المؤلفون: Mn, Weedon, L, Jackson, Jw, Harrison, Ks, Ruth, J, Tyrrell, At, Hattersley, Cf, Wright

مصطلحات موضوعية: Humans, Adult, Aged, Female, Male, Middle Aged, Predictive Value of Tests, Retrospective Studies, Registries, High-Throughput Nucleotide Sequencing, Oligonucleotide Array Sequence Analysis, Breast Neoplasms/*diagnosis/genetics, False Negative Reactions, False Positive Reactions, Genes, BRCA1, BRCA2, Genetic Testing/methods, Genotyping Techniques, Ovarian Neoplasms/*diagnosis/genetics, Pancreatic Neoplasms/*diagnosis/genetics, Polymorphism, Single Nucleotide, Prostatic Neoplasms/*diagnosis/genetics, Sequence Analysis, DNA

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/33589468/; Mn, W. et al. (2021) ‘Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation.’, BMJ (Clinical research ed.), 372, p. n214. doi:10.1136/bmj.n214.; https://rde.dspace-express.com/handle/11287/622114; BMJ (Clinical research ed.); PMC7879796

الاتاحة: https://doi.org/10.1136/bmj.n214
https://rde.dspace-express.com/handle/11287/622114

المؤلفون: MN, Wakeling, NDL, Owens, JR, Hopkinson, MB, Johnson, JAL, Houghton, A, Dastamani, CS, Flaxman, RC, Wyatt, TI, Hewat, JJ, Hopkins, TW, Laver, R, van Heugten, MN, Weedon, E, De Franco, KA, Patel, S, Ellard, NG, Morgan, E, Cheesman, I, Banerjee, AT, Hattersley, MJ, Dunne, SJ, Richardson, SE, Flanagan

المصدر: Yearbook of Paediatric Endocrinology ; ISSN 1662-4009

الاتاحة: http://dx.doi.org/10.1530/ey.20.13.8
https://www.espeyearbook.org/ey/0020/ey0020.13-8

المؤلفون: L Jackson, MN Weedon, JW Harrison, AR Wood, KS Ruth, J Tyrrell, CF Wright

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a5942e3479cbb3e09bb4bb2f1e138256
https://doi.org/10.1101/2022.07.08.22277415

المؤلفون: GJ Walker, JW Harrison, GA Heap, MD Voskuil, V Andersen, CA Anderson, AN Ananthakrishnan, JC Barrett, L Beaugerie, CM Bewshea, AT Cole, FR Cummings, MJ Daly, P Ellul, RN Fedorak, EAM Festen, TH Florin, DR Gaya, J Halfvarson, AL Hart, Neel Heerasing, P Hendy, PM Irving, SE Jones, J Koskela, JO Lindsay, JC Mansfield, D McGovern, M Parkes, RCG Pollok, S Ramakrishnan, DS Rampton, MA Rivas, RK Russell, M Schultz, S Sebastian, P Seksik, A Singh, K So, H Sokol, K Subramaniam, A Todd, V Annese, RK Weersma, R Xavier, R Ward, MN Weedon, JR Goodhand, NA Kennedy, T Ahmad, AL Holden, J Andrews, M Auth, S Babu, P Bampton, P Banim, T Barnes, D Basude, J Beckly, A Bell, S Bell, P Bhandari, S Bloom, D Border, F Bredin, MJ Brookes, M Brown, C Calvert, D Campbell, N Chanchlani, B Chaudhary, R Chaudhary, G Chung-Faye, B Colleypriest, S Connor, R Cooney, S Cooper, TJ Creed, N Croft, S Cullen, M D'Amato, R D'Inca, H Dalal, TK Daneshmend, D Das, M Delaney, S DeSilva, A Dhar, S Dharmasiri, N Direkze, P Dunckley, D Elphick, SM Everett, M Feeney, J Fell, S Foley, A Franke, D Gavin, I Gee

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Medicine, General & Internal, General & Internal Medicine, ACUTE LYMPHOBLASTIC-LEUKEMIA, MERCAPTOPURINE INTOLERANCE, S-METHYLTRANSFERASE, AZATHIOPRINE, POLYMORPHISMS, CHILDREN, SUSCEPTIBILITY, MANAGEMENT, PREDICTOR, THERAPY

