Network for Imprinting Diseases
The project investigates imprinting defects, which are a rare cause of genetic diseases. Genomic imprints are gamete-of-origin specific chromatin marks (DNA methylation and histone modifications), which make the two parental alleles functionally different. Errors in imprint erasure, establishment and maintenance lead to aberrant gene expression and disease.
Imprinting defects contribute to several recognizable syndromes and probably to other disorders as well. Whereas most imprinting defects occur without any DNA sequence change (primary imprinting defects), some are the result of a mutation in an imprinting control element (secondary imprinting defects).
Using locus-specific and genome wide genetic and epigenetic studies, we will identify patients who have single or multiple imprinting defects and search for genetic variants in cis-regulatory elements and trans-acting factors involved in genomic imprinting. We will also improve diagnostic tests for imprinting diseases, generate iPS cells for functional and preclinical studies and investigate the interaction of the imprinted chromosomal domain in the interphase nucleus. At the phenotypic level, we will define the clinical spectrum of imprinting defects and compare patients with an imprinting defect with those who have a chromosomal aberration or DNA sequence mutation affecting the imprinted domain.
Projects- Koordination und bioinformatorische Analysen (Prof. B. Horsthemke, Essen
- Genetische und epigenetische Analysen von Patienten mit einem Imprintingfehler (K. Buiting, Essen)
- Upd(14)-Syndrome (Prof. G. Gillessen-Kaesbach. Lübeck)
- Genetische und epigenetische Analysen bei Silver-Russell-Syndrom (Prof. T. Eggermann, Aachen)
- Interaktion von geprägten Chromosomendomänen (D. Prawitt, Mainz)
- Multilocus Imprintingfehler, TNDM und iPS Zellen für Imprintingerkrankungen (Prof. R. Siebert, Ulm)
Institut für Humangenetik
Universitätsklinikum Essen
Hufelandstrasse 55
45122 Essen
Tel.: 49 201 723 4556
Fax: 49 201 723 5900
E-mail: bernhard.horsthemke@uni-due.de
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9. November 2018 (Imprinting)
Molecular Processes Connecting DNA Methylation Patterns with DNA Methyltransferases and Histone Modifications in Mammalian GenomesGenes 2018, 9(11), 566; doi:10.3390/genes9110566
Jeltsch A., Broche J., Bashtrykov P.
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12. October 2018 (Imprinting)
Generation of two human isogenic iPSC lines from fetal dermal fibroblastsStem Cell Res. 2018 Oct 12;33:120-124. doi: 10.1016/j.scr.2018.10.004.
Tandon R, Brändl B, Baryshnikova N, Landshammer A, Steenpaß L, Keminer O, Pless O, Müller FJ.
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27. August 2018 (Imprinting)
Allele-Specific Epigenome EditingMethods Mol Biol. 2018;1767:137-146. doi: 10.1007/978-1-4939-7774-1_6.
Bashtrykov P, Jeltsch A
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22. August 2018 (Imprinting)
The origin of imprinting defects in Temple syndrome and comparison with other imprinting disordersEpigenetics 2018, in press
Beygo J, Mertel C, Kaya S, Gillessen-Kaesbach G, Eggermann T, Horsthemke B, Buiting K
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26. July 2018 (Imprinting)
Angelman Syndrome-Affected Individual with a Numerically Normal Karyotype and Isodisomic Paternal Uniparental Disomy of Chromosome 15 due to Maternal Robertsonian Translocation (14;15) by Monosomy Rescue.Cytogenet Genome Res. 2018 Jul 18. doi: 10.1159/000490838.
Bramswig NC, Buiting K, Bechtel N, Horsthemke B, Rostasy K, Wieczorek D.
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26. July 2018 (Imprinting)
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspringJ Med Genet. 2018 Jul;55(7):497-504. doi: 10.1136/jmedgenet-2017-105190.
Begemann M, Rezwan FI, Beygo J, Docherty LE, Kolarova J, Schroeder C, Buiting K, Chokkalingam K, Degenhardt F, Wakeling EL, Kleinle S, Gonzýlez Fassrainer D, Oehl-Jaschkowitz B, Turner CLS, Patalan M, Gizewska M, Binder G, Bich Ngoc CT, Chi Dung V, Mehta SG, Baynam G, Hamilton-Shield JP, Aljareh S, Lokulo-Sodipe O, Horton R, Siebert R,Elbracht M, Temple IK, Eggermann T, Mackay DJG.
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20. July 2018 (Imprinting)
DNA Methylation Analysis by Bisulfite Conversion Coupled to Double Multiplexed Amplicon-Based Next-Generation Sequencing (NGS)Methods Mol Biol. 2018;1767:367-382. doi: 10.1007/978-1-4939-7774-1_20.
Bashtrykov P, Jeltsch A
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27. June 2018 (Imprinting)
Locus-Specific DNA Methylation Analysis by Targeted Deep Bisulfite SequencingMethods Mol Biol. 2018;1767:351-366. doi: 10.1007/978-1-4939-7774-1_19.
