Works by O'Rahilly, Stephen


Results: 174
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    Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome.

    Published in:
    2018
    By:
    • Polex-Wolf, Joseph;
    • Lam, Brian Y. H.;
    • Larder, Rachel;
    • Tadross, John;
    • Rimmington, Debra;
    • Bosch, Fàtima;
    • Jiménez Cenzano, Verónica;
    • Ayuso, Eduard;
    • Ma, Marcella K. L.;
    • Rainbow, Kara;
    • Coll, Anthony P.;
    • O’Rahilly, Stephen;
    • Yeo, Giles S. H.;
    • Lam, Brian Yh;
    • Cenzano, Verónica Jiménez;
    • Ma, Marcella Kl;
    • O'Rahilly, Stephen;
    • Yeo, Giles Sh
    Publication type:
    journal article
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    A Pharmacogenetic Approach to the Treatment of Patients With Mutations.

    Published in:
    2018
    By:
    • Agostini, Maura;
    • Schoenmakers, Erik;
    • Beig, Junaid;
    • Fairall, Louise;
    • Szatmari, Istvan;
    • Rajanayagam, Odelia;
    • Muskett, Frederick W.;
    • Adams, Claire;
    • Marais, A. David;
    • O’Rahilly, Stephen;
    • Semple, Robert K.;
    • Nagy, Laszlo;
    • Majithia, Amit R.;
    • Schwabe, John W. R.;
    • Blom, Dirk J.;
    • Murphy, Rinki;
    • Chatterjee, Krishna;
    • Savage, David B.;
    • O'Rahilly, Stephen
    Publication type:
    journal article
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    A Prevalent Variant in PPP1R3A Impairs Glycogen Synthesis and Reduces Muscle Glycogen Content in Humans and Mice.

    Published in:
    PLoS Medicine, 2008, v. 5, n. 1, p. e27, doi. 10.1371/journal.pmed.0050027
    By:
    • Savage, David B.;
    • Lanmin Zhai;
    • Ravikumar, Balasubramanian;
    • Cheol Soo Choi;
    • Snaar, Johanna E.;
    • McGuire, Amanda C.;
    • Sung-Eun Wou;
    • Medina-Gomez, Gemma;
    • Sheene Kim;
    • Bock, Cheryl B.;
    • Segvich, Dyann M.;
    • Vidal-Puig, Antonio;
    • Wareham, Nicholas J.;
    • Shulman, Gerald I.;
    • Karpe, Fredrik;
    • Taylor, Roy;
    • Pederson, Bartholomew A.;
    • Roach, Peter J.;
    • O'Rahilly, Stephen;
    • DePaoli-Roach, Anna A.
    Publication type:
    Article
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    Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE.

    Published in:
    Human Mutation, 2007, v. 28, n. 3, p. 294, doi. 10.1002/humu.20404
    By:
    • Alharbi, Khalid K.;
    • Spanakis, Emmanuel;
    • Tan, Karen;
    • Smith, Matt J.;
    • Aldahmesh, Mohammed A.;
    • O'Dell, Sandra D.;
    • Sayer, Avan Aihie;
    • Lawlor, Debbie A.;
    • Ebrahim, Shah;
    • Davey Smith, George;
    • O'Rahilly, Stephen;
    • Farooqi, Sadaf;
    • Cooper, Cyrus;
    • Phillips, David I.W.;
    • Day, Ian N.M.
    Publication type:
    Article
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    Melanocortin receptors weigh in.

    Published in:
    Nature Medicine, 2004, v. 10, n. 4, p. 351, doi. 10.1038/nm0404-351
    By:
    • O'Rahilly, Stephen;
    • Yeo, Giles S. H.;
    • Farooqi, I. Sadaf
    Publication type:
    Article
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    An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.