Relation: http://hdl.handle.net/10779/DRO/DU:20766661.v2

الاتاحة: http://hdl.handle.net/10779/DRO/DU:20766661.v2
https://figshare.com/articles/journal_contribution/Association_of_Genetic_Variants_in_NUDT15_with_Thiopurine-Induced_Myelosuppression_in_Patients_with_Inflammatory_Bowel_Disease/20766661

المؤلفون: SE, Jones, JM, Lane, AR, Wood, VT, van Hees, J, Tyrrell, RN, Beaumont, AR, Jeffries, HS, Dashti, M, Hillsdon, KS, Ruth, MA, Tuke, H, Yaghootkar, SA, Sharp, Y, Jie, WD, Thompson, JW, Harrison, A, Dawes, EM, Byrne, H, Tiemeier, KV, Allebrandt, J, Bowden, DW, Ray, RM, Freathy, A, Murray, DR, Mazzotti, PR, Gehrman, DA, Lawlor, TM, Frayling, MK, Rutter, DA, Hinds, R, Saxena, MN, Weedon

المصدر: Yearbook of Paediatric Endocrinology ; ISSN 1662-4009

الاتاحة: http://dx.doi.org/10.1530/ey.16.1.1
http://www.espeyearbook.org/ey/0016/ey0016.1-1.htm

المؤلفون: OR, Cabezas, SE, Flanagan, H, Stanescu, E, García-Martínez, R, Caswell, H, Lango-Allen, M, Antón-Gamero, J, Argente, AM, Bussell, A, Brandli, C, Cheshire, E, Crowne, S, Dumitriu, R, Drynda, JP, Hamilton-Shield, W, Hayes, A, Hofherr, D, Iancu, N, Issler, C, Jefferies, P, Jones, M, Johnson, A, Kesselheim, E, Klootwijk, M, Koettgen, W, Lewis, JM, Martos, M, Mozere, J, Norman, V, Patel, A, Parrish, C, Pérez-Cerdá, J, Pozo, SA, Rahman, N, Sebire, M, Tekman, PD, Turnpenny, WV, Hoff, DHHM, Viering, MN, Weedon, P, Wilson, L, Guay-Woodford, R, Kleta, K, Hussain, S, Ellard, D, Bockenhauer

المصدر: Yearbook of Paediatric Endocrinology ; ISSN 1662-4009

الاتاحة: http://dx.doi.org/10.1530/ey.15.2.1
http://www.espeyearbook.org/ey/0015/ey0015.2-1.htm

المؤلفون: NJ, Thomas, SE, Jones, MN, Weedon, BM, Shields, RA, Oram, AT, Hattersley

المصدر: Yearbook of Paediatric Endocrinology ; ISSN 1662-4009

الاتاحة: http://dx.doi.org/10.1530/ey.15.10.3
http://www.espeyearbook.org/ey/0015/ey0015.10-3.htm

المؤلفون: GJ Walker, JW Harrison, GA Heap, Neel Heerasing, PJ Hendy, C Bewshea, Goodhand, MN Weedon, NA Kennedy, T Ahmad

مصطلحات موضوعية: Biomedical and clinical sciences, Clinical sciences, Nutrition and dietetics, Digestive Diseases, Autoimmune Disease, Clinical Research, Inflammatory Bowel Disease, Genetics, Human Genome, 2.1 Biological and endogenous factors, Oral and gastrointestinal, 3 Good Health and Well Being

Relation: http://hdl.handle.net/10779/DRO/DU:26393161.v1

الاتاحة: http://hdl.handle.net/10779/DRO/DU:26393161.v1
https://figshare.com/articles/journal_contribution/OC-046_Nudt15_variants_contribute_to_thiopurine-induced_myelosuppression_in_european_populations/26393161

