Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
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
Published in Nature genetics (01.08.2008)
Published in Nature genetics (01.08.2008)
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Non-disjunction of chromosome 13
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.
Published in Human molecular genetics (15.08.2007)
Published in Human molecular genetics (15.08.2007)
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Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci: A detailed follow-up
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
Published in Diabetes care (01.03.2013)
Published in Diabetes care (01.03.2013)
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Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57
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
Published in BMC medical genetics (14.04.2016)
Published in BMC medical genetics (14.04.2016)
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Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings
BOONEN, Susanne E, PÖRKSEN, Sven, MACKAY, Deborah J. G, OESTERGAARD, Elsebet, OLSEN, Birthe, BRONDUM-NIELSEN, Karen, TEMPLE, I. Karen, HAHNEMANN, Johanne M. D
Published in European journal of human genetics : EJHG (01.04.2008)
Published in European journal of human genetics : EJHG (01.04.2008)
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Thiamine‐responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood
Olsen, Birthe S, Hahnemann, Johanne MD, Schwartz, Marianne, Østergaard, Elsebeth
Published in Pediatric diabetes (01.08.2007)
Published in Pediatric diabetes (01.08.2007)
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Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus
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.
Published in American journal of medical genetics. Part A (01.06.2010)
Published in American journal of medical genetics. Part A (01.06.2010)
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Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver–Russell syndrome and growth retardation
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
Published in Journal of medical genetics (01.05.2011)
Published in Journal of medical genetics (01.05.2011)
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No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome
BOONEN, Susanne E, HAHNEMANN, Johanne Md, MACKAY, Deborah, TOMMERUP, Niels, BRØNDUM-NIELSEN, Karen, TÜMER, Zeynep, GRØNSKOV, Karen
Published in European journal of human genetics : EJHG (01.01.2012)
Published in European journal of human genetics : EJHG (01.01.2012)
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Journal Article
Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver—Russell syndrome and growth retardation : Copy-number variation
GRØNSKOV, Karen, POOLE, Rebecca L, DOLMER, Birgitte, KAREN TEMPLE, I, BOONEN, Susanne E, MACKAY, Deborah J. G, HAHNEMANN, Johanne M. D, THOMSON, Jennifer, TÜMER, Zeynep, BRØNDUM-NIELSEN, Karen, MURPHY, Rinki, RAVN, Kirstine, MELCHIOR, Linea, DEDIC, Alma
Published in Journal of medical genetics (2011)
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Published in Journal of medical genetics (2011)
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Genetic epidemiology and cancer
Olsen, Jørgen H, Hahnemann, Johanne M D, Brøndum-Nielsen, Karen
Published in Ugeskrift for læger (12.06.2006)
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Published in Ugeskrift for læger (12.06.2006)
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Prenatal diagnosis of chromosome aberrations after implementation of screening for Down's syndrome
Kjaergaard, Susanne, Hahnemann, Johanne M D, Skibsted, Lillian, Jensen, Lisa Neerup, Sperling, Lene, Zingenberg, Helle, Kristiansen, Anette, Brøndum-Nielsen, Karen
Published in Ugeskrift for læger (31.03.2008)
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Published in Ugeskrift for læger (31.03.2008)
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