    Published in:
    Nature Genetics, 2013, v. 45, n. 8, p. 947, doi. 10.1038/ng.2670
    By:
    • Weedon, Michael N;
    • Ellard, Sian;
    • Prindle, Marc J;
    • Caswell, Richard;
    • Allen, Hana Lango;
    • Oram, Richard;
    • Godbole, Koumudi;
    • Yajnik, Chittaranjan S;
    • Sbraccia, Paolo;
    • Novelli, Giuseppe;
    • Turnpenny, Peter;
    • McCann, Emma;
    • Goh, Kim Jee;
    • Wang, Yukai;
    • Fulford, Jonathan;
    • McCulloch, Laura J;
    • Savage, David B;
    • O'Rahilly, Stephen;
    • Kos, Katarina;
    • Loeb, Lawrence A
    Publication type:
    Article
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    Digenic inheritance of severe insulin resistance in a human pedigree.

    Published in:
    Nature Genetics, 2002, v. 31, n. 4, p. 379, doi. 10.1038/ng926
    By:
    • Savage, David B.;
    • Agostini, Maura;
    • Barroso, Inês;
    • Gurnell, Mark;
    • Luan, Jian'an;
    • Meirhaeghe, Aline;
    • Harding, Anne-Helen;
    • Ihrke, Gudrun;
    • Rajanayagam, Odelia;
    • Soos, Maria A.;
    • George, Stella;
    • Berger, Dirk;
    • Thomas, E. Louise;
    • Bell, Jimmy D.;
    • Meeran, Karim;
    • Ross, Richard J.;
    • Vidal-Puig, Antonio;
    • Wareham, Nicholas J.;
    • O'Rahilly, Stephen;
    • Chatterjee, V. Krishna K.
    Publication type:
    Article
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    LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

    Published in:
    Nature Genetics, 2000, v. 24, n. 2, p. 153, doi. 10.1038/72807
    By:
    • Shackleton, Sue;
    • Lloyd, David J.;
    • Jackson, Stephen N.J.;
    • Evans, Richard;
    • Niermeijer, Martinus F.;
    • Singh, Baldev M.;
    • Schmidt, Hartmut;
    • Brabant, Georg;
    • Kumar, Sudesh;
    • Durrington, Paul N.;
    • Gregory, Simon;
    • O'Rahilly, Stephen;
    • Trembath, Richard C.
    Publication type:
    Article
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    Complement abnormalities in acquired lipodystrophy revisited.

    Published in:
    2009
    By:
    • Savage, David B;
    • Semple, Robert K;
    • Clatworthy, Menna R;
    • Lyons, Paul A;
    • Morgan, B Paul;
    • Cochran, Elaine K;
    • Gorden, Phillip;
    • Raymond-Barker, Philippa;
    • Murgatroyd, Peter R;
    • Adams, Claire;
    • Scobie, Ian;
    • Mufti, Ghulam J;
    • Alexander, Graeme J M;
    • Thiru, Sathia;
    • Murano, Incoronata;
    • Cinti, Saverio;
    • Chaudhry, Afzal N;
    • Smith, Kenneth G C;
    • O'Rahilly, Stephen
    Publication type:
    journal article
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    Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 4, p. 1129, doi. 10.1210/jc.2007-1328
    By:
    • Kim, C. A.;
    • Delépine, Marc;
    • Boutet, Emilie;
    • El Mourabit, Haquima;
    • Lay, Soazig Le;
    • Meier, Muriel;
    • Nemani, Mona;
    • Bridel, Etienne;
    • Leite, Claudia C.;
    • Bertola, Debora R.;
    • Semple, Robert K.;
    • O'Rahilly, Stephen;
    • Dugail, Isabelle;
    • Capeau, Jacqueline;
    • Lathrop, Mark;
    • Magré, Jocelyne
    Publication type:
    Article
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    Proteinuric Nephropathy in Acquired and Congenital Generalized Lipodystrophy: Baseline Characteristics and Course during Recombinant Leptin Therapy.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 7, p. 3199, doi. 10.1210/jc.2003-032140
    By:
    • JAVOR, EDWARD D.;
    • ANN MORAN, STEPHANIE;
    • YOUNG, JANICE RYAN;
    • COCHRAN, ELAINE K.;
    • DEPAOLI, ALEX M.;
    • ORAL, ELIF ARIOGLU;
    • TURMAN, MARTIN A.;
    • BLACKETT, PIERS R.;
    • SAVAGE, DAVID B.;
    • O’RAHILLY, STEPHEN;
    • BALOW, JAMES E.;
    • GORDEN, PHILLIP
    Publication type:
    Article
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    Phenotypic and Genetic Heterogeneity in Congenital Generalized Lipodystrophy.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 10, p. 4840, doi. 10.1210/jc.2003-030855
    By:
    • AGARWAL, ANIL K.;
    • SIMHA, VINAYA;
    • ARIOGLU ORAL, ELIF;
    • MORAN, STEPHANIE A.;
    • GORDEN, PHILLIP;
    • O’RAHILLY, STEPHEN;
    • ZAIDI, ZOHRA;
    • GURAKAN, FIGEN;
    • ARSLANIAN, SILVA A.;
    • KLAR, AHARON;
    • RICKER, ALYNE;
    • WHITE, NEIL H.;
    • BINDL, LUTZ;
    • HERBST, KAREN;
    • KENNEL, KURT;
    • PATEL, SHAILESH B.;
    • AL-GAZALI, LIHADH;
    • GARG, ABHIMANYU
    Publication type:
    Article
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    A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 9, p. 3390, doi. 10.1210/jcem.84.9.6103
    By:
    • Garg, Abhimanyu;
    • Wilson, Ross;
    • Barnes, Robert;
    • Arioglu, Elif;
    • Zaidi, Zohra;
    • Gurakan, Figen;
    • Kocak, Nurten;
    • O’Rahilly, Stephen;
    • Taylor, Simeon I.;
    • Patel, Shailendra B.;
    • Bowcock, Anne M.
    Publication type:
    Article
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    Murine neuronatin deficiency is associated with a hypervariable food intake and bimodal obesity.