Leitao E, Beygo J, Zeschnigk M, Klein-Hitpass L, Bargull M, Rahmann S, Horsthemke B
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26. June 2018 (Imprinting)
Molecular and clinical studies in 8 patients with Temple syndromeClin Genet. 2018 Jun;93(6):1179-1188. doi: 10.1111/cge.13244.
Gillessen-Kaesbach G, Albrecht B, Eggermann T, Elbracht M, Mitter D, Morlot S, van Ravenswaaij-Arts CMA, Schulz S, Strobl-Wildemann G, Buiting K, Beygo J.
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15. May 2018 (Imprinting)
Assessment of established techniques to determine developmental and malignant potential of human pluripotent stem cells.Nat Commun. 2018 May 15;9(1):1925. doi: 10.1038/s41467-018-04011-3
International Stem Cell Initiative (Allison TF, Müller FJ,Yamanaka S,…)
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27. April 2018 (Imprinting)
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statementNat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD,
Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER. -
27. April 2018 (Imprinting)
Beckwith-Wiedemann Syndrome (BWS) Current Status of Diagnosis and Clinical Management: Summary of the First International Consensus Statement.Klin Padiatr. 2018 Apr;230(3):151-159.
Elbracht M, Prawitt D, Nemetschek R, Kratz C, Eggermann T
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20. March 2018 (Imprinting)
Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease databaseHum Mutat. 2018 Mar;39(3):345-364. doi: 10.1002/humu.23382. Epub 2018 Jan 11.
Tümer Z, López-Hernández JA, Netchine I, Elbracht M, Grønskov K, Gede LB, Sachwitz J, den Dunnen JT, Eggermann T
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13. February 2018 (Imprinting)
Recommendations for a nomenclature system for reporting methylation aberrations in imprintedEpigenetics. 2018;13(2):117-121. doi: 10.1080/15592294.2016.1264561.
Monk D, Morales J, den Dunnen JT, Russo S, Court F, Prawitt D, Eggermann T, Beygo J, Buiting K, Tümer Z; Nomenclature group of the European Network for Human Congenital Imprinting Disorders.
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13. October 2017 (Imprinting)
Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challengeClin Epigenetics. 2017 Oct 13;9:111. doi: 10.1186/s13148-017-0410-y. eCollection 2017.
Bens S, Luedeke M, Richter T, Graf M, Kolarova J, Barbi G, Lato K, Barth TF, Siebert R
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22. September 2017 (Imprinting)
The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?Molecular Genetics & Genomic Medicine 2017:22 SEP
Eggermann T, Oehl-Jaschkowitz B, Dicks S, Thomas W, Kanber D, Albrecht B, Begemann M, Kurth I, Beygo J, Buiting K.
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25. August 2017 (Imprinting)
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndromeEur J Hum Genet. 2017 Aug;25(8):935-945. doi: 10.1038/ejhg.2017.91. Epub 2017 Jun 21.
Beygo J, Kuchler A, Gillessen-Kaesbach G, Albrecht B, Eckle J, Eggermann T, Gellhaus A, Kanber D, Kordass U, Ludecke HJ, Purmann S, Rossier E, van de Nes J, van der Werf IM, Wenzel M, Wieczorek D, Horsthemke B, Buiting K.
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25. August 2017 (Imprinting)
Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring.Eur J Hum Genet. 2017 Aug;25(8):924-929. doi: 10.1038/ejhg.2017.94. Epub 2017 May 31.
Soellner L, Begemann M, Degenhardt F, Geipel A, Eggermann T, Mangold E.
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9. August 2017 (Imprinting)
PLAGL1 epimutation and bladder exstrophy: Coincidence or concurrent etiology?Birth Defects Res A Clin Mol Teratol. 2016 Aug;106(8):724-8. doi: 10.1002/bdra.23521. Epub 2016 May 25.
Kolarova J, Bens S, Ammerpohl O, Hilger AC, Zhang R, Reutter H, Siebert R.
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25. July 2017 (Imprinting)
Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction.Mol Cytogenet. 2017 Jul 25;10:28. doi: 10.1186/s13039-017-0329-1. eCollection 2017.
Chantot-Bastaraud S, Stratmann S, Brioude F, Begemann M, Elbracht M, Graul-Neumann L, Harbison M, Netchine I, Eggermann T.
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21. July 2017 (Imprinting)
NLRP genes and their role in preeclampsia and multi-locus imprinting disordersJ Perinat Med. 2017 Jul 28. pii: /j/jpme.ahead-of-print/jpm-2016-0405/jpm-2016-0405.xml. doi: 10.1515/jpm-2016-0405. [Epub ahead of print]
Soellner L, Kopp K, Mütze S, Meyer R, Begemann M, Rudnik S, Rath W, Eggermann T, Zerres K.
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1. July 2017 (Imprinting)
Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itselfClinical Genetics, Volume 92, Number 1, 1 July 2017, pp. 45-51(7)
Scheuvens R, Begemann M, Soellner L, Meschede D, Raabe-Meyer G, Elbracht M, Schubert R, Eggermann T.
