المؤلفون: Hunt, KA, Smyth, DJ, Balschun, T, Ban, M, Mistry, V, Ahmad, T, Anand, V, Barrett, JC, Bhaw-Rosun, L, Bockett, NA, Brand, OJ, Brouwer, E, Concannon, P, Cooper, JD, Dias, KRM, van Diemen, CC, Dubois, PC, Edkins, S, Folster-Holst, R, Fransen, K, Glass, DN, Heap, GAR, Hofmann, S, Huizinga, TWJ, Hunt, S, Langford, C, Lee, J, Mansfield, J, Marrosu, MG, Mathew, CG, Mein, CA, Muller-Quernheim, J, Nutland, S, Onengut-Gumuscu, S, Ouwehand, W, Pearce, K, Prescott, NJ, Posthumus, MD, Potter, S, Rosati, G, Sambrook, J, Satsangi, J, Schreiber, S, Shtir, C, Simmonds, MJ, Sudman, M, Thompson, SD, Toes, R, Trynka, G, Vyse, TJ, Walker, NM, Weidinger, S, Zhernakova, A, Zoledziewska, M, Weersma, RK, Gough, SCL, Sawcer, S, Wijmenga, C, Parkes, M, Cucca, F, Franke, A, Deloukas, P, Rich, SS, Todd, JA, van Heel, DA

المصدر: Nature genetics. 44(1):3-5

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:123857374

المؤلفون: Dubois PC, Trynka G, Francke L, Hunt KA, Rpmanos J, Curtotti A, Zhernakova A, Heap GA, Adàny R, Aromaa A, Bardella MT, Van Den Berg LH, Bockett NA, De La Concha EG, DEma B, Fehrmann RS, Fernandez Aquero M, Fiatal S, Grandone E, Green PM, Groen HJ, Gwilliam R, Houwn RH, Hunt SE, Kaukinen K, Kelleher D, Korponay Szabo I, Kurppa K, Mac Mathuna P, Maki M, Mazzilli MC, McCann OT, Mearin ML, Mein CA, Mirza MM, Mistry V, Mora B, Morley KI, Mulder CJ, Murray JA, Nunez C, Oosterom E, Ophoff RA, Polanco I, Peltonen L, Platteel M, Rybak A, Salomaa V, Schweizer JJ, Sperandeo MP, Tack GJ, Turner G, Veldink JH, Verbeek WH, Weersma RK, Wolters WM, Urcelay E, Cukrowska B, Neuhausen SL, McManus R, Barisani D, Deloukas P, Barrett JC, Saavalainen P, Wijmenga C, Van Heel DA, GRECO, LUIGI

المساهمون: Dubois, Pc, Trynka, G, Francke, L, Hunt, Ka, Rpmanos, J, Curtotti, A, Zhernakova, A, Heap, Ga, Adàny, R, Aromaa, A, Bardella, Mt, Van Den Berg, Lh, Bockett, Na, De La Concha, Eg, Dema, B, Fehrmann, R, Fernandez Aquero, M, Fiatal, S, Grandone, E, Green, Pm, Groen, Hj, Gwilliam, R, Houwn, Rh, Hunt, Se, Kaukinen, K, Kelleher, D, Korponay Szabo, I, Kurppa, K, Mac Mathuna, P, Maki, M, Mazzilli, Mc, Mccann, Ot, Mearin, Ml, Mein, Ca, Mirza, Mm, Mistry, V, Mora, B, Morley, Ki, Mulder, Cj, Murray, Ja, Nunez, C, Oosterom, E, Ophoff, Ra, Polanco, I, Peltonen, L, Platteel, M, Rybak, A, Salomaa, V, Schweizer, Jj, Sperandeo, Mp, Tack, Gj, Turner, G, Veldink, Jh, Verbeek, Wh, Weersma, Rk, Wolters, Wm, Urcelay, E, Cukrowska, B, Greco, Luigi, Neuhausen, Sl, Mcmanus, R, Barisani, D, Deloukas, P, Barrett, Jc, Saavalainen, P, Wijmenga, C, Van Heel, Da