    Published in:
    Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-96278-8
    By:
    • Cimino, Irene;
    • Rimmington, Debra;
    • Tung, Y. C. Loraine;
    • Lawler, Katherine;
    • Larraufie, Pierre;
    • Kay, Richard G.;
    • Virtue, Samuel;
    • Lam, Brian Y. H.;
    • Fagnocchi, Luca;
    • Ma, Marcella K. L.;
    • Saudek, Vladimir;
    • Zvetkova, Ilona;
    • Vidal-Puig, Antonio;
    • Yeo, Giles S. H.;
    • Farooqi, I. Sadaf;
    • Pospisilik, J. Andrew;
    • Gribble, Fiona M.;
    • Reimann, Frank;
    • O'Rahilly, Stephen;
    • Coll, Anthony P.
    Publication type:
    Article
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    Transcript and metabolite analysis of the effects of tamoxifen in rat liver reveals inhibition of fatty acid synthesis in the presence of hepatic steatosis.

    Published in:
    FASEB Journal, 2005, v. 19, n. 9, p. 1108, doi. 10.1096/fj.04-3196com
    By:
    • Lelliott, Christopher J.;
    • López, Miguel;
    • Keira Curtis, R.;
    • Parker, Nadeene;
    • Laudes, Matthias;
    • Yeo, Giles;
    • Jimenez-Liñan, Mercedes;
    • Grosse, Johannes;
    • Saha, Asish K.;
    • Wiggins, David;
    • Hauton, David;
    • Brand, Martin D.;
    • O'Rahilly, Stephen;
    • Griffin, Julian L.;
    • Gibbons, Geoffrey F.;
    • Vidal-Puig, Antonio
    Publication type:
    Article
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    The link between nutritional status and insulin sensitivity is dependent on the adipocyte-specific peroxisome proliferator-activated receptor-gamma2 isoform.

    Published in:
    2005
    By:
    • Medina-Gomez, Gema;
    • Virtue, Sam;
    • Lelliott, Christopher;
    • Boiani, Romina;
    • Campbell, Mark;
    • Christodoulides, Constantinos;
    • Perrin, Christophe;
    • Jimenez-Linan, Mercedes;
    • Blount, Margaret;
    • Dixon, John;
    • Zahn, Dirk;
    • Thresher, Rosemary R.;
    • Aparicio, Sam;
    • Carlton, Mark;
    • Colledge, William H.;
    • Kettunen, Mikko I.;
    • Seppänen-Laakso, Tuulikki;
    • Sethi, Jaswinder K.;
    • O'Rahilly, Stephen;
    • Brindle, Kevin
    Publication type:
    journal article
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