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Rare variants in single-minded 1 (SIM1) are associated with severe obesity.
Published in:
Journal of Clinical Investigation, 2013, v. 123, n. 7, p. 3042, doi. 10.1172/JCI68016
By:
- Ramachandrappa, Shwetha;
- Raimondo, Anne;
- Cali, Anna M. G.;
- Keogh, Julia M.;
- Henning, Elana;
- Saeed, Sadia;
- Thompson, Amanda;
- Garg, Sumedha;
- Bochukova, Elena G.;
- Brage, Soren;
- Trowse, Victoria;
- Wheeler, Eleanor;
- Sullivan, Adrienne E.;
- Dattani, Mehul;
- Clayton, Peter E.;
- Datta, Vippan;
- Bruning, John B.;
- Wareham, Nick J.;
- O’Rahilly, Stephen;
- Peet, Daniel J.
Publication type:
Article
Human SH2B1 mutations are associated with maladaptive behaviors and obesity.
Published in:
Journal of Clinical Investigation, 2012, v. 122, n. 12, p. 4732, doi. 10.1172/JCI62696
By:
- Doche, Michael E.;
- Bochukova, Elena G.;
- Hsiao-Wen Su;
- Pearce, Laura R.;
- Keogh, Julia M.;
- Henning, Elana;
- Cline, Joel M.;
- Dale, Anne;
- Cheetham, Tim;
- Barroso, Inês;
- Argetsinger, Lawrence S.;
- O'Rahilly, Stephen;
- Liangyou Rui;
- Christin Carter-Su;
- Farooqi, I. Sadaf
Publication type:
Article
Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.
Published in:
Nature Genetics, 2013, v. 45, n. 9, p. 1055, doi. 10.1038/ng.2716
By:
- Azizan, Elena A B;
- Poulsen, Hanne;
- Tuluc, Petronel;
- Zhou, Junhua;
- Clausen, Michael V;
- Lieb, Andreas;
- Maniero, Carmela;
- Garg, Sumedha;
- Bochukova, Elena G;
- Zhao, Wanfeng;
- Shaikh, Lalarukh Haris;
- Brighton, Cheryl A;
- Teo, Ada E D;
- Davenport, Anthony P;
- Dekkers, Tanja;
- Tops, Bas;
- Küsters, Benno;
- Ceral, Jiri;
- Yeo, Giles S H;
- Neogi, Sudeshna Guha
Publication type:
Article
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
Published in:
Nature Genetics, 2013, v. 45, n. 5, p. 513, doi. 10.1038/ng.2607
By:
- Wheeler, Eleanor;
- Huang, Ni;
- Bochukova, Elena G;
- Keogh, Julia M;
- Lindsay, Sarah;
- Garg, Sumedha;
- Henning, Elana;
- Blackburn, Hannah;
- Loos, Ruth J F;
- Wareham, Nick J;
- O'Rahilly, Stephen;
- Hurles, Matthew E;
- Barroso, Inês;
- Farooqi, I Sadaf
Publication type:
Article
CNV Analysis in Tourette Syndrome Implicates Large Genomic Rearrangements in <i>COL8A1</i> and <i>NRXN1</i>.
Published in:
PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0059061
By:
- Nag, Abhishek;
- Bochukova, Elena G.;
- Kremeyer, Barbara;
- Campbell, Desmond D.;
- Muller, Heike;
- Valencia-Duarte, Ana V.;
- Cardona, Julio;
- Rivas, Isabel C.;
- Mesa, Sandra C.;
- Cuartas, Mauricio;
- Garcia, Jharley;
- Bedoya, Gabriel;
- Cornejo, William;
- Herrera, Luis D.;
- Romero, Roxana;
- Fournier, Eduardo;
- Reus, Victor I.;
- Lowe, Thomas L.;
- Farooqi, I. Sadaf;
- Mathews, Carol A.
Publication type:
Article
Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-08737-6
By:
- Yang, Yongjie;
- van der Klaauw, Agatha A.;
- Zhu, Liangru;
- Cacciottolo, Tessa M.;
- He, Yanlin;
- Stadler, Lukas K. J.;
- Wang, Chunmei;
- Xu, Pingwen;
- Saito, Kenji;
- Hinton, Antentor;
- Yan, Xiaofeng;
- Keogh, Julia M.;
- Henning, Elana;
- Banton, Matthew C.;
- Hendricks, Audrey E.;
- Bochukova, Elena G.;
- Mistry, Vanisha;
- Lawler, Katherine L.;
- Liao, Lan;
- Xu, Jianming
Publication type:
Article
Large, rare chromosomal deletions associated with severe early-onset obesity.
Published in:
Nature, 2010, v. 463, n. 7281, p. 666, doi. 10.1038/nature08689
By:
- Bochukova, Elena G.;
- Ni Huang;
- Keogh, Julia;
- Henning, Elana;
- Purmann, Carolin;
- Blaszczyk, Kasia;
- Saeed, Sadia;
- Hamilton-Shield, Julian;
- Clayton-Smith, Jill;
- O'Rahilly, Stephen;
- Hurles, Matthew E.;
- Farooqi, I. Sadaf
Publication type:
Article
Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.
Published in:
Human Mutation, 2009, v. 30, n. 2, p. 204, doi. 10.1002/humu.20825
By:
- Bochukova, Elena G.;
- Roscioli, Tony;
- Hedges, Dale J.;
- Taylor, Indira B.;
- Johnson, David;
- David, David J.;
- Deininger, Prescott L.;
- Wilkie, Andrew O.M.
Publication type:
Article
Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis.
Published in:
Human Molecular Genetics, 2006, v. 15, n. 8, p. 1319, doi. 10.1093/hmg/ddl052
By:
- Merrill, Amy E.;
- Bochukova, Elena G.;
- Brugger, Sean M.;
- Ishii, Mamoru;
- Pilz, Daniela T.;
- Wall, Steven A.;
- Lyons, Karen M.;
- Wilkie, Andrew O.M.;
- Maxson, Robert E.
Publication type:
Article

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