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 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

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

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