المؤلفون: AE Locke, B Kahali, SI Berndt, AE Justice, TH Pers, FR Day, C Powell, S Vedantam, ML Buchkovich, J Yang, DC Croteau-Chonka, T Esko, T Fall, T Ferreira, S Gustafsson, Z Kutalik, J Luan, R Mägi, JC Randall, TW Winkler, AR Wood, T Workalemahu, JD Faul, JA Smith, JH Zhao, W Zhao, J Chen, R Fehrmann, K Hedman, J Karjalainen, EM Schmidt, D Absher, N Amin, D Anderson, M Beekman, JL Bolton, JL Bragg-Gresham, S Buyske, A Demirkan, G Deng, G Ehret, B Feenstra, M Feitosa, K Fischer, A Goel, J Gong, AU Jackson, S Kanoni, ME Kleber, K Kristiansson, U Lim, V Lotay, M Mangino, IM Leach, C Medina-Gomez, SE Medland, MA Nalls, CD Palmer, D Pasko, S Pechlivanis, MJ Peters, I Prokopenko, D Shungin, A Stančáková, RJ Strawbridge, YJ Sung, T Tanaka, A Teumer, S Trompet, SW van der Laan, J van Setten, JV Van Vliet-Ostaptchouk, Z Wang, L Yengo, W Zhang, A Isaacs, E Albrecht, J Ärnlöv, GM Arscott, AP Attwood, S Bandinelli, A Barrett, IN Bas, C Bellis, AJ Bennett, C Berne, R Blagieva, M Blüher, S Böhringer, LL Bonnycastle, Y Böttcher, HA Boyd, M Bruinenberg, IH Caspersen, YI Chen, R Clarke, EW Daw, AJM de Craen, G Delgado, M Dimitriou, ASF Doney, N Eklund, K Estrada, E Eury, L Folkersen, RM Fraser, M Garcia, F Geller, V Giedraitis, B Gigante, AS Go, A Golay, A Goodall, SD Gordon, M Gorski, HJ Grabe, H Grallert, TB Grammer, J Gräßler, H Grönberg, CJ Groves, G Gusto, J Haessler, P Hall, T Haller, G Hallmans, CA Hartman, M Hassinen, C Hayward, NL Heard-Costa, Q Helmer, C Hengstenberg, O Holmen, JJ Hottenga, AL James, J Jeff, Johansson, J Jolley, T Juliusdottir, L Kinnunen, W Koenig, M Koskenvuo, W Kratzer, J Laitinen, C Lamina, K Leander, NR Lee, P Lichtner, L Lind, J Lindström, KS Lo, S Lobbens, R Lorbeer, Y Lu, F Mach, PK Magnusson, A Mahajan, WL McArdle, S McLachlan, C Menni, S Merger, E Mihailov, L Milani, A Moayyeri, KL Monda, MA Morken, A Mulas, G Müller, M Müller-Nurasyid, AW Musk, R Nagaraja, MM Nöthen, IM Nolte, S Pilz, NW Rayner, F Renstrom, R Rettig, JS Ried, S Ripke, N Robertson, LM Rose, S Sanna, H Scharnagl, S Scholtens, F Schumacher, WR Scott, T Seufferlein, J Shi, AV Smith, J Smolonska, AV Stanton, V Steinthorsdottir, K Stirrups, HM Stringham, J Sundström, MA Swertz, AJ Swift, AC Syvänen, ST Tan, B Tayo, B Thorand, G Thorleifsson, J Tyrer, HW Uh, L Vandenput, FC Verhulst, SH Vermeulen, N Verweij, JM Vonk, LL Waite, HR Warren, DM Waterworth, MN Weedon, L Wilkens, C Willenborg, T Wilsgaard, MK Wojczynski, A Wong, AF Wright, Q Zhang, EP Brennan, M Choi, Z Dastani, AW Drong, P Eriksson, A Franco-Cereceda, JR Gådin, AG Gharavi, ME Goddard, RE Handsaker, J Huang, F Karpe, S Kathiresan, S Keildson, K Kiryluk, M Kubo, JY Lee, L Liang, RP Lifton, B Ma, SA McCarroll, AJ McKnight, JL Min, MF Moffatt, GW Montgomery, JM Murabito, G Nicholson, DR Nyholt, Y Okada, JR Perry, R Dorajoo, E Reinmaa, RM Salem, N Sandholm, RA Scott, L