مصطلحات موضوعية: gene, celiac disease

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3730::a9f83733ed613dd5b9f22f2c58da1f02
http://hdl.handle.net/11588/365958

المؤلفون: Narasimhan VM; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK., Hunt KA; Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK., Mason D; Bradford Institute for Health Research, Bradford Teaching Hospitals National Health Service (NHS) Foundation Trust, Bradford BD9 6RJ, UK., Baker CL; Center for Genome Dynamics, The Jackson Laboratory, Bar Harbor, ME 04609, USA., Karczewski KJ; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA. Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Barnes MR; William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK., Barnett AH; Diabetes and Endocrine Centre, Heart of England NHS Foundation Trust and University of Birmingham, Birmingham B9 5SS, UK., Bates C; TPP, Mill House, Troy Road, Leeds LS18 5TN, UK., Bellary S; Aston Research Centre for Healthy Ageing, Aston University, Birmingham B4 7ET, UK., Bockett NA; Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK., Giorda K; 10X Genomics, 7068 Koll Center Parkway, Suite 415, Pleasanton, CA 94566, USA., Griffiths CJ; Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK., Hemingway H; Farr Institute of Health Informatics Research, London NW1 2DA, UK. Institute of Health Informatics, University College London, London NW1 2DA, UK., Jia Z; William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK., Kelly MA; School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, UK., Khawaja HA; William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK., Lek M; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA. Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., McCarthy S; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK., McEachan R; Bradford Institute for Health Research, Bradford Teaching Hospitals National Health Service (NHS) Foundation Trust, Bradford BD9 6RJ, UK., O'Donnell-Luria A; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA. Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Paigen K; Center for Genome Dynamics, The Jackson Laboratory, Bar Harbor, ME 04609, USA., Parisinos CA; Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK., Sheridan E; Bradford Institute for Health Research, Bradford Teaching Hospitals National Health Service (NHS) Foundation Trust, Bradford BD9 6RJ, UK., Southgate L; Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK., Tee L; School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, UK., Thomas M; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK., Xue Y; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK., Schnall-Levin M; 10X Genomics, 7068 Koll Center Parkway, Suite 415, Pleasanton, CA 94566, USA., Petkov PM; Center for Genome Dynamics, The Jackson Laboratory, Bar Harbor, ME 04609, USA., Tyler-Smith C; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK., Maher ER; Department of Medical Genetics, University of Cambridge and National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre, Box 238, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK. Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK., Trembath RC; Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK. Faculty of Life Sciences and Medicine, King's College London, London SE1 1UL, UK., MacArthur DG; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA. Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Wright J; Bradford Institute for Health Research, Bradford Teaching Hospitals National Health Service (NHS) Foundation Trust, Bradford BD9 6RJ, UK., Durbin R; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK. rd@sanger.ac.uk d.vanheel@qmul.ac.uk., van Heel DA; Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK. rd@sanger.ac.uk d.vanheel@qmul.ac.uk.

المصدر: Science (New York, N.Y.) [Science] 2016 Apr 22; Vol. 352 (6284), pp. 474-7. Date of Electronic Publication: 2016 Mar 03.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

مواضيع طبية MeSH: Consanguinity* , Health*, Histone-Lysine N-Methyltransferase/*genetics, Adult ; DNA Mutational Analysis ; Drug Prescriptions ; Exome/genetics ; Female ; Fertility ; Gene Knockout Techniques ; Genes, Lethal ; Genetic Loci ; Genome, Human ; Homologous Recombination ; Homozygote ; Humans ; Male ; Mothers ; Pakistan/ethnology ; Phenotype ; United Kingdom

