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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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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Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57 von Bak, Mads, Boonen, Susanne E, Dahl, Christina, Hahnemann, Johanne M D, Mackay, Deborah J D G, Tümer, Zeynep, Grønskov, Karen, Temple, I Karen, Guldberg, Per, Tommerup, Niels

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Transient Neonatal Diabetes, ZFP57 , and Hypomethylation of Multiple Imprinted Loci von 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

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Feasibility study on the use of methylation-specific MLPA for the 11p15 region on prenatal samples von Gede, Lene Bjerring, Hahnemann, Johanne M. D., Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen

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Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver–Russell syndrome and growth retardation von Grønskov, Karen, Poole, Rebecca L, Hahnemann, Johanne M D, Thomson, Jennifer, Tümer, Zeynep, Brøndum-Nielsen, Karen, Murphy, Rinki, Ravn, Kirstine, Melchior, Linea, Dedic, Alma, Dolmer, Birgitte, Temple, I Karen, Boonen, Susanne E, Mackay, Deborah J G

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Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings von BOONEN, Susanne E, PÖRKSEN, Sven, MACKAY, Deborah J. G, OESTERGAARD, Elsebet, OLSEN, Birthe, BRONDUM-NIELSEN, Karen, TEMPLE, I. Karen, HAHNEMANN, Johanne M. D

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Non-disjunction of chromosome 13 von Bugge, Merete, Collins, Andrew, Hertz, Jens Michael, Eiberg, Hans, Lundsteen, Claes, Brandt, Carsten A., Bak, Mads, Hansen, Claus, deLozier, Celia D., Lespinasse, James, Tranebjaerg, Lisbeth, Hahnemann, Johanne M.D., Rasmussen, Kirsten, Bruun-Petersen, Gert, Duprez, Laurence, Tommerup, Niels, Petersen, Michael B.

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No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome von BOONEN, Susanne E, HAHNEMANN, Johanne Md, MACKAY, Deborah, TOMMERUP, Niels, BRØNDUM-NIELSEN, Karen, TÜMER, Zeynep, GRØNSKOV, Karen

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Thiamine‐responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood von Olsen, Birthe S, Hahnemann, Johanne MD, Schwartz, Marianne, Østergaard, Elsebeth

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Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus von Verkerk, Annemieke J.M.H., Schot, Rachel, van Waterschoot, Laura, Douben, Hannie, Poddighe, Pino J., Lequin, Maarten H., de Vries, Linda S., Terhal, Paulien, Hahnemann, Johanne M.D., de Coo, Irenaeus F.M., de Wit, Marie-Claire Y., Wafelman, Leontien S., Garavelli, Livia, Dobyns, William B., Van der Spek, Peter J., de Klein, Annelies, Mancini, Grazia M.S.

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Trisomy 10 mosaicism and maternal uniparental disomy 10 in a liveborn infant with severe congenital malformations von Hahnemann, Johanne M.D., Nir, Marta, Friberg, M., Engel, Ulla, Bugge, Merete

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Trisomy 10 mosaicism and maternal uniparental disomy 10 in a liveborn infant with severe congenital malformations von Hahnemann, Johanne M.D., Nir, Marta, Friberg, M., Engel, Ulla, Bugge, Merete

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