Stolk, A Takahashi, FM Van't Hooft, AAE Vinkhuyzen, HJ Westra, W Zheng, KT Zondervan, AC Heath, D Arveiler, SJ Bakker, JP Beilby, RN Bergman, J Blangero, P Bovet, H Campbell, M Caulfield, G Cesana, A Chakravarti, D Chasman, PS Chines, FS Collins, D Crawford, LA Cupples, D Cusi, J Danesh, U de Faire, HM Den Ruijter, AF Dominiczak, R Erbel, J Erdmann, JG Eriksson, M Farrall, SB Felix, E Ferrannini, J Ferrières, I Ford, NG Forouhi, T Forrester, OH Franco, RT Gansevoort, PV Gejman, C Gieger, O Gottesman, V Gudnason, UB Gyllensten, AS Hall, TB Harris, AT Hattersley, AA Hicks, L Hindorff, A Hingorani, A Hofman, G Homuth, G Hovingh, SE Humphries, SC Hunt, E Hyppönen, T Illig, KB Jacobs, MR Jarvelin, KH Jöckel, B Johansen, P Jousilahti, J Jukema, A Jula, J Kaprio, JJ Kastelein, SM Keinanen-Kiukaanniemi, LA Kiemeney, P Knekt, JS Kooner, C Kooperberg, P Kovacs, AT Kraja, M Kumari, J Kuusisto, T Lakka, C Langenberg, L Le Marchand, T Lehtimäki, V Lyssenko, S Männistö, A Marette, T Matise, CA McKenzie, B McKnight, FL Moll, AD Morris, AP Morris, JC Murray, M Nelis, C Ohlsson, AJ Oldehinkel, KK Ong, PAF Madden, G Pasterkamp, JF Peden, A Peters, DS Postma, PP Pramstaller, JF Price, L Qi, O Raitakari, T Rankinen, DC Rao, TK Rice, P Ridker, JD Rioux, M Ritchie, I Rudan, V Salomaa, N Samani, J Saramies, MA Sarzynski, H Schunkert, PE Schwarz, P Sever, AR Shuldiner, J Sinisalo, RP Stolk, K Strauch, A Tönjes, DA Trégouët, A Tremblay, E Tremoli, J Virtamo, MC Vohl, U Völker, G Waeber, G Willemsen, JC Witteman, MC Zillikens, LS Adair, P Amouyel, FW Asselbergs, TL Assimes, M Bochud, BO Boehm, E Boerwinkle, SR Bornstein, EP Bottinger, C Bouchard, S Cauchi, JC Chambers, SJ Chanock, RS Cooper, PIW de Bakker, GV Dedoussis, L Ferrucci, PW Franks, P Froguel, L Groop, C Haiman, A Hamsten, J Hui, DJ Hunter, K Hveem, RC Kaplan, M Kivimaki, D Kuh, M Laakso, Y Liu, NG Martin, W März, M Melbye, A Metspalu, S Moebus, P Munroe, I Njølstad, BA Oostra, CN Palmer, NL Pedersen, M Perola, L Pérusse, U Peters, C Power, T Quertermous, R Rauramaa, F Rivadeneira, TE Saaristo, D Saleheen, N Sattar, E Schadt, D Schlessinger, PE Slagboom, H Snieder, TD Spector, U Thorsteinsdottir, M Stumvoll, J Tuomilehto, AG Uitterlinden, M Uusitupa, P van der Harst, MC Walker, H Wallaschofski, N Wareham, H Watkins, DR Weir, H Wichmann, JF Wilson, P Zanen, I Borecki, P Deloukas, CS Fox, IM Heid, JR O'connell, DP Strachan, K Stefansson, C Van Duijn, G Abecasis, L Franke, TM Frayling, MI McCarthy, PM Visscher, A Scherag, CJ Willer, M Boehnke, KL Mohlke, CM Lindgren, JS Beckmann, I Barroso, KE North, E Ingelsson, JN Hirschhorn, RJ Loos, EK Speliotes, JR Thompson, BA Goldstein, IR König, JB Cazier, E Grundberg, AS Havulinna, WK Ho, JC Hopewell, N Eriksson, P Lundmark, LP Lyytikäinen, S Rafelt, E Tikkanen, N Van Zuydam, BF Voight, A Ziegler, D Altshuler, AJ Balmforth, PS Braund

