Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood von 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

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Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure von Mulchandani, Surabhi, Bhoj, Elizabeth J., Luo, Minjie, Powell-Hamilton, Nina, Jenny, Kim, Gripp, Karen W., Elbracht, Miriam, Eggermann, Thomas, Turner, Claire L.S., Temple, I. Karen, Mackay, Deborah J.G., Dubbs, Holly, Stevenson, David A., Slattery, Leah, Zackai, Elaine H., Spinner, Nancy B., Krantz, Ian D., Conlin, Laura K.

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Multilocus methylation defects in imprinting disorders von Mackay, Deborah J.G., Eggermann, Thomas, Buiting, Karin, Garin, Intza, Netchine, Irène, Linglart, Agnès, de Nanclares, Guiomar Perez

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Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders von Poole, Rebecca L., Docherty, Louise E., Al Sayegh, Abeer, Caliebe, Almuth, Turner, Claire, Baple, Emma, Wakeling, Emma, Harrison, Lucy, Lehmann, Anna, Temple, I. Karen, Mackay, Deborah J.G.

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Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57 von Mackay, Deborah J G, Callaway, Jonathan L A, Marks, Sophie M, White, Helen E, Acerini, Carlo L, Boonen, Susanne E, Dayanikli, Pinar, Firth, Helen V, Goodship, Judith A, Haemers, Andreas P, Hahnemann, Johanne M D, Kordonouri, Olga, Masoud, Ahmed F, Oestergaard, Elsebet, Storr, John, Ellard, Sian, Hattersley, Andrew T, Robinson, David O, Temple, I Karen

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Relapsing diabetes can result from moderately activating mutations in KCNJ11 von Gloyn, Anna L., Reimann, Frank, Girard, Christophe, Edghill, Emma L., Proks, Peter, Pearson, Ewan R., Temple, I. Karen, Mackay, Deborah J.G., Shield, Julian P.H., Freedenberg, Debra, Noyes, Kathryn, Ellard, Sian, Ashcroft, Frances M., Gribble, Fiona M., Hattersley, Andrew T.

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Rho- and Rac-Dependent Assembly of Focal Adhesion Complexes and Actin Filaments in Permeabilized Fibroblasts: An Essential Role for Ezrin/Radixin/Moesin Proteins von Deborah J. G. Mackay, Esch, Fred, Furthmayr, Heinz, Hall, Alan

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Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci: A detailed follow-up von BOONEN, Susanne E, MACKAY, Deborah J. G, CHI VU, Dũng, BICH NGOC, C. T, BICH NGUYEN, Phuong, KORDONOURI, Olga, SUNDBERG, Frida, DAYANIKLI, Pinar, PUTHI, Vijith, ACERINI, Carlo, MASSOUD, Ahmed F, TÜMER, Zeynep, HAHNEMANN, Johanne M. D, KAREN TEMPLE, I, DOCHERTY, Louise, GRØNSKOV, Karen, LEHMANN, Anna, LARSEN, Lise G, HAEMERS, Andreas P, KOCKAERTS, Yves, DOOMS, Lutgarde

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Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome von Brightman, Diana S., Lokulo-Sodipe, Oluwakemi, Searle, Beverly A., Mackay, Deborah J.G., Davies, Justin H., Temple, I. Karen, Dauber, Andrew

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Genomic imprinting disorders: lessons on how genome, epigenome and environment interact von Monk, David, Mackay, Deborah J. G., Eggermann, Thomas, Maher, Eamonn R., Riccio, Andrea

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An imprinted locus associated with transient neonatal diabetes mellitus von GARDNER, R. J, MACKAY, D. J. G, MUNGALL, A. J, POLYCHRONAKOS, C, SIEBERT, R, SHIELD, J. P. H, TEMPLES, I. K, ROBINSON, D. O

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Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement von Brioude, Frédéric, Kalish, Jennifer M., Mussa, Alessandro, Foster, Alison C., Bliek, Jet, Ferrero, Giovanni Battista, Boonen, Susanne E., Cole, Trevor, Baker, Robert, Bertoletti, Monica, Cocchi, Guido, Coze, Carole, De Pellegrin, Maurizio, Hussain, Khalid, Ibrahim, Abdulla, Kilby, Mark D., Krajewska-Walasek, Malgorzata, Kratz, Christian P., Ladusans, Edmund J., Lapunzina, Pablo, Le Bouc, Yves, Maas, Saskia M., Macdonald, Fiona, Õunap, Katrin, Peruzzi, Licia, Rossignol, Sylvie, Russo, Silvia, Shipster, Caroleen, Skórka, Agata, Tatton-Brown, Katrina, Tenorio, Jair, Tortora, Chiara, Grønskov, Karen, Netchine, Irène, Hennekam, Raoul C., Prawitt, Dirk, Tümer, Zeynep, Eggermann, Thomas, Mackay, Deborah J. G., Riccio, Andrea, Maher, Eamonn R.

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The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study von De Franco, Elisa, PhD, Flanagan, Sarah E, PhD, Houghton, Jayne AL, PhD, Allen, Hana Lango, PhD, Mackay, Deborah JG, PhD, Temple, I Karen, Prof, Ellard, Sian, Prof, Hattersley, Andrew T, Prof

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

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Uniparental Disomy and Imprinting Disorders von Eggermann, Thomas, J.G. Mackay, Deborah, Tümer, Zeynep

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Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism von Calton, Elizabeth A, Temple, I. Karen, Mackay, Deborah J.G, Lever, Margaret, Ellard, Sian, Flanagan, Sarah E, Davies, Justin H, Hussain, Khalid, Gray, Juliet C

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Characterization of the Methylation-sensitive Promoter of the Imprinted ZAC Gene Supports Its Role in Transient Neonatal Diabetes Mellitus von Varrault, Annie, Bilanges, Benoit, Mackay, Deborah J.G., Basyuk, Eugenia, Ahr, Barbara, Fernandez, Céline, Robinson, David O., Bockaert, Joël, Journot, Laurent

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Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases von Ioannides, Yiannis, Lokulo-Sodipe, Kemi, Mackay, Deborah J G, Davies, Justin H, Temple, I Karen

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The Rho's progress: a potential role during neuritogenesis for the Rho family of GTPases von Mackay, Deborah J.G., Nobes, Catherine D., Hall, Alan

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Zellweger syndrome resulting from maternal isodisomy of chromosome 1 von Turner, Claire L.S., Bunyan, David J., Thomas, N. Simon, Mackay, Deborah J.G., Jones, Huw P., Waterham, Hans R., Wanders, Ronald J.A., Temple, I. Karen

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