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19. May 2017 (Imprinting)
Epigenome Editing in the BrainAdv Exp Med Biol. 2017;978:409-424. doi: 10.1007/978-3-319-53889-1_21.
Bashtrykov P, Jeltsch A.
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19. May 2017 (Imprinting)
Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical ManagementMeyer R, Soellner L, Begemann M, Dicks S, Fekete G, Rahner N, Zerres K, Elbracht M, Eggermann T.
J Pediatr. 2017 May 19. pii: S0022-3476(17)30501-2. doi: 10.1016/j.jpeds.2017.04.018. [Epub ahead of print]
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9. March 2017 (Imprinting)
Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literatureAm J Med Genet A. 2017 Mar;173(3):753-757.
Le Fevre A, Beygo J, Silveira C, Kamien B, Clayton-Smith J, Colley A, Buiting K, Dudding-Byth T
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16. January 2017 (Imprinting)
Recent Advances in Imprinting Disorders.Clin Genet. 2017 Jan;91(1):3-13. doi: 10.1111/cge.12827. Epub 2016 Aug 4.
Soellner L, Begemann M, Mackay DJ, Grønskov K, Tümer Z, Maher ER, Temple IK, Monk D, Riccio A, Linglart A, Netchine I, Eggermann T.
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9. December 2016 (Imprinting)
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndromeEur J Hum Genet. 2016 Dec;24:1724-1729.
Van der Werf, I. M., Buiting, K., Czeschik, C., Reyniers, E., Vandeweyer, G., Vanhaesebrouck, P., Ludecke, H.J., Wieczorek, D., Horsthemke, B., Mortier, G., Leroy, J.G., and Kooy, R.F.
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9. December 2016 (Imprinting)
Angelman syndrome –insights into a rare neurogenetic disorderNature Review Genetics 12, 12:584-93.(2016)
Buiting K, Williams C, Horsthemke B.
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1. December 2016 (Imprinting)
Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domainsEpigenetics. 2016 Dec 2:0. [Epub ahead of print] Monk D, Morales J, den Dunnen JT, Russo S, Court F, Prawitt D, Eggermann T, Beygo J, Buiting K, Tümer Z.
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21. September 2016 (ImprintingMD-Net)
Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesisPediatr Blood Cancer. 2016 Sep 21
Bachmann N, Crazzolara R, Bohne F, Kotzot D, Maurer K, Enklaar T, Prawitt D, Bergmann C -
1. September 2016 (Imprinting)
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human GenomeAm J Hum Genet. 2016 Sep 1;99(3):555-66.
Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, Ho D, Li X, Antonarakis SE, Brunner HG, Buiting K, Cheung SW, Coffee B, Eggermann T, Francis D, Geraedts JP, Gimelli G, Jacobson SG, Le Caignec C, de Leeuw N, Liehr T, Mackay DJ, Montgomery SB, Pagnamenta AT, Papenhausen P, Robinson DO, Ruivenkamp C, Schwartz C, Steiner B, Stevenson DA, Surti U, Wassink T, Sharp AJ -
1. June 2016 (Imprinting)
Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbancesEpigenomics. 2016 Jun;8(6):801-16. doi: 10.2217/epi-2016-0007. Epub 2016 Jun 20
Bens S, Kolarova J, Beygo J, Buiting K, Caliebe A, Eggermann T, Gillessen-Kaesbach G, Prawitt D, Thiele-Schmitz S, Begemann M, Enklaar T, Gutwein J, Haake A, Paul U, Richter J, Soellner L, Vater I, Monk D, Horsthemke B, Ammerpohl O, Siebert R -
11. May 2016 (Imprinting)
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndromeEuropean Journal of Human Genetics advance online publication 11 May 2016; doi: 10.1038/ejhg.2016.45
Katja Eggermann, Jet Bliek, Frédéric Brioude, Elizabeth Algar, Karin Buiting, Silvia Russo, Zeynep Tümer, David Monk, Gudrun Moore, Thalia Antoniadi, Fiona Macdonald, Irène Netchine, Paolo Lombardi, Lukas Soellner, Matthias Begemann, Dirk Prawitt, Eamonn R Maher, Marcel Mannens, Andrea Riccio, Rosanna Weksberg, Pablo Lapunzina, Karen Grønskov, Deborah JG Mackay, and Thomas Eggermann,
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1. May 2016 (ImprintingMD-Net)
Correction of aberrant imprinting by allele-specific epigenome editingClin Pharmacol Ther. 2016 May;99(5):482-4.
Bashtrykov P, Kungulovski G, Jeltsch A -
4. April 2016 (ImprintingMD-Net)
Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulationClin Epigenetics. 2016 May 4;8:47.
Bohne F, Langer D, Martiné U, Eider CS, Cencic R, Begemann M, Elbracht M, Bülow L, Eggermann T, Zechner U, Pelletier J, Zabel BU, Enklaar T, Prawitt D. -
11. March 2016 (ImprintingMD-Net)
Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypesBMC Med Genet. 2016 Mar 11;17:20
Jana Sachwitz, Getrud Strobl-Wildemann, György Fekete, Laima Ambrozaitytė, Vaidutis Kučinskas, Lukas Soellner, Matthias Begemann, and Thomas Eggermann -
3. March 2016 (ImprintingMD-Net)
Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environment.Grothaus K, Kanber D, Gellhaus A, Mikat B, Kolarova J, Siebert R, Wieczorek D, Horsthemke B.
