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Frayling, Timothy M., Timpson, Nicholas J., Weedon, Michael N., Zeggini, Eleftheria, Freathy, Rachel M., Lindgren, Cecilia M., Perry, John R. B., Elliott, Katherine S., Lango, Hana, Rayner, Nigel W., Shields, Beverley, Harries, Lorna W., Barrett, Jeffrey C., Ellard, Sian, Groves, Christopher J., Knight, Bridget, Patch, Ann-Marie, Ness, Andrew R., Ebrahim, Shah, Lawlor, Debbie A., Ring, Susan M., Ben-Shlomo, Yoav, Jarvelin, Marjo-Riitta, Sovio, Ulla, Bennett, Amanda J., Melzer, David, Ferrucci, Luigi, Loos, Ruth J. F., Barroso, Inês, Wareham, Nicholas J., Karpe, Fredrik, Owen, Katharine R., Cardon, Lon R., Walker, Mark, Hitman, Graham A., Palmer, Colin N. A., Doney, Alex S. F.Graham A., Morris, Andrew D., Smith, George Davey, Hattersley, Andrew T., McCarthy, Mark I. and Wellcome Trust Case Control (2007) A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science, 316 5826: 889-894. doi:10.1126/science.1141634 121   1708 Cited 1710 times in Scopus1710 102
Rafiq, Meena, Flanagan, Sarah E., Patch, Ann-Marie, Shields, Beverley M., Ellard, Sian, Hattersley, Andrew T. and Neonatal Diabetes International Collaborative Group (2008) Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. Diabetes Care, 31 2: 204-209. doi:10.2337/dc07-1785 38   74 Cited 93 times in Scopus93 0
Flanagan, Sarah, Edghill, Emma, Patch, Ann-Marie, Minton, Jayne, Ellard, Sian and Hattersley, Andrew (2008). Genetic heterogeneity in permanent neonatal diabetes. In: 47th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Istanbul, Turkey, (38-38). 20-23 September 2008. 32   0
Flanagan, Sarah E., Patch, Ann-Marie, Locke, Jonathan M., Akcay, Teoman, Simsek, Enver, Alaei, Mohammadreza, Yekta, Zeinab, Desai, Meena, Kapoor, Ritika R., Hussain, Khalid and Ellard, Sian (2011) Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. Journal of Clinical Endocrinology and Metabolism, 96 3: E498-E502. doi:10.1210/jc.2010-1906 45   16 Cited 18 times in Scopus18 0
De Wet, Heidi, Rees, Mathew G., Shimomura, Kenju, Aittoniemi, Jussi, Patch, Ann-Marie, Flanagan, Sarah E., Ellard, Sian, Hattersley, Andrew T., Sansom, Mark S. P. and Ashcroft, Frances M. (2007) Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes. Proceedings of the National Academy of Sciences of the United States of America, 104 48: 18988-18992. doi:10.1073/pnas.0707428104 38   26 Cited 29 times in Scopus29 0
Støy, Julie, Edghill, Emma L., Flanagan, Sarah E., Ye, Honggang, Paz, Veronica P., Pluzhnikov, Anna, Below, Jennifer E., Hayes, M. Geoffrey, Cox, Nancy J., Lipkind, Gregory M., Lipton, Rebecca B., Greeley, Siri Atma W., Patch, Ann-Marie, Ellard, Sian, Steiner, Donald F., Hattersley, Andrew T., Philipson, Louis H. and Bell, Graeme I. (2007) Insulin gene mutations as a cause of permanent neonatal diabetes. Proceedings of the National Academy of Sciences of USA, 104 38: 15040-15044. doi:10.1073/pnas.0707291104 38   194 Cited 222 times in Scopus222 0
Edghill, Emma L., Flanagan, Sarah E., Patch, Ann-Marie, Boustred, Chris, Parrish, Andrew, Shields, Beverley, Shepherd, Maggie H., Hussain, Khalid, Kapoor, Ritika R., Malecki, Maciej, MacDonald, Michael J., Støy, Julie, Steiner, Donald F., Philipson, Louis H., Bell, Graeme I., The Neonatal Diabetes International Collaborative Group, Hattersley, Andrew T. and Ellard, Sian (2008) Insulin mutation screening in 1,044 patients with diabetes: Mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes, 57 4: 1034-1042. doi:10.2337/db07-1405 51   127 Cited 147 times in Scopus147 0
