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 em 1997

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 em 2013

Concurrent Course of Transient Neonatal Diabetes with Cholestasis and Paucity of Interlobular Bile Ducts: A Case Report

Por Kenny, Alan P., Crimmins, Nancy A., Mackay, Deborah J.G., Hopkin, Robert J., Bove, Kevin E., Leonis, Mike A.
Publicado em 2009

Evidence for anticipation in Beckwith–Wiedemann syndrome

Por Berland, Siren, Appelbäck, Mia, Bruland, Ove, Beygo, Jasmin, Buiting, Karin, Mackay, Deborah J G, Karen Temple, I, Houge, Gunnar
Publicado em 2013

An atypical case of hypomethylation at multiple imprinted loci

Por Baple, Emma L, Poole, Rebecca L, Mansour, Sahar, Willoughby, Catherine, Temple, I Karen, Docherty, Louise E, Taylor, Rohan, Mackay, Deborah J G
Publicado em 2011

Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment

Por Globa, Evgenia, Zelinska, Nataliya, Mackay, Deborah J.G., Temple, Karen I., Houghton, Jayne A.L., Hattersley, Andrew T., Flanagan, Sarah E., Ellard, Sian
Publicado no J Pediatr Endocrinol Metab (2015)

Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1

Por Poole, Rebecca L, Leith, Donald J, Docherty, Louise E, Shmela, Mansur E, Gicquel, Christine, Splitt, Miranda, Temple, I Karen, Mackay, Deborah J G
Publicado em 2012

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Por Eggermann, Thomas, Perez de Nanclares, Guiomar, Maher, Eamonn R., Temple, I. Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah J. G., Grønskov, Karen, Riccio, Andrea, Linglart, Agnès, Netchine, Irène
Publicado no Clin Epigenetics (2015)

Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Por Eggermann, Thomas, de Nanclares, Guiomar Perez, Maher, Eamonn R., Temple, I. Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah J. G., Grønskov, Karen, Riccio, Andrea, Linglart, Agnès, Netchine, Irène
Publicado no Clin Epigenetics (2016)

Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes

Por Docherty, Louise E, Rezwan, Faisal I, Poole, Rebecca L, Jagoe, Hannah, Lake, Hannah, Lockett, Gabrielle A, Arshad, Hasan, Wilson, David I, Holloway, John W, Temple, I Karen, Mackay, Deborah J G
Publicado em 2014

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 em 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 no Diabetes Care (2015)

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 em 2007

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

Por Bliek, Jet, Verde, Gaetano, Callaway, Jonathan, Maas, Saskia M, De Crescenzo, Agostina, Sparago, Angela, Cerrato, Flavia, Russo, Silvia, Ferraiuolo, Serena, Rinaldi, Maria Michela, Fischetto, Rita, Lalatta, Faustina, Giordano, Lucio, Ferrari, Paola, Cubellis, Maria Vittoria, Larizza, Lidia, Temple, I Karen, Mannens, Marcel M A M, Mackay, Deborah J G, Riccio, Andrea
Publicado em 2009

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 em 2013

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

Por Docherty, Louise E., Rezwan, Faisal I., Poole, Rebecca L., Turner, Claire L. S., Kivuva, Emma, Maher, Eamonn R., Smithson, Sarah F., Hamilton-Shield, Julian P., Patalan, Michal, Gizewska, Maria, Peregud-Pogorzelski, Jaroslaw, Beygo, Jasmin, Buiting, Karin, Horsthemke, Bernhard, Soellner, Lukas, Begemann, Matthias, Eggermann, Thomas, Baple, Emma, Mansour, Sahar, Temple, I. Karen, Mackay, Deborah J. G.
Publicado no Nat Commun (2015)