Cardon LR, Craddock N, Duncanson A, Barrett JC, Davison D, Easton D, Evans D, Leung HT, Marchini JL, Morris AP, Spencer CC, Tobin MD, Attwood AP, Boorman JP, Cant B, Everson U, Hussey JM, Jolley JD, Knight AS, Koch K, Meech E, Nutland S, Prowse CV, Stevens HE, Taylor NC, Walters GR, Walker NM, Watkins NA, Winzer T, Jones RW, McArdle WL, Ring SM, Strachan DP, Ball SG, Balmforth AJ, Barrett JH, Bishop D, Iles MM, Maqbool A, Braund PS, Dixon RJ, Mangino M, Stevens S, Thompson JR, Bumpstead SJ, Chaney A, Downes K, Ghori MJ, Gwilliam R, Hunt SE, Inouye M, Keniry A, King E, McGinnis R, Potter S, Ravindrarajah R, Whittaker P, Widden C, Cardo LR, Cardin NJ, Ferreira T, Pereira-Gale J, Hallgrimsdottir IB, Howie BN, Su Z, Teo YY, Vukcevic D
Publikováno v: PLoS ONE, Vol 7, Iss 8, p e41730 (2012)
PLoS ONE; 7(8) (2012)
Recercat. Dipósit de la Recerca de Catalunya
instname
PLoS ONE
The genetic loci that have been found by genome-wide association studies to modulate risk of coronary heart disease explain only a fraction of its total variance, and gene-gene interactions have been proposed as a potential source of the remaining he
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7137cbffdf8bbffb8903d1b32b7d981
http://www.plosone.org/article/fetchObjectAttachment.action?uri=info:doi/10.1371/journal.pone.0041730&representation=PDF
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