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Development of an integrated genome informatics, data management and workflow infrastructure: A toolbox for the study of complex disease genetics.
Published in:
Human Genomics, 2004, v. 1, n. 2, p. 98, doi. 10.1186/1479-7364-1-2-98
By:
- Burren, Oliver S.;
- Healy, Barry C.;
- Lam, Alex C.;
- Schuilenburg, Helen;
- Dolman, Geoffrey E.;
- Everett, Vincent H.;
- Laneri, Davide;
- Nutland, Sarah;
- Rance, Helen E.;
- Payne, Felicity;
- Smyth, Deborah;
- Lowe, Chris;
- Barratt, Bryan J.;
- Twells, Rebecca C.J.;
- Rainbow, Daniel B.;
- Wicker, Linda S.;
- Todd, John A.;
- Walker, Neil M.;
- Smink, Luc J.
Publication type:
Article
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.
Published in:
Journal of Clinical Investigation, 2014, v. 124, n. 9, p. 4028, doi. 10.1172/JCI73264
By:
- Payne, Felicity;
- Colnaghi, Rita;
- Rocha, Nuno;
- Seth, Asha;
- Harris, Julie;
- Carpenter, Gillian;
- Bottomley, William E.;
- Wheeler, Eleanor;
- Wong, Stephen;
- Saudek, Vladimir;
- Savage, David;
- O'Rahilly, Stephen;
- Carel, Jean-Claude;
- Barroso, Inês;
- O'Driscoll, Mark;
- Semple, Robert
Publication type:
Article
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.
Published in:
eLife, 2017, p. 1, doi. 10.7554/eLife.23813.001
By:
- Rocha, Nuno;
- Bulger, David A.;
- Frontini, Andrea;
- Titheradge, Hannah;
- Gribsholt, Sigrid Bjerge;
- Knox, Rachel;
- Page, Matthew;
- Harris, Julie;
- Payne, Felicity;
- Adams, Claire;
- Sleigh, Alison;
- Crawford, John;
- Gjesing, Anette Prior;
- Bork-Jensen, Jette;
- Pedersen, Oluf;
- Barroso, Inês;
- Hansen, Torben;
- Cox, Helen;
- Reilly, Mary;
- Rossor, Alex
Publication type:
Article
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
Published in:
Nature Genetics, 2012, v. 44, n. 8, p. 928, doi. 10.1038/ng.2332
By:
- Lindhurst, Marjorie J;
- Parker, Victoria E R;
- Payne, Felicity;
- Sapp, Julie C;
- Rudge, Simon;
- Harris, Julie;
- Witkowski, Alison M;
- Zhang, Qifeng;
- Groeneveld, Matthijs P;
- Scott, Carol E;
- Daly, Allan;
- Huson, Susan M;
- Tosi, Laura L;
- Cunningham, Michael L;
- Darling, Thomas N;
- Geer, Joseph;
- Gucev, Zoran;
- Sutton, V Reid;
- Tziotzios, Christos;
- Dixon, Adrian K
Publication type:
Article
Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes.
Published in:
Nature Genetics, 2012, v. 44, n. 3, p. 297, doi. 10.1038/ng.1053
By:
- Bonnefond, Amélie;
- Clément, Nathalie;
- Fawcett, Katherine;
- Yengo, Loïc;
- Vaillant, Emmanuel;
- Guillaume, Jean-Luc;
- Dechaume, Aurélie;
- Payne, Felicity;
- Roussel, Ronan;
- Czernichow, Sébastien;
- Hercberg, Serge;
- Hadjadj, Samy;
- Balkau, Beverley;
- Marre, Michel;
- Lantieri, Olivier;
- Langenberg, Claudia;
- Bouatia-Naji, Nabila;
- Charpentier, Guillaume;
- Vaxillaire, Martine;
- Rocheleau, Ghislain
Publication type:
Article
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
Published in:
Nature Genetics, 2007, v. 39, n. 7, p. 857, doi. 10.1038/ng2068
By:
- Todd, John A.;
- Walker, Neil M.;
- Cooper, Jason D.;
- Smyth, Deborah J.;
- Downes, Kate;
- Plagnol, Vincent;
- Bailey, Rebecca;
- Nejentsev, Sergey;
- Field, Sarah F.;
- Payne, Felicity;
- Lowe, Christopher E.;
- Szeszko, Jeffrey S.;
- Hafler, Jason P.;
- Zeitels, Lauren;
- Yang, Jennie H. M.;
- Vella, Adrian;
- Nutland, Sarah;
- Stevens, Helen E.;
- Schuilenburg, Helen;
- Coleman, Gillian
Publication type:
Article
Haplotype tagging for the identification of common disease genes.
