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

di Mackay, Deborah J.G., Esch, Fred, Furthmayr, Heinz, Hall, Alan
Pubblicazione 1997

Genetic diagnosis of subfertility: the impact of meiosis and maternal effects

di Gheldof, Alexander, Mackay, Deborah J G, Cheong, Ying, Verpoest, Willem
Pubblicato in J Med Genet (2019)

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

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

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

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

Evidence for anticipation in Beckwith–Wiedemann syndrome

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

An atypical case of hypomethylation at multiple imprinted loci

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

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

di Globa, Evgenia, Zelinska, Nataliya, Mackay, Deborah J.G., Temple, Karen I., Houghton, Jayne A.L., Hattersley, Andrew T., Flanagan, Sarah E., Ellard, Sian
Pubblicato in 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

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

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

di 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
Pubblicato in Clin Epigenetics (2015)

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

di 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
Pubblicato in Clin Epigenetics (2016)

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

di 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.
Pubblicato in Diabetes (2007)

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

di 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
Pubblicazione 2014

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

di 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
Pubblicato in Genet Res (Camb) (2019)

Revisiting Wilms tumour surveillance in Beckwith–Wiedemann syndrome with IC2 methylation loss, reply

di Brioude, Frédéric, Hennekam, Raoul, Bliek, Jet, Coze, Carole, Eggermann, Thomas, Ferrero, Giovanni B., Kratz, Christian, Bouc, Yves Le, Maas, Saskia M., Mackay, Deborah J. G., Maher, Eamonn R., Mussa, Alessandro, Netchine, Irene
Pubblicato in Eur J Hum Genet (2018)

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

di 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.
Pubblicazione 2013

Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood

di Lokulo-Sodipe, Oluwakemi, Ballard, Lisa, Child, Jenny, Inskip, Hazel M, Byrne, Christopher D, Ishida, Miho, Moore, Gudrun E, Wakeling, Emma L, Fenwick, Angela, Mackay, Deborah J G, Davies, Justin Huw, Temple, I Karen
Pubblicato in J Med Genet (2020)

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

di 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.
Pubblicato in Diabetes Care (2015)

The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenot...

di Sparago, Angela, Verma, Ankit, Patricelli, Maria Grazia, Pignata, Laura, Russo, Silvia, Calzari, Luciano, De Francesco, Naomi, Del Prete, Rosita, Palumbo, Orazio, Carella, Massimo, Mackay, Deborah J. G., Rezwan, Faisal I., Angelini, Claudia, Cerrato, Flavia, Cubellis, Maria Vittoria, Riccio, Andrea
Pubblicato in Clin Epigenetics (2019)

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

di 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. 
Pubblicazione 2007

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

di 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
Pubblicazione 2009