Epigenetics. 2016 Mar 3;11(3):216-26. doi: 10.1080/15592294.2016.1145330. Epub 2016 Feb 18.
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1. March 2016 (Imprinting)
Microdeletions of the 7q32.2 imprinted region are associated with Silver-Russell syndrome featuresAm J Med Genet A. 2016 Mar;170(3):743-9. doi: 10.1002/ajmg.a.37492
Carrera IA, de Zaldívar MS, Martín R, Begemann M, Soellner L, Eggermann T. -
18. February 2016 (Imprinting)
Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environmentEpigenetics. 2016 Feb 18:0. [Epub ahead of print] PMID: 26890210
Grothaus K, Kanber D, Gellhaus A, Mikat B, Kolarova J, Siebert R, Wieczorek D, Horsthemke B.
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9. February 2016 (Imprinting)
Analysen epigenetischer Marker aus Liquid Biopsies: Informationen von jenseits des GenomsSpringer Medizin, Feb. 2016
Ammerpohl O, Scheufele S, Siebert S.
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3. February 2016 (Imprinting)
A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndromeEur J Hum Genet. 2016 Feb 3. doi: 10.1038/ejhg.2016.3. [Epub ahead of print]
Beygo J, Joksic I, Strom TM, Lüdecke HJ, Kolarova J, Siebert R, Mikovic Z, Horsthemke B, Buiting K.
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1. February 2016 (ImprintingMD-Net)
Epigenome Editing: State of the Art, Concepts, and PerspectivesTrends Genet. 2016 Feb;32(2):101-13.
Kungulovski G, Jeltsch A. -
1. January 2016 (Imprinting)
First report on concordant monozygotic twins with Silver-Russell syndrome and ICR1 hypomethylationEur J Med Genet. 2016 Jan;59(1):1-4. doi: 10.1016/j.ejmg.2015.12.003
Riess A, Binder G, Ziegler J, Begemann M, Soellner L, Eggermann T. -
14. November 2015 (Imprinting)
Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted lociClin Epigenetics. 2015 Nov 14;7:123.
Eggermann T, Perez de Nanclares G, Maher ER, Temple IK, Tümer Z, Monk D, Mackay DJ, Grønskov K, Riccio A, Linglart A, Netchine I. (2015)
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6. November 2015 (Imprinting)
The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndromeEpigenomics. 2015 Nov 6. [Epub ahead of print]
Bens S, Kolarova J, Gillessen-Kaesbach G, Buiting K, Beygo J, Caliebe A, Ammerpohl O, Siebert R.
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6. November 2015 (Imprinting)
The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndromeEpigenomics. 2015 Nov 6. [Epub ahead of print]
Bens S, Kolarova J, Gillessen-Kaesbach G, Buiting K, Beygo J, Caliebe A, Ammerpohl O, Siebert R. (2015)
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4. November 2015 (Imprinting)
Correction of aberrant imprinting by allele specific epigenome editingClin Pharmacol Ther. 2015 Nov 4. doi: 10.1002/cpt.295. [Epub ahead of print]
Bashtrykov P, Kungulovski G, Jeltsch A. (2015)
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29. October 2015 (Imprinting)
Congenital imprinting disorders: Application of multilocus and high throughput methods to decipher new pathomechanisms and improve their managementMol Cell Probes. 2015 Oct;29(5):282-90. doi: 10.1016/j.mcp.2015.05.003. Epub 2015 Jun 10
Soellner L, Monk D, Rezwan FI, Begemann M, Mackay D, Eggermann T. (2015)
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28. October 2015 (Imprinting)
Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counselingEur J Hum Genet. 2015 Oct 28. doi: 10.1038/ejhg.2015.224. [Epub ahead of print]
Eggermann T, Brioude F, Russo S, Lombardi MP, Bliek J, Maher ER, Larizza L, Prawitt D, Netchine I, Gonzales M, Grønskov K, Tümer Z, Monk D, Mannens M, Chrzanowska K, Walasek MK, Begemann M, Soellner L, Eggermann K, Tenorio J, Nevado J, Moore GE, Mackay DJ, Temple K, Gillessen-Kaesbach G, Ogata T, Weksberg R, Algar E, Lapunzina P (2015)
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27. October 2015 (Imprinting)
The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann SyndromeBiomarkers. 2015 Oct 27. [Epub ahead of print]
Vals MA, Yakoreva M, Kahre T, Mee P, Muru K, Joost K, Teek R, Soellner L, Eggermann T, Õunap K. Genet Test Mol
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8. October 2015 (Imprinting)
No major contribution of IGF2 variants to the etiology of sporadic 11p15-associated imprinting disordersAm J Med Genet A. 2015 Oct 8. doi: 10.1002 epub
Müller A, Soellner L, Binder G, Begemann M, Eggermann T. (2015)
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1. September 2015 (Imprinting)
Mutations in NLRP5 are associated with reproductive wastage and multi-locus imprinting disorders in humansNat Commun. 2015 Sep 1;6:8086. doi: 10.1038/ncomms9086
Docherty LE, Rezwan FI, Poole RL, Turner CLS, Kivuva E, Maher ER, Smithson SF, Hamilton-Shield JP, Patalan M, Gizewska M, Peregud-Pogorzelski J, Beygo J, Buiting K, Horsthemke B, Soellner L, Begemann M, Eggermann T, Baple E, Mansour S, Temple IK, Mackay DJG (2015).