المؤلفون: Mistry V; Blizard Institute, Barts and The London School of Medicine and Dentistry, 4 Newark Street, London E1 2AT, United Kingdom., Bockett NA; Blizard Institute, Barts and The London School of Medicine and Dentistry, 4 Newark Street, London E1 2AT, United Kingdom., Levine AP; Division of Medicine, University College London, London, WC1E 6JF, United Kingdom., Mirza MM; UCL Advanced Diagnostics, Molecular Profiling Laboratory, Sarah Cannon-UCL Laboratories, Ground Floor, Shropshire House, 1 Capper Street, London, WC1E 6JA, United Kingdom., Hunt KA; Blizard Institute, Barts and The London School of Medicine and Dentistry, 4 Newark Street, London E1 2AT, United Kingdom., Ciclitira PJ; King's College London, Division of Diabetes and Nutritional Sciences, Gastroenterology, The Rayne Institute, St Thomas' Hospital, Westminster Bridge Road, London SE1 7EH, United Kingdom., Hummerich H; Medical Research Council Prion Unit, Department of Neurodegenerative Disease, University College London Institute of Neurology, London WC1N 3BG, United Kingdom., Neuhausen SL; Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California 91010, United States of America., Simpson MA; Division of Genetics and Molecular Medicine, Kings College London School of Medicine, 8th Floor Tower Wing, Guy's Hospital, London SE1 9RY, United Kingdom., Plagnol V; University College London Genetics Institute, Gower Street, London WC1E 6BT, United Kingdom., van Heel DA; Blizard Institute, Barts and The London School of Medicine and Dentistry, 4 Newark Street, London E1 2AT, United Kingdom.

المصدر: PloS one [PLoS One] 2015 Jan 30; Vol. 10 (1), pp. e0116845. Date of Electronic Publication: 2015 Jan 30 (Print Publication: 2015).

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Exome*, Celiac Disease/*genetics, Case-Control Studies ; Female ; Follow-Up Studies ; Gene Frequency ; Genetic Linkage ; Genetic Predisposition to Disease ; Humans ; Male ; Pedigree ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA

المؤلفون: Hunt KA; Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK., Mistry V, Bockett NA, Ahmad T, Ban M, Barker JN, Barrett JC, Blackburn H, Brand O, Burren O, Capon F, Compston A, Gough SC, Jostins L, Kong Y, Lee JC, Lek M, MacArthur DG, Mansfield JC, Mathew CG, Mein CA, Mirza M, Nutland S, Onengut-Gumuscu S, Papouli E, Parkes M, Rich SS, Sawcer S, Satsangi J, Simmonds MJ, Trembath RC, Walker NM, Wozniak E, Todd JA, Simpson MA, Plagnol V, van Heel DA

المصدر: Nature [Nature] 2013 Jun 13; Vol. 498 (7453), pp. 232-5. Date of Electronic Publication: 2013 May 22.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

مواضيع طبية MeSH: Autoimmune Diseases/*genetics , Genetic Predisposition to Disease/*genetics , Genetic Variation/*genetics , Open Reading Frames/*genetics, Exons/genetics ; Gene Frequency ; Genome-Wide Association Study ; Humans ; Models, Genetic ; Mutation/genetics ; Phenotype ; Sample Size ; United Kingdom ; White People/genetics

المؤلفون: Hunt KA, Smyth DJ, Balschun T, Ban M, Mistry V, Ahmad T, Anand V, Barrett JC, Bhaw-Rosun L, Bockett NA, Brand OJ, Brouwer E, Concannon P, Cooper JD, Dias KR, van Diemen CC, Dubois PC, Edkins S, Fölster-Holst R, Fransen K, Glass DN, Heap GA, Hofmann S, Huizinga TW, Hunt S, Langford C, Lee J, Mansfield J, Marrosu MG, Mathew CG, Mein CA, Müller-Quernheim J, Nutland S, Onengut-Gumuscu S, Ouwehand W, Pearce K, Prescott NJ, Posthumus MD, Potter S, Rosati G, Sambrook J, Satsangi J, Schreiber S, Shtir C, Simmonds MJ, Sudman M, Thompson SD, Toes R, Trynka G, Vyse TJ, Walker NM, Weidinger S, Zhernakova A, Zoledziewska M, Weersma RK, Gough SC, Sawcer S, Wijmenga C, Parkes M, Cucca F, Franke A, Deloukas P, Rich SS, Todd JA, van Heel DA