مصطلحات موضوعية: Biological sciences, Genetics, Health sciences, Epidemiology, Adipogenesis, Adiposity, Age Factors, Body Mass Index, Energy Metabolism, Europe, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Glutamic Acid, Humans, Insulin, Insulin Secretion, Male, Obesity, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Racial Groups, Synapses, MD Multidisciplinary

Relation: http://hdl.handle.net/10779/DRO/DU:27069937.v2; https://figshare.com/articles/journal_contribution/Genetic_studies_of_body_mass_index_yield_new_insights_for_obesity_biology/27069937

الاتاحة: http://hdl.handle.net/10779/DRO/DU:27069937.v2
https://figshare.com/articles/journal_contribution/Genetic_studies_of_body_mass_index_yield_new_insights_for_obesity_biology/27069937

المؤلفون: GA Heap, A Singh, C Bewshea, MN Weedon, A Cole, T Creed, E Greig, P Irving, J Lindsay, J Mawdsley, Z Mazhar, T Orchard, D Reffitt, A Holden, T Ahmad

المصدر: Gut. 63:A2.2-A3

مصطلحات موضوعية: Gastroenterology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::53fc70cc2eea235827318d9320a30ecc
https://doi.org/10.1136/gutjnl-2014-307263.4

المؤلفون: Rachel Freathy, Mn, Weedon, Shields B, Ga, Hitman, Walker M, Mi, Mccarthy, At, Hattersley, Tm, Frayling

المصدر: Europe PubMed Central

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::50cd28e47eb7905e8bed5cbb89aaa5ec
http://europepmc.org/abstract/med/16685110

المؤلفون: Cm, Lindgren, Im, Heid, Jc, Randall, Lamina C, Steinthorsdottir V, Qi L, Ek, Speliotes, Thorleifsson G, Cj, Willer, Bm, Herrera, Au, Jackson, Lim N, Scheet P, Soranzo N, Amin N, Ys, Aulchenko, Jc, Chambers, Drong A, Luan J, Hn, Lyon, Rivadeneira F, Sanna S, Nj, Timpson, Mc, Zillikens, Jh, Zhao, Almgren P, Bandinelli S, Aj, Bennett, Rn, Bergman, Ll, Bonnycastle, Sj, Bumpstead, Sj, Chanock, Cherkas L, Chines P, Coin L, Cooper C, Crawford G, Doering A, Dominiczak A, Asf, Doney, Ebrahim S, Elliott P, Erdos MR, Estrada K, Ferrucci L, Fischer G, Ng, Forouhi, Gieger C, Grallert H, Cj, Groves, Grundy S, Guiducci C, Hadley D, Hamsten A, As, Havulinna, Hofman A, Holle R, Jw, Holloway, Illig T, Isomaa B, Lc, Jacobs, Jameson K, Jousilahti P, Karpe F, Kuusisto J, Laitinen J, Gm, Lathrop, Da, Lawlor, Mangino M, Wl, Mcardle, Meitinger T, Ma, Morken, Ap, Morris, Munroe P, Narisu N, Nordström A, Nordström P, Ba, Oostra, Cna, Palmer, Payne F, Jf, Peden, Inga Prokopenko, Renström F, Ruokonen A, Salomaa V, Ms, Sandhu, Lj, Scott, Scuteri A, Silander K, Song K, Yuan X, Hm, Stringham, Aj, Swift, Tuomi T, Uda M, Vollenweider P, Waeber G, Wallace C, Gb, Walters, Mn, Weedon, Jcm, Witteman, Zhang C, Zhang W, Mj, Caulfield, Fs, Collins, Davey Smith G, Inm, Day, Pw, Franks, At, Hattersley, Fb, Hu, Jarvelin M, Kong A, Js, Kooner, Laakso M, Lakatta E, Mooser V, Ad, Morris, Peltonen L, Nj, Samani, Td, Spector, Dp, Strachan, Tanaka T, Tuomilehto J, Ag, Uitterlinden, Cm, Duijn, Nj, Wareham, Procardis, Watkins For The Consortia H., Dm, Waterworth, Boehnke M, Deloukas P, Groop L, Dj, Hunter, Thorsteinsdottir U, Schlessinger D, H-, Wichmann, Tm, Frayling, Gr, Abecasis, Jn, Hirschhorn, Rjf, Loos, Stefansson K, Kl, Mohlke, Barroso I, Giant Mi, Mccarthy For The Consortium

المصدر: Europe PubMed Central
PLoS Genetics
PLoS Genetics, Vol 5, Iss 7 (2009)

مصطلحات موضوعية: lcsh:Genetics, 0303 health sciences, 03 medical and health sciences, Cancer Research, 0302 clinical medicine, lcsh:QH426-470, Genetics, Correction, 030209 endocrinology & metabolism, Molecular Biology, Genetics (clinical), Ecology, Evolution, Behavior and Systematics, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc4aa71e313de404e331242e6d0f0e4f
http://europepmc.org/abstract/PMC/PMC2722420