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6. August 2015 (Imprinting)
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failureGenet Med. 2015 Aug 6. doi: 10.1038/gim.2015.103. [Epub ahead of print]
Mulchandani S, Bhoj EJ, Luo M, Powell-Hamilton N, Jenny K, Gripp KW, Elbracht M, Eggermann T, Turner CL, Temple IK, Mackay DJ, Dubbs H, Stevenson DA, Slattery L, Zackai EH, Spinner NB, Krantz ID, Conlin LK.
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1. August 2015 (Imprinting)
Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotypeEur J Med Genet. 2015 Aug;58(8):419-25. Epub 2015 May 2
Kolarova J, Tangen I, Bens S, Gillessen-Kaesbach G, Gutwein J, Kautza M, Rydzanicz M, Stephani U, Siebert R, Ammerpohl O, Caliebe A. (2015)
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23. July 2015 (Imprinting)
Paternally Inherited IGF2 Mutation and Growth RestrictionN Engl J Med. 2015 Jul 23;373(4):349-56. doi: 10.1056/NEJMoa1415227. Epub 2015 Jul 8.
Begemann M1, Zirn B, Santen G, Wirthgen E, Soellner L, Büttel HM, Schweizer R, van Workum W, Binder G, Eggermann T.
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23. July 2015 (Imprinting)
Paternally Inherited IGF2 Mutation and Growth RestrictionN Engl J Med 2015; 373:349-356 July 23, 2015DOI: 10.1056/NEJMoa1415227
Begemann M, Zirn B, Santen G, Wirthgen E, Soellner L, Büttel HM, Schweizer R, van Workum W, Binder G, Eggermann T.
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17. July 2015 (Imprinting)
Epigenome data release: a participant-centered approach to privacy protectionGenome Biol. 2015 Jul 17;16:142. doi: 10.1186/s13059-015-0723-0.
Dyke SO, Cheung WA, Joly Y, Ammerpohl O, Lutsik P, Rothstein MA, Caron M, Busche S, Bourque G, Rönnblom L, Flicek P, Beck S, Hirst M, Stunnenberg H, Siebert R, Walter J, Pastinen T.
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6. May 2015 (Imprinting)
A novel large deletion of the ICR1 region including H19 and putative enhancer elementsBMC Med Genet. 2015 May 6;16:30. doi: 10.1186/s12881-015-0173-2.
Fryssira H, Amenta S, Kanber D, Sofocleous C, Lykopoulou E, Kanaka-Gantenbein C, Cerrato F, Lüdecke HJ, Bens S, Riccio A, Buiting K.
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21. April 2015 (Imprinting)
Mild clinical effects in a child with Angelman Syndrome due to a mosaic methylation imprinting defectAm J Med Genet A. 2015 Apr 21. doi: 10.1002/ajmg.a.37058. [Epub ahead of print]
Fairbrother LC, Boutis P, Weksberg R, Cytrynbaum C, Buiting K, and Williams C.
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18. March 2015 (Imprinting)
In vivo investigations of the effect of short- and long-term recombinant growth hormone treatment on DNA-methylation in humansPLoS One. 2015; 10(3): e0120463. Published online 2015 Mar 18.
Kolarova J, Ammerpohl O, Gutwein J, Welzel M, Baus I, Riepe FG, Eggermann T, Caliebe A, Holterhus PM, Siebert R, Bens S. (2015)
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1. March 2015 (Imprinting)
Epigenetic germline mosaicism in infertile menHum Mol Genet. 2015 Mar 1;24(5):1295-304.
Laurentino S, Beygo J, Nordhoff V, Kliesch S, Wistuba J, Borgmann J, Buiting K, Horsthemke B, Gromoll J
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1. March 2015 (Imprinting)
Multilocus methylation defects in imprinting disordersBiomol Concepts 2015 Mar;6(1):47-57. doi: 10.1515/bmc-2014-0037.Mackay DJ, Eggermann T, Buiting K, Garin I, Netchine I, Linglart A, de Nanclares GP -
1. March 2015 (Imprinting)
Congenital imprinting disorders: EUCID.net – a network to decipher their aetiology and to improve the diagnostic and clinical careClinical Epigenetics. 2015 Mar;7(1):1-10
Eggermann T, Netchine I, Temple IK, Tümer Z, Monk D, Mackay D, Grønskov K, Riccio A, Linglart A, Maher ER.