Published in:
Nature Genetics, 2001, v. 29, n. 2, p. 233, doi. 10.1038/ng1001-233
By:
- Johnson, Gillian C.L.;
- Esposito, Laura;
- Barratt, Bryan J.;
- Smith, Annabel N.;
- Heward, Joanne;
- Di Genova, Gianfranco;
- Ueda, Hironori;
- Cordell, Heather J.;
- Eaves, Iain A.;
- Dudbridge, Frank;
- Twells, Rebecca C.J.;
- Payne, Felicity;
- Hughes, Wil;
- Nutland, Sarah;
- Stevens, Helen;
- Carr, Phillipa;
- Tuomilehto-Wolf, Eva;
- Tuomilehto, Jaakko;
- Gough, Stephen C.L.
Publication type:
Article
Conjunctival fibrosis and the innate barriers to Chlamydia trachomatis intracellular infection: a genome wide association study.
Published in:
Scientific Reports, 2015, v. 5, n. 1, p. 17447, doi. 10.1038/srep17447
By:
- Roberts, Chrissy h.;
- Franklin, Christopher S.;
- Makalo, Pateh;
- Joof, Hassan;
- Sarr, Isatou;
- Mahdi, Olaimatu S.;
- Sillah, Ansumana;
- Bah, Momodou;
- Payne, Felicity;
- Jeffreys, Anna E.;
- Bottomley, William;
- Natividad, Angels;
- Molina-Gonzalez, Sandra;
- Burr, Sarah E.;
- Preston, Mark;
- Kwiatkowski, Dominic;
- Rockett, Kirk A.;
- Clark, Taane G.;
- Burton, Matthew J.;
- Mabey, David C. W.
Publication type:
Article
Linkage and association mapping of the LRP5 locus on chromosome 11q13 in type 1 diabetes.
Published in:
Human Genetics, 2003, v. 113, n. 2, p. 99, doi. 10.1007/s00439-003-0940-6
By:
- Twells, Rebecca C. J.;
- Mein, Charles A.;
- Payne, Felicity;
- Veijola, Riitta;
- Gilbey, Matthew;
- Bright, Matthew;
- Timms, Andrew;
- Nakagawa, Yusuke;
- Snook, Hywel;
- Nutland, Sarah;
- Rance, Helen E.;
- Carr, Philippa;
- Dudbridge, Frank;
- Cordell, Heather J.;
- Cooper, Jason;
- Tuomilehto-Wolf, Eva;
- Tuomilehto, Jaakko;
- Phillips, Michael;
- Metzker, Michael;
- Hess, J. Fred
Publication type:
Article
An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02954-5
By:
- Welters, Alena;
- Leiter, Sarah M;
- Bachmann, Nadine;
- Bergmann, Carsten;
- Hoermann, Henrike;
- Korsch, Eckhard;
- Meissner, Thomas;
- Payne, Felicity;
- Williams, Rachel;
- Hussain, Khalid;
- Semple, Robert K.;
- Kummer, Sebastian
Publication type:
Article
Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.
