Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related

by Mackay, Deborah, Bens, Susanne, Perez de Nanclares, Guiomar, Siebert, Reiner, Temple, I. Karen
Published 2014

Congenital imprinting disorders: application of multilocus and high throughput methods to decipher new pathomechanisms and improve their management

by Soellner, Lukas, Monk, David, Rezwan, Faisal I., Begemann, Matthias, Mackay, Deborah, Eggermann, Thomas
Published 2015

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

by Priyadarshi, Archana, Verge, Charles F., Vandervliet, Leah, Mackay, Deborah J.G, Bolisetty, Srinivas
Published 2015

Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region

by Briggs, Tracy A., Lokulo-Sodipe, Kemi, Chandler, Kate E., Mackay, Deborah J.G, Temple, I. Karen
Published 2016

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

by Rezwan, Faisal I., Poole, Rebecca L., Prescott, Trine, Walker, Joanna M., Temple, I. Karen, Mackay, Deborah J.G
Published 2015

Evidence for anticipation in Beckwith-Wiedemann syndrome

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

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

by Globa, Evgenia, Zelinska, Nataliya, Mackay, Deborah J.G, Temple, Karen I, Houghton, Jayne A.L, Hattersley, Andrew T., Flanagan, Sarah E., Ellard, Sian
Published 2015

Clinical utility gene card for: Beckwith-Wiedemann syndrome

by Eggermann, Thomas, Algar, Elizabeth, Lapunzina, Pablo, Mackay, Deborah, Maher, Eamonn R., Mannens, Marcel, Netchine, Irène, Prawitt, Dirk, Riccio, Andrea, Temple, I. Karen, Weksberg, Rosanna
Published 2014

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

by De Franco, Elisa, Flanagan, Sarah E., Houghton, Jayne A.L, Allen, Hana Lango, Mackay, Deborah J.G, Temple, I. Karen, Ellard, Sian, Hattersley, Andrew T.
Published 2015

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

by 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
Published 2013

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

by 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
Published 2015

Role of noninsulin therapies alone or in combination in chromosome 6q24-related transient neonatal diabetes: sulfonylurea improves but does not always normalize insulin secretion

by 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.
Published 2015

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

by 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.
Published 2015

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

by 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
Published 2015

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

by Gloyn, Anna L., Pearson, Ewan R., Antcliff, Jennifer F., Proks, Peter, Bruining, Jan, Slingerland, Annabelle S., Howard, Neville, Srinivasan, Shubha, Silva, José M.C.L, Molnes, Janne, Edghill, Emma L., Frayling, Timothy M., Temple, I. Karen, Mackay, Deborah, Shield, Julain P.H, Sumnik, Zdenek, Van Rhijn, Adrian, Wales, J.erry K.H, Clark, Penelope, Gorman, Shaun, Aisenberg, Javier, Ellard, Sian, Njolstad, Pal R., Ashcroft, Frances M., Hattersley, Andrew T.
Published 2004