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1. February 2015 (Imprinting)
Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32European Journal of Human Genetics. 2015 Feb;23(2):180-8. doi: 10.1038/ejhg.2014.72. Epub 2014 May 7.
Beygo J, Elbracht M, de Groot K, Begemann M, Kanber D, Platzer K, Gillessen-Kaesbach G, Vierzig A, Green A, Heller R, Buiting K, Eggermann T.
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1. January 2015 (Imprinting)
Twenty-one years to the right diagnosis – clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann SyndromeAmerican Journal of Medical Genetics Part A. 2015 Jan;167A(1):151-5. doi: 10.1002/ajmg.a.36825. Epub 2014 Oct 22.
Knopp C, Rudnik-Schöneborn S, Zerres K, Gencik M, Spengler S, Eggermann T.
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1. November 2014 (Imprinting)
Uniparentale Disomien und Mosaike. Bedeutung für die Diagnostikmedizinische genetik. 2014 Nov;26(3):315-23
Eggermann T, Kotzot D.
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1. November 2014 (Imprinting)
CDKN1C mutations: two sides of the same coinTrends in Molecular Medicine. 2014 Nov;20(11):614-22. doi: 10.1016/j.molmed.2014.09.001. Epub 2014 Sep 25.
Eggermann T, Binder G, Brioude F, Maher ER, Lapunzina P, Cubellis MV, Bergadá I, Prawitt D, Begemann M.
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9. October 2014 (Imprinting)
Mosaicism and uniparental disomy: a challenge in pregnancy managementTrends Mol Med 2014, 21:77-87.
Eggermann T, Soellner L, Buiting K, Kotzot D.
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25. September 2014 (Imprinting)
Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysisMol Cytogenet. 2014 Sep;7(1):65. doi: 10.1186/s13039-014-0065-8. eCollection 2014.
Salas-Labadia C, Lieberman E, Cruz-Alcivar R, Navarrete-Meneses P, Gomez S, Cantu-Reyna C, Buiting K, Duran-McKinster C, Perez-Vera P.
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1. September 2014 (Imprinting)
[Genetics and epigenetics. Explanatory approaches for (gender-specific) mechanisms of disease development].Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2014 Sep;57(9):1047-53. doi: 10.1007/s00103-014-2013-5.
Zerres K, Eggermann T.
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1. July 2014 (Imprinting)
Additonal molecular findings in 11p15-associated imprinting disorders: An urgent need for multi-locus testingJournal of Molecular Medicine. 2014 Jul;92(7):769-77
Eggermann T, Heilsberg A-K, Bens S, Siebert R, Beygo J, Begemann M, Soellner L.
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12. June 2014 (Imprinting)
Evolutionary origin and methylation status of human intronic CpG islands that are not present in mouseGenome Biol Evol 2014 Jun;6(7):1579-88. doi: 10.1093/gbe/evu125
Rademacher K, Schroder C, Kanber D, Klein-Hitpass L, Wallner S, Zeschnigk M, Horsthemke B.
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4. June 2014 (Imprinting)
Clinical utility gene card for: Angelman SyndromeEur J Hum Genet. 2015 Feb;23(2). doi: 10.1038/ejhg.2014.93. Epub 2014 Jun 4.
Buiting K, Clayton-Smith J, Driscoll DJ, Gillessen-Kaesbach G, Kanber D, Schwinger E, Williams C, Horsthemke B.
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29. April 2014 (Imprinting)
IGF1R mutation analysis in short children with Silver-Russell syndrome features.J Ped Genet: in press
Soellner L, Spengler S, Begemann M, Wollmann HA, Binder G, Eggermann T (2014)
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16. April 2014 (Imprinting)
Clinical utility card for Prader-Willi syndrome.Eur J Hum genet, 2014 Apr 16. doi: 10.1038/ejhg.2014.66
Buiting K, Cassidy s, Driscoll DJ, Gillessen-Kaesbach G, Kanber D, Tauber M, Schwinger E, Horsthemke B.
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10. April 2014 (Imprinting)
A familial disorder of altered DNA methylation.J Med Genet 2014 Apr 10. doi: 10.1136
Caliebe A, Richter J, Ammerpohl O, Kanber D, Beygo J, Bens S, Haake A, Jüttner E, Korn B, Mackay DJ, Martin-Subero JI, Nagel I, Sebire NJ, Seidmann L, Vater I, von Kaisenberg CS, Temple IK, Horsthemke B, Buiting K, Siebert R.
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10. April 2014 (Imprinting)
A familial disorder of altered DNA-methylationJournal of Medical Genetics. 2014 Jun;51(6):407-12. doi: 10.1136/jmedgenet-2013-102149. Epub 2014 Apr 10.
Caliebe A, Richter J, Ammerpohl O, Kanber D, Beygo J, Bens S, Haake A, Juttner E, Korn B, Mackay DJ, Martin-Subero JI, Nagel I, Sebire NJ, Seidmann L, Vater I, von Kaisenberg CS, Temple IK, Horsthemke B, Buiting K, Siebert R.