Published in:
European Journal of Endocrinology, 2017, v. 177, n. 2, p. 175, doi. 10.1530/EJE-17-0132
By:
- Leiter, Sarah M.;
- Parker, Victoria E. R.;
- Welters, Alena;
- Knox, Rachel;
- Rocha, Nuno;
- Clark, Graeme;
- Payne, Felicity;
- Lotta, Luca;
- Harris, Julie;
- Guerrero-Fernández, Julio;
- González-Casado, Isabel;
- García-Miñaur, Sixto;
- Gordo, Gema;
- Wareham, Nick;
- Martínez-Glez, Víctor;
- Allison, Michael;
- O’Rahilly, Stephen;
- Barroso, Inês;
- Meissner, Thomas;
- Davies, Susan
Publication type:
Article
Polymorphism discovery and association analyses of the interferon genes in type 1 diabetes.
Published in:
BMC Genetics, 2006, v. 7, p. 12
By:
- Morris, Gerard AJ;
- Lowe, Christopher E;
- Cooper, Jason D;
- Payne, Felicity;
- Vella, Adrian;
- Godfrey, Lisa;
- Hulme, John S;
- Walker, Neil M;
- Healy, Barry C;
- Lam, Alex C;
- Lyons, Paul A;
- Todd, John A
Publication type:
Article
Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes.
Published in:
BMC Genetics, 2005, v. 6, p. 9, doi. 10.1186/1471-2156-6-9
By:
- Maier, Lisa M;
- Smyth, Deborah J;
- Vella, Adrian;
- Payne, Felicity;
- Cooper, Jason D;
- Pask, Rebecca;
- Lowe, Christopher;
- Hulme, John;
- Smink, Luc J;
- Fraser, Heather;
- Moule, Carolyn;
- Hunter, Kara M;
- Chamberlain, Giselle;
- Walker, Neil;
- Nutland, Sarah;
- Undlien, Dag E;
- Rønningen, Kjersti S;
- Guja, Cristian;
- Ionescu-Tirgovişte, Constantin;
- Savage, David A
Publication type:
Article
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease.
Published in:
Nature, 2003, v. 423, n. 6939, p. 506, doi. 10.1038/nature01621
By:
- Ueda, Hironori;
- Howson, Joanna M. M.;
- Esposito, Laura;
- Heward, Joanne;
- Snook, Hywel;
- Chamberlain, Giselle;
- Rainbow, Daniel B.;
- Hunter, Kara M. D.;
- Smith, Annabel N.;
- Di Genova, Gianfranco;
- Herr, Mathias H.;
- Dahlman, Ingrid;
- Payne, Felicity;
- Smyth, Deborah;
- Lowe, Christopher;
- Twells, Rebecca C. J.;
- Howlett, Sarah;
- Healy, Barry;
- Nutland, Sarah
Publication type:
Article
Disease-associated DNA methylation signatures in esophageal biopsies of children diagnosed with Eosinophilic Esophagitis.
Published in:
Clinical Epigenetics, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13148-021-01072-y
By:
- Strisciuglio, Caterina;
- Payne, Felicity;
- Nayak, Komal;
- Andreozzi, Marialuisa;
- Vitale, Alessandra;
- Miele, Erasmo;
- Zilbauer, Matthias
Publication type:
Article
Remapping the insulin gene/IDDM2 locus in type 1 diabetes.
Published in:
2004
By:
- Barratt, Bryan J.;
- Payne, Felicity;
- Lowe, Chris E.;
- Hermann, Robert;
- Healy, Barry C.;
- Clayton, David G.;
- Cordell, Heather J.;
- Todd, John A.;
- Harold, Denise;
- Olavesen, Mark G.;
- Bennett, Simon T.;
- Concannon, Patrick;
- Gharani, Neda;
- McCarthy, Mark I.;
- McCormack, Rose;
- Guja, Cristian;
- Ionescu-Tîgovište, Constantin;
- Undlien, Dag E.;
- Rønningen, Kjersti S.;
- Gillespie, Kathleen M.
Publication type:
journal article
Analysis of the type 2 diabetes-associated single nucleotide polymorphisms in the genes IRS1, KCNJ11, and PPARG2 in type 1 diabetes.
