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

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

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 no Clin Epigenetics (2015)

Identification of Tribbles-1 as a Novel Binding Partner of Foxp3 in Regulatory T Cells

Por Dugast, Emilie, Kiss-Toth, Endre, Docherty, Louise, Danger, Richard, Chesneau, Mélanie, Pichard, Virginie, Judor, Jean-Paul, Pettré, Ségolène, Conchon, Sophie, Soulillou, Jean-Paul, Brouard, Sophie, Ashton-Chess, Joanna
Publicado em 2013

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

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

Por Turner, Claire Louise Susan, Mackay, Deborah M, Callaway, Jonathan L A, Docherty, Louise E, Poole, Rebecca L, Bullman, Hilary, Lever, Margaret, Castle, Bruce M, Kivuva, Emma C, Turnpenny, Peter D, Mehta, Sarju G, Mansour, Sahar, Wakeling, Emma L, Mathew, Verghese, Madden, Jackie, Davies, Justin H, Temple, I Karen
Publicado em 2010

A Mutation in the Mitochondrial Fission Gene Dnm1l Leads to Cardiomyopathy

Por Ashrafian, Houman, Docherty, Louise, Leo, Vincenzo, Towlson, Christopher, Neilan, Monica, Steeples, Violetta, Lygate, Craig A., Hough, Tertius, Townsend, Stuart, Williams, Debbie, Wells, Sara, Norris, Dominic, Glyn-Jones, Sarah, Land, John, Barbaric, Ivana, Lalanne, Zuzanne, Denny, Paul, Szumska, Dorota, Bhattacharya, Shoumo, Griffin, Julian L., Hargreaves, Iain, Fernandez-Fuentes, Narcis, Cheeseman, Michael, Watkins, Hugh, Dear, T. Neil
Publicado em 2010

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)