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1. April 2014 (Imprinting)
In Brief: Genomic imprinting and imprinting diseases.J Pathol. 2014 Apr;232(5):485-7
Horsthemke B.
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25. March 2014 (Imprinting)
Clinical phenotypes of MAGEL2 mutations and deletions.Orphanet J Rare Dis 2014 Mar 25;9:40
Buiting K, Di Donato N, Beygo J, Bens S, von der Hagen M, Hackmann K and Horsthemke B.
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23. March 2014 (Imprinting)
Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.A J Mol Med (Berl). 2014 Mar 23. [Epub ahead of print].
Eggermann T, Heilsberg A-K, Bens S, Siebert R, Beygo J, Buiting K, Begemann M, Soellner L
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1. March 2014 (Imprinting)
Clinical utility gene card for: Beckwith-Wiedemann Syndrome.Eur J Hum Genet. 2014 Mar;22(3).
Eggermann T, Algar E, Lapunzina P, Mackay D, Maher ER, Mannens M, Netchine I, Prawitt D, Riccio A, Temple IK, Weksberg R (2014)
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26. February 2014 (Imprinting)
Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related.Eur J Hum Genet. 2014 Feb 26.
Mackay D, Bens S, Perez de Nanclares G, Siebert R, Temple IK.
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9. October 2013 (Imprinting)
Deep bisulfite sequencing of aberrantly methylated Loci in a patient with multiple methylation defects.PLoS One. 2013 Oct 9;8(10):e76953.
Beygo J, Ammerpohl O, Gritzan D, Heitmann M, Rademacher K, Richter J, Caliebe A, Siebert R, Horsthemke B, Buiting K.
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1. October 2013 (Imprinting)
Congenital Imprinting Disorders: A Novel Mechanism Linking Seemingly Unrelated Disorders.J Pediatr. 2013 Oct;163(4):1202-7.
Eggermann T, Elbracht M, Schröder C, Reutter H, Soellner L, Spengler S, Begemann M.
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9. September 2013 (Imprinting)
DNA Methylation Analysis Using Deep Bisulfite Amplicon Sequencing on the GS Junior SystemApplication Note, Roche 2013.Buiting,K. Prader-Willi syndrome and Angelman syndrome. Am J Med Genet Part C 2010,, 154C:365–376.
Horsthemke B, Kanber D, Beygo J, Wagner N, Rahmann S, Buiting K.
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1. August 2013 (Imprinting)
Frequency and characterization of DNA methylation defects in children born SGA.Eur J Hum Genet. 2013 Aug;21(8):838-43
Bens S, Haake A, Richter J, Leohold J, Kolarova J, Vater I, Riepe FG, Buiting K, Eggermann T, Gillessen-Kaesbach G, Platzer K, Prawitt D, Caliebe A, Siebert R.
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1. July 2013 (Imprinting)
Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour.Eur J Hum Genet. 2013 Jul;21(7):788-91.
Gogiel M, Begemann M, Spengler S, Soellner L, Göretzlehner U, Eggermann T, Strobl-Wildemann G.
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10. June 2013 (Imprinting)
Isolated hypermethylation of GRB10 (7p12.2) in a Silver-Russell syndrome patient carrying a 20p13 microdeletion.Clin Genet. 2013 Jun 10
Eggermann T, Schneider-Rätzke B, Begemann M, Spengler S (2013)
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14. April 2013 (Imprinting)
UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarraysBioinformatics. 2013 Jun 15;29(12):1562-4. doi: 10.1093/bioinformatics/btt174. Epub 2013 Apr 14.
PMID: 23589652Schroeder C, Sturm M, Dufke A, Mau-Holzmann U, Eggermann T, Poths S, Riess O, Bonin M.
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10. April 2013 (Imprinting)
Evidence for anticipation in Beckwith-Wiedemann syndrome.Eur J Hum Genet. 2013 Apr 10. doi: 10.1038/ejhg.2013.71. [Epub ahead of print] PMID: 23572028
Berland S, Appelbäck M, Bruland O, Beygo J, Buiting K, Mackay DJ, Karen Temple I, Houge G.
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1. February 2013 (Imprinting)
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.Hum Mol Genet. 2013 Feb 1;22(3):544-57.
Beygo J, Citro V, Sparago A, De Crescenzo A, Cerrato F, Heitmann M, Rademacher K, Guala A, Enklaar T, Anichini C, Cirillo Silengo M, Graf N, Prawitt D, Cubellis MV, Horsthemke B, Buiting K, Riccio A.
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1. January 2013 (Imprinting)
Amplikyzer: Automated Methylation Analysis of Amplicons from Bisulfite Flowgram Sequencing.PeerJ PrePrints 1:e122v1
Rahmann S, Beygo J, Kanber D, Martin M, Horsthemke B, Buiting K (2013)
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1. January 2013 (Imprinting)
Molekulargenetische Diagnostik von Imprinting-Erkrankungen.BIOspektrum 19(7):753-758.