Published in:
2004
By:
- Eftychi, Christina;
- Howson, Joanna M. M.;
- Barratt, Bryan J.;
- Vella, Adrian;
- Payne, Felicity;
- Smyth, Deborah J.;
- Twells, Rebecca C. J.;
- Walker, Neil M.;
- Rance, Helen E.;
- Tuomilehto-Wolf, Eva;
- Tuomilehto, Jaakko;
- Undlien, Dag E.;
- Rønningen, Kjersti S.;
- Guja, Cristian;
- Ionescu-Tîrgoviste, Constantin;
- Savage, David A.;
- Todd, John A.;
- Rønningen, Kjersti S;
- Ionescu-Tîirgovişte, Constantin
Publication type:
journal article
Haplotype tag single nucleotide polymorphism analysis of the human orthologues of the rat type 1 diabetes genes Ian4 (Lyp/Iddm1) and Cblb.
Published in:
2004
By:
- Payne, Felicity;
- Smyth, Deborah J.;
- Pask, Rebecca;
- Barratt, Bryan J.;
- Cooper, Jason D.;
- Twells, Rebecca C.J.;
- Walker, Neil M.;
- Lam, Alex C.;
- Smink, Luc J.;
- Nutland, Sarah;
- Rance, Helen E.;
- Todd, John A.
Publication type:
journal article
A comprehensive, statistically powered analysis of GAD2 in type 1 diabetes.
Published in:
2002
By:
- Johnson, Gillian C.L.;
- Payne, Felicity;
- Nutland, Sarah;
- Stevens, Helen;
- Tuomilehto-Wolf, Eva;
- Tuomilehto, Jaakko;
- Todd, John A.
Publication type:
journal article
Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 3, p. 535, doi. 10.1093/hmg/ddp522
By:
- Perry, John R.B.;
- Weedon, Michael N.;
- Langenberg, Claudia;
- Jackson, Anne U.;
- Lyssenko, Valeriya;
- Sparsø, Thomas;
- Thorleifsson, Gudmar;
- Grallert, Harald;
- Ferrucci, Luigi;
- Maggio, Marcello;
- Paolisso, Giuseppe;
- Walker, Mark;
- Palmer, Colin N.A.;
- Payne, Felicity;
- Young, Elizabeth;
- Herder, Christian;
- Narisu, Narisu;
- Morken, Mario A.;
- Bonnycastle, Lori L.;
- Owen, Katharine R.
Publication type:
Article
Replication and extension of genome-wide association study results for obesity in 4923 adults from northern Sweden.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 8, p. 1489
By:
- Renström, Frida;
- Payne, Felicity;
- Nordström, Anna;
- Brito, Ema C.;
- Rolandsson, Olov;
- Hallmans, Göran;
- Barroso, Ines;
- Nordström, Peter;
- Franks, Paul W.
Publication type:
Article
The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot beexcluded from having effects in type 1 diabetes.
Published in:
BMC Medical Genetics, 2007, v. 8, p. 71, doi. 10.1186/1471-2350-8-71
By:
- Cooper, Jason D.;
- Smyth, Deborah J.;
- Bailey, Rebecca;
- Payne, Felicity;
- Downes, Kate;
- Godfrey, Lisa M.;
- Masters, Jennifer;
- Zeitels, Lauren R.;
- Vella, Adrian;
- Walker, Neil M.;
- Todd, John A.
Publication type:
Article
Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases.
Published in:
BMC Medical Genetics, 2006, v. 7, p. 20, doi. 10.1186/1471-2350-7-20
By:
- Smyth, Deborah J;
- Howson, Joanna MM;
- Payne, Felicity;
- Maier, Lisa M;
- Bailey, Rebecca;
- Holland, Kieran;
- Lowe, Christopher E;
- Cooper, Jason D;
- Hulme, John S;
- Vella, Adrian;
- Dahlman, Ingrid;
- Lam, Alex C;
- Nutland, Sarah;
- Walker, Neil M;
- Twells, Rebecca CJ;
- Todd, John A
Publication type:
Article

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