مؤلفون مشاركون: Type 1 Diabetes Genetics Consortium, UK Inflammatory Bowel Disease (IBD) Genetics Consortium, Wellcome Trust Case Control Consortium

المصدر: Nature genetics [Nat Genet] 2011 Dec 27; Vol. 44 (1), pp. 3-5. Date of Electronic Publication: 2011 Dec 27.

نوع المنشور: Letter

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Variation*, Acetylesterase/*genetics , Autoimmune Diseases/*genetics, Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Risk Factors ; White People

المؤلفون: Trynka G; Genetics Department, University Medical Center and University of Groningen, The Netherlands., Hunt KA, Bockett NA, Romanos J, Mistry V, Szperl A, Bakker SF, Bardella MT, Bhaw-Rosun L, Castillejo G, de la Concha EG, de Almeida RC, Dias KR, van Diemen CC, Dubois PC, Duerr RH, Edkins S, Franke L, Fransen K, Gutierrez J, Heap GA, Hrdlickova B, Hunt S, Plaza Izurieta L, Izzo V, Joosten LA, Langford C, Mazzilli MC, Mein CA, Midah V, Mitrovic M, Mora B, Morelli M, Nutland S, Núñez C, Onengut-Gumuscu S, Pearce K, Platteel M, Polanco I, Potter S, Ribes-Koninckx C, Ricaño-Ponce I, Rich SS, Rybak A, Santiago JL, Senapati S, Sood A, Szajewska H, Troncone R, Varadé J, Wallace C, Wolters VM, Zhernakova A, Thelma BK, Cukrowska B, Urcelay E, Bilbao JR, Mearin ML, Barisani D, Barrett JC, Plagnol V, Deloukas P, Wijmenga C, van Heel DA

مؤلفون مشاركون: Spanish Consortium on the Genetics of Coeliac Disease (CEGEC), PreventCD Study Group, Wellcome Trust Case Control Consortium (WTCCC)

المصدر: Nature genetics [Nat Genet] 2011 Nov 06; Vol. 43 (12), pp. 1193-201. Date of Electronic Publication: 2011 Nov 06.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Polymorphism, Single Nucleotide*, Celiac Disease/*genetics, Case-Control Studies ; Chromosome Mapping ; Gene Frequency ; Genetic Loci ; Genome-Wide Association Study ; Haplotypes ; Humans ; Linkage Disequilibrium ; Risk Factors

المؤلفون: Morison IM; Department of Biochemistry, University of Otago, PO Box 56, Dunedin 9054, New Zealand. ian.morison@otago.ac.nz, Cramer Bordé EM, Cheesman EJ, Cheong PL, Holyoake AJ, Fichelson S, Weeks RJ, Lo A, Davies SM, Wilbanks SM, Fagerlund RD, Ludgate MW, da Silva Tatley FM, Coker MS, Bockett NA, Hughes G, Pippig DA, Smith MP, Capron C, Ledgerwood EC

المصدر: Nature genetics [Nat Genet] 2008 Apr; Vol. 40 (4), pp. 387-9. Date of Electronic Publication: 2008 Mar 16.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Signal Transduction*, Apoptosis/*physiology , Cytochromes c/*genetics , Mutation/*genetics , Thrombocytopenia/*etiology, Apoptotic Protease-Activating Factor 1/metabolism ; Female ; Genetic Linkage ; Humans ; Male ; Megakaryocytes/metabolism ; Megakaryocytes/pathology ; Oxidation-Reduction ; Pedigree ; Platelet Count ; Serine/chemistry ; Serine/genetics ; Thrombocytopenia/pathology