Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans

著者: van de Bunt, Martijn, Edghill, Emma L., Hussain, Khalid, Ellard, Sian, Gloyn, Anna L.
出版事項 2008

RET gene mutations are not a common cause of congenital solitary functioning kidney in adults

著者: Oram, Richard A., Edghill, Emma L., Woolf, Adrian S., Hennekam, R. C., Ellard, Sian, Hattersley, A. T., Bingham, Coralie
出版年 NDT Plus (2009)

Origin of de Novo KCNJ11 Mutations and Risk of Neonatal Diabetes for Subsequent Siblings

著者: Edghill, Emma L., Gloyn, Anna L., Goriely, Anne, Harries, Lorna W., Flanagan, Sarah E., Rankin, Julia, Hattersley, Andrew T., Ellard, Sian
出版年 J Clin Endocrinol Metab (2007)

Mutations in K(ATP) Channel Genes cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

著者: 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, Hattersley, Andrew T.
出版年 Diabetes (2007)

Wolcott-Rallison Syndrome Is the Most Common Genetic Cause of Permanent Neonatal Diabetes in Consanguineous Families

著者: 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, Hattersley, Andrew T., Ellard, Sian
出版事項 2009

Severe Insulin Resistance and Intrauterine Growth Deficiency Associated With Haploinsufficiency for INSR and CHN2: New Insights Into Synergistic Pathways Involved in Growth and Met...

著者: Suliman, Sara G.I., Stanik, Juraj, McCulloch, Laura J., Wilson, Natalie, Edghill, Emma L., Misovicova, Nadezda, Gasperikova, Daniela, Sandrikova, Vilja, Elliott, Katherine S., Barak, Lubomir, Ellard, Sian, Volpi, Emanuela V., Klimes, Iwar, Gloyn, Anna L.
出版事項 2009

Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional Effects

著者: 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. , Shield, Julian P. H. , Hattersley, Andrew T. , Ashcroft, Frances M. 
出版事項 2007

Insights Into the Pathogenicity of Rare Missense GCK Variants From the Identification and Functional Characterization of Compound Heterozygous and Double Mutations Inherited in Cis

著者: Beer, Nicola L., Osbak, Kara K., van de Bunt, Martijn, Tribble, Nicholas D., Steele, Anna M., Wensley, Kirsty J., Edghill, Emma L., Colcough, Kevin, Barrett, Amy, Valentínová, Lucia, Rundle, Jana K., Raimondo, Anne, Grimsby, Joseph, Ellard, Sian, Gloyn, Anna L.
出版事項 2012

Insulin Mutation Screening in 1044 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...

著者: 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., Hattersley, Andrew T., Ellard, Sian
出版年 Diabetes (2008)

Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man

著者: Flanagan, Sarah E., De Franco, Elisa, Lango Allen, Hana, Zerah, Michele, Abdul-Rasoul, Majedah M., Edge, Julie A., Stewart, Helen, Alamiri, Elham, Hussain, Khalid, Wallis, Sam, de Vries, Liat, Rubio-Cabezas, Oscar, Houghton, Jayne A.L., Edghill, Emma L., Patch, Ann-Marie, Ellard, Sian, Hattersley, Andrew T.
出版事項 2014

Insulin gene mutations as a cause of permanent neonatal diabetes

著者: 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., Bell, Graeme I.
出版事項 2007

HNF1B Mutations Associate with Hypomagnesemia and Renal Magnesium Wasting

著者: Adalat, Shazia, Woolf, Adrian S., Johnstone, Karen A., Wirsing, Andrea, Harries, Lorna W., Long, David A., Hennekam, Raoul C., Ledermann, Sarah E., Rees, Lesley, van't Hoff, William, Marks, Stephen D., Trompeter, Richard S., Tullus, Kjell, Winyard, Paul J., Cansick, Janette, Mushtaq, Imran, Dhillon, Harjeeta K., Bingham, Coralie, Edghill, Emma L., Shroff, Rukshana, Stanescu, Horia, Ryffel, Gerhart U., Ellard, Sian, Bockenhauer, Detlef
出版事項 2009

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

著者: 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, Johnstone, Karen, Flanagan, Sarah E., Martínez, Rosa, Castaño, Carlos, Patch, Ann-Marie, Fernández-Rebollo, Eduardo, Raile, Klemens, Morgan, Noel, Harries, Lorna W., Castaño, Luis, Ellard, Sian, Ferrer, Jorge, de Nanclares, Guiomar Perez, Hattersley, Andrew T.
出版事項 2010