Rho- and Rac-dependent Assembly of Focal Adhesion Complexes and Actin Filaments in Permeabilized Fibroblasts: An Essential Role for Ezrin/Radixin/Moesin Proteins

por Mackay, Deborah J.G., Esch, Fred, Furthmayr, Heinz, Hall, Alan
Publicado 1997

Transient Neonatal Diabetes Mellitus followed by recurrent asymptomatic hypoglycaemia: a case report

por Priyadarshi, Archana, Verge, Charles F., Vandervliet, Leah, Mackay, Deborah JG, Bolisetty, Srinivas
Publicado 2015

Transient Neonatal Diabetes Mellitus in a Turkish Patient with Three Novel Homozygous Variants in the ZFP57 Gene

por Boyraz, Mehmet, Ulucan, Korkut, Taşkın, Necati, Akçay, Teoman, Flanagan, Sarah E., Mackay, Deborah J.G.
Publicado 2013

Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b

por Rezwan, Faisal I, Poole, Rebecca L, Prescott, Trine, Walker, Joanna M, Karen Temple, I, Mackay, Deborah JG
Publicado 2015

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

por De Franco, Elisa, Flanagan, Sarah E, Houghton, Jayne AL, Allen, Hana Lango, Mackay, Deborah JG, Temple, I Karen, Ellard, Sian, Hattersley, Andrew T
Publicado 2015

A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders

por Rezwan, Faisal I, Docherty, Louise E, Poole, Rebecca L, Lockett, Gabrielle A, Arshad, S Hasan, Holloway, John W, Temple, I Karen, Mackay, Deborah JG
Publicado 2015

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes

por Mackay, Deborah J.G., Bliek, Jet, Lombardi, Maria Paola, Russo, Silvia, Calzari, Luciano, Guzzetti, Sara, Izzi, Claudia, Selicorni, Angelo, Melis, Daniela, Temple, Karen, Maher, Eamonn, Brioude, Frédéric, Netchine, Irène, Eggermann, Thomas
Publicado 2019

Insights Into the Molecular Mechanism for Type 2 Diabetes Susceptibility at the KCNQ1 Locus From Temporal Changes in Imprinting Status in Human Islets

por Travers, Mary E., Mackay, Deborah J.G., Dekker Nitert, Marloes, Morris, Andrew P., Lindgren, Cecilia M., Berry, Andrew, Johnson, Paul R., Hanley, Neil, Groop, Leif C., McCarthy, Mark I., Gloyn, Anna L.
Publicado 2013

Role of Noninsulin Therapies Alone or in Combination in Chromosome 6q24-Related Transient Neonatal Diabetes: Sulfonylurea Improves but Does Not Always Normalize Insulin Secretion

por Carmody, David, Beca, Flavius A., Bell, Charles D., Hwang, Jessica L., Dickens, Jazzmyne T., Devine, Nancy A., Mackay, Deborah J.G., Temple, I. Karen, Hays, Lisa R., Naylor, Rochelle N., Philipson, Louis H., Greeley, Siri Atma W.
Publicado 2015

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome

por Eggermann, Katja, Bliek, Jet, Brioude, Frédéric, Algar, Elizabeth, Buiting, Karin, Russo, Silvia, Tümer, Zeynep, Monk, David, Moore, Gudrun, Antoniadi, Thalia, Macdonald, Fiona, Netchine, Irène, Lombardi, Paolo, Soellner, Lukas, Begemann, Matthias, Prawitt, Dirk, Maher, Eamonn R, Mannens, Marcel, Riccio, Andrea, Weksberg, Rosanna, Lapunzina, Pablo, Grønskov, Karen, Mackay, Deborah JG, Eggermann, Thomas
Publicado 2016

Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci: A detailed follow-up

por Boonen, Susanne E., Mackay, Deborah J.G., Hahnemann, Johanne M.D., Docherty, Louise, Grønskov, Karen, Lehmann, Anna, Larsen, Lise G., Haemers, Andreas P., Kockaerts, Yves, Dooms, Lutgarde, Vũ, Dũng Chí, Ngoc, C.T. Bich, Nguyen, Phuong Bich, Kordonouri, Olga, Sundberg, Frida, Dayanikli, Pinar, Puthi, Vijith, Acerini, Carlo, Massoud, Ahmed F., Tümer, Zeynep, Temple, I. Karen
Publicado 2013

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

por Jeffries, Aaron R., Maroofian, Reza, Salter, Claire G., Chioza, Barry A., Cross, Harold E., Patton, Michael A., Dempster, Emma, Temple, I. Karen, Mackay, Deborah J.G., Rezwan, Faisal I., Aksglaede, Lise, Baralle, Diana, Dabir, Tabib, Hunter, Matthew F., Kamath, Arveen, Kumar, Ajith, Newbury-Ecob, Ruth, Selicorni, Angelo, Springer, Amanda, Van Maldergem, Lionel, Varghese, Vinod, Yachelevich, Naomi, Tatton-Brown, Katrina, Mill, Jonathan, Crosby, Andrew H., Baple, Emma L.
Publicado 2019