Eggermann T, Soellner L, Bens S, Spengler S, Siebert R, Buiting K, Horsthemke B, Begemann M.
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1. January 2013 (Imprinting)
Diabetes mellitus: KCNJ11 (OMIM 600937)In: Riepe FG, Richter-Unruh A et al. (Hrsg.). Molekulare Diagnostik in der Endokrinologie. Schmidt & Klaunig Verlag, Kiel. 1:208-209.
Bens S, Siebert R (2013).
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1. January 2013 (Imprinting)
Diabetes mellitus: ABCC8 (OMIM 600509).In: Riepe FG, Richter-Unruh A et al. (Hrsg.). Molekulare Diagnostik in der Endokrinologie. Schmidt & Klaunig Verlag, Kiel. 1:206-207.
Bens S, Siebert R (2013).
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1. January 2013 (Imprinting)
Diabetes mellitus: PLAGL1 – Pleomorphic Adenoma Gene-like 1 (OMIM 603044)In: Riepe FG, Richter-Unruh A et al. (Hrsg.). Molekulare Diagnostik in der Endokrinologie. Schmidt & Klaunig Verlag, 1:204-205.
Bens S, Siebert R (2013)
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1. January 2013 (Imprinting)
Epigenetik: Die Brücke zwischen Umwelt und Genom.umwelt-medizin-gesellschaft 26(4):263-269 (2013)
Ammerpohl O, Gutwein J, Siebert R
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1. January 2013 (Imprinting)
Der Über-Code der DNA: Epigenetische Mechanismen und deren Bedeutung für die Entstehung von Krankheiten.Journal of Laboratory Medicine 37(6): 289-363 (2013).
Ammerpohl A, Bens S, Siebert R:
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17. September 2012 (Imprinting)
Heterogeneous growth patterns in carriersof chromosome 7p12.2 imbalances affecting GRB10Eggermann T, Begemann M, Gogiel M, Palomares M, Vallespín E, Fernández L,
Cazorla R, Spengler S, García-Miñaúr S. Am J Med Genet A. 2012
Nov;158A(11):2815-9. doi: 10.1002/ajmg.a.35612. Epub 2012 Sep 17. PubMed PMID:
22987336. -
26. July 2012 (Imprinting)
Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literatureBegemann M, Spengler S, Gogiel M, Grasshoff U, Bonin M, Betz RC, Dufke A,
Spier I, Eggermann T. J Med Genet. 2012 Sep;49(9):547-53. doi: 10.1136/jmedgenet-2012-100967. Epub 2012 Jul 26. PubMed PMID: 22844132; PubMed Central PMCID: PMC3439641. -
17. July 2012 (Imprinting)
2p21 Deletions in hypotonia-cystinuria syndrome. Eur J Med GenetEggermann T, Spengler S, Venghaus A, Denecke B, Zerres K, Baudis M, Ensenauer
R. 2012 Oct;55(10):561-3. doi: 10.1016/j.ejmg.2012.06.008. Epub 2012 Jul 17. PubMed PMID:
22766003. -
19. June 2012 (Imprinting)
DNA-methylation profiling of fetal tissues reveals marked epigenetic differences between chorionic and amniotic samplesEckmann-Scholz C, Bens S, Kolarova J, Schneppenheim S, Caliebe A, Heidemann
S, von Kaisenberg C, Kautza M, Jonat W, Siebert R, Ammerpohl O
PLoS One. 2012;7(6):e39014. Epub 2012 Jun 19. PubMed PMID: 22723920; PubMed Central PMCID: PMC3378600. -
8. June 2012 (Imprinting)
Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with silver-russell features.Spengler S, Begemann M, Ortiz Brüchle N, Baudis M, Denecke B, Kroisel PM,
Oehl-Jaschkowitz B, Schulze B, Raabe-Meyer G, Spaich C, Blümel P, Jauch A, Moog
U, Zerres K, Eggermann T. J Pediatr. 2012 Nov;161(5):933-942.e1. doi: 10.1016/j.jpeds.2012.04.045. Epub 2012 Jun 8. PubMed PMID: 22683032. -
8. June 2012 (Imprinting)
Clinical utility gene card for: Silver-Russell syndromeEggermann T, Buiting K, Temple IK. Eur J Hum Genet. 2011 Mar;19(3). doi:
10.1038/ejhg.2010.202. Epub 2010 Dec 8. PubMed PMID: 21150879; PubMed Central PMCID: PMC3061987. -
1. June 2012 (Imprinting)
Epigenetic and genetic diagnosis of Silver-Russell syndromeEggermann T, Spengler S, Gogiel M, Begemann M, Elbracht M. Expert Rev Mol Diagn. 2012
Jun;12(5):459-71. PubMed PMID: 22702363. -
1. May 2012 (Imprinting)
Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci.Begemann M, Leisten I, Soellner L, Zerres K, Eggermann T, Spengler S.
Epigenetics. 2012 May;7(5):473-81. doi: 10.4161/epi.19719. Epub 2012 May 1. PubMed PMID: 22419125. -
13. January 2012 (Imprinting)
Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation.Begemann M, Spengler S