المؤلفون: 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

المصدر: Bak , M , Boonen , S E , Dahl , C , Hahnemann , J M D , Mackay , D J D G , Tümer , Z , Grønskov , K , Temple , I K , Guldberg , P & Tommerup , N 2016 , ' Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57 ' , BMC Medical Genetics , vol. 17 , 29 . https://doi.org/10.1186/s12881-016-0292-4

وصف الملف: application/pdf

الاتاحة: https://researchprofiles.ku.dk/da/publications/genomewide-dna-methylation-analysis-of-transient-neonatal-diabetes-type-1-patients-with-mutations-in-zfp57(b5de3df3-b1f0-4334-8558-331ee39e8e8a).html
https://doi.org/10.1186/s12881-016-0292-4
https://curis.ku.dk/ws/files/166165605/Genome_wide_DNA_methylation_analysis_of.pdf

المؤلفون: 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

مصطلحات موضوعية: Special feature on copy-number variation

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/48/5/308; http://dx.doi.org/10.1136/jmg.2010.086504

الاتاحة: http://jmg.bmj.com/cgi/content/short/48/5/308
https://doi.org/10.1136/jmg.2010.086504

المؤلفون: Boonen, Susanne E, Hahnemann, Johanne M D, Mackay, Deborah, Tommerup, Niels, Brøndum-Nielsen, Karen, Tümer, Zeynep, Grønskov, Karen

المصدر: European Journal of Human Genetics ; volume 20, issue 1, page 119-121 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2011.140
http://www.nature.com/articles/ejhg2011140.pdf
http://www.nature.com/articles/ejhg2011140

المؤلفون: Boonen, Susanne E, Pörksen, Sven, Mackay, Deborah J G, Oestergaard, Elsebet, Olsen, Birthe, Brondum-Nielsen, Karen, Temple, I Karen, Hahnemann, Johanne M D

المصدر: European Journal of Human Genetics ; volume 16, issue 4, page 453-461 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/sj.ejhg.5201993
http://www.nature.com/articles/5201993.pdf
http://www.nature.com/articles/5201993

المؤلفون: Gede, Lene Bjerring, Hahnemann, Johanne M D, Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen

المصدر: Gede , L B , Hahnemann , J M D , Tümer , Z , Brøndum-Nielsen , K & Grønskov , K 2016 , ' Feasibility study on the use of methylation-specific MLPA for the 11p15 region on prenatal samples ' , Prenatal Diagnosis , vol. 36 , no. 1 , pp. 100-3 . https://doi.org/10.1002/pd.4752

مصطلحات موضوعية: Beckwith-Wiedemann Syndrome, Case-Control Studies, Chromosomes, Human, Pair 11, DNA Methylation, Feasibility Studies, Female, Genetic Testing, Humans, Multiplex Polymerase Chain Reaction, Pregnancy, Prenatal Diagnosis, Silver-Russell Syndrome, Journal Article

الاتاحة: https://curis.ku.dk/portal/da/publications/feasibility-study-on-the-use-of-methylationspecific-mlpa-for-the-11p15-region-on-prenatal-samples(9362b5bb-5141-44ab-8bdc-6edc4ed884c1).html
https://doi.org/10.1002/pd.4752

المؤلفون: Boonen, Susanne E., Mackay, Deborah J. G., Hahnemann, Johanne M. D., Docherty, Louise E., 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

Relation: Boonen, Susanne E., Mackay, Deborah J. G., Hahnemann, Johanne M. D., Docherty, Louise E., 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 and Temple, I. Karen (2013) Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci: A detailed follow-up. Diabetes Care, 36 (3), 505-512. (doi:10.2337/dc12-0700 ). (PMID:23150280 )

الاتاحة: https://eprints.soton.ac.uk/345397/

المؤلفون: 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, Vu, Dung 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

المصدر: Boonen , S E , Mackay , D J G , Hahnemann , J M D , Docherty , L , Grønskov , K , Lehmann , A , Larsen , L G , Haemers , A P , Kockaerts , Y , Dooms , L , Vu , D C , Ngoc , C T B , Nguyen , P B , Kordonouri , O , Sundberg , F , Dayanikli , P , Puthi , V , Acerini , C , Massoud , A F , Tümer , Z & Temple , I K 2013 , ' ....

الاتاحة: https://researchprofiles.ku.dk/da/publications/transient-neonatal-diabetes-zfp57-and-hypomethylation-of-multiple-imprinted-loci(3c38fa68-0be8-437c-94e8-ba70f5121896).html
https://doi.org/10.2337/dc12-0700

المؤلفون: 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

المصدر: Nature Genetics ; volume 40, issue 8, page 949-951 ; ISSN 1061-4036 1546-1718

الاتاحة: http://dx.doi.org/10.1038/ng.187
http://www.nature.com/articles/ng.187.pdf
http://www.nature.com/articles/ng.187

المؤلفون: Bugge, Merete, Bak, Mads, Hansen, Claus, Tommerup, Niels, Petersen, Michael Bjorn, Collins, Andrew, Hertz, Jens Michael, Brandt, Carsten Alfred, Eiberg, Hans, Lundsteen, Claes, Bruun-Petersen, Gert, deLozier, Celia Dawn, Lespinasse, James, Tranebjaerg, Lisbeth, Hahnemann, Johanne M D, Rasmussen, Kirsten, Duprez, Laurence

المصدر: Human molecular genetics, 16 (16

مصطلحات موضوعية: Génétique clinique, Biologie moléculaire, Biologie

وصف الملف: No full-text files

Relation: uri/info:doi/10.1093/hmg/ddm148; uri/info:pmid/17584770; uri/info:scp/34548406420; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/182507

الاتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/182507

المؤلفون: Boonen, Susanne E, Hahnemann, Johanne M D, Mackay, Deborah, Tommerup, Niels, Brøndum-Nielsen, Karen, Tümer, Zeynep, Grønskov, Karen

المصدر: Boonen , S E , Hahnemann , J M D , Mackay , D , Tommerup , N , Brøndum-Nielsen , K , Tümer , Z & Grønskov , K 2012 , ' No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome ' , European Journal of Human Genetics , vol. 20 , no. 1 , pp. 119-21 .

مصطلحات الفهرس: Beckwith-Wiedemann Syndrome, Chromosomes, Human, Pair 11, DNA Methylation, DNA Mutational Analysis, DNA-Binding Proteins, Female, Genetic Testing, Humans, Inheritance Patterns, Male, Mutation, Transcription Factors, article

URL: https://curis.ku.dk/portal/da/publications/no-evidence-for-pathogenic-variants-or-maternal-effect-of-zfp57-as-the-cause-of-beckwithwiedemann-syndrome(ea78b6f0-a08d-4526-8e51-1fcc9d1b5839).html
https://doi.org/10.1038/ejhg.2011.140

المؤلفون: 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, Vu, Dung Chí, Ngoc, C T Bich, Nguyen, Phuong Bich, Kordonouri, Olga, Sundberg, Frida, Dayanikli, Pinar, Puthi, Vijith, Acerini, Carlo, Massoud, Ahmed F, Tümer, Zeynep

المصدر: Diabetes Care; Mar2013, Vol. 36 Issue 3, p505-512, 8p