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

por van de Bunt, Martijn, Edghill, Emma L., Hussain, Khalid, Ellard, Sian, Gloyn, Anna L.
Publicado 2008

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

por Oram, Richard A., Edghill, Emma L., Woolf, Adrian S., Hennekam, R. C., Ellard, Sian, Hattersley, A. T., Bingham, Coralie
Publicado en NDT Plus (2009)

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

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

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

por 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.
Publicado en Diabetes (2007)

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

por 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
Publicado 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...

por 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.
Publicado 2009

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

por 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. 
Publicado 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

por 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.
Publicado 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...

por 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
Publicado en Diabetes (2008)

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

por 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.
Publicado 2014

Insulin gene mutations as a cause of permanent neonatal diabetes

por 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.
Publicado 2007

HNF1B Mutations Associate with Hypomagnesemia and Renal Magnesium Wasting

por 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
Publicado 2009

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

por 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.
Publicado 2010