Hanley, Karen Piper, Hearn, Tom, Berry, Andrew, Carvell, Melanie J., Patch, Ann-Marie, Williams, Louise J., Sugden, Sarah A., Wilson, David I., Ellard, Sian and Hanley, Neil A. (2010) In vitro expression of NGN3 identifies RAB3B as the predominant Ras-associated GTP-binding protein 3 family member in human islets. Journal of Endocrinology, 207 2: 151-161. doi:10.1677/JOE-10-0120 32   8 Cited 8 times in Scopus8 0
Flanagan, Sarah E., Patch, Ann-Marie, Mackay, Deborah J. G., Edghill, Emma L., Gloyn, Anna L., Robinson, David, Shield, Julian P. H., Temple, Karen, Ellard, Sian and Hattersley, Andrew T. (2007) Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes, 56 7: 1930-1937. doi:10.2337/db07-0043 36   134 Cited 152 times in Scopus152 0
Ellard, Sian, Flanagan, Sarah E., Girard, Christophe A., Patch, Ann-Marie, Harries, Lorna W., Parrish, Andrew, Edghill, Emma L., Mackay, Deborah J. G., Proks, Peter, Shimomura, Kenju, Haberland, Holger, Carson, Dennis J., Sheild, Julian P. H., Hattersley, Andrew T. and Ashcroft, Frances M. (2007) Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. American Journal of Human Genetics, 81 2: 375-382. doi:10.1086/519174 53   75 Cited 90 times in Scopus90 0
Garin, Intza, Edghill, Emma L., Akerman, Ildem, Rubio-Cabezas, Oscar, Rica, Itxaso, Locke, Jonathan M., Maestro, Miguel Angel, Alshaikh, Adnan, Bundak, Ruveyde, del Castillo, Gabriel, Deeb, Asma, Deiss, Dorothee, Fernandez, Juan M., Godbole, Koumudi, Hussain, Khalid, O'Connell, Michele, Klupa, Thomasz, Kolouskova, Stanislava, Mohsin, Fauzia, Perlman, Kusiel, Sumnik, Zdenek, Rial, Jose M., Ugarte, Estibaliz, Vasanthi, Thiruvengadam, Neonatal Diabetes International Group, Johnstone, Karen, Flanagan, Sarah E., Martinez, Rosa, Castano, Carlos, Patch, Ann-Marie, Fernandez-Rebollo, Eduardo, Raile, Klemens, Morgan, Noel, Harries, Lorna W., Castano, Luis, Ellard, Sian, Ferrer, Jorge, de Nanclares, Guiomar Perez and Hattersley, Andrew T. (2010) Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proceedings of the National Academy of Sciences of the USA, 107 7: 3105-3110. doi:10.1073/pnas.0910533107 80   49 Cited 56 times in Scopus56 1
Shaw-Smith, Charles, Flanagan, Sarah E., Patch, Ann-Marie, Grulich-Henn, Juergen, Habeb, Abdelhadi M., Hussain, Khalid, Pomahacova, Renata, Matyka, Krystyna, Abdullah, Mohamed, Hattersley, Andrew T. and Ellard, Sian (2012) Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia. Pediatric Diabetes, 13 4: 307-314. doi:10.1111/j.1399-5448.2012.00855.x 32   0 Cited 5 times in Scopus5 0
Flanagan, Sarah E., Patch, Ann-Marie and Ellard, Sian (2010) Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genetic Testing and Molecular Biomarkers, 14 4: 533-537. doi:10.1089/gtmb.2010.0036 148   62 Cited 68 times in Scopus68 0
Rubio-Cabezas, Oscar, Patch, Ann-Marie, Minton, Jayne A. L., Flanagan, Sarah E., Edghill, Emma L., Hussain, Khalid, Balafrej, Amina, Deeb, Asma, Buchanan, Charles R., Jefferson, Ian G., Mutair, Angham, The Neonatal Diabetes International Collaborative Group, Hattersley, Andrew T. and Ellard, Sian (2009) Wolcott-Rallison Syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. The Journal of Clinical Endocrinology and Metabolism, 94 11: 4162-4170. doi:10.1210/jc.2009-1137 60   37 Cited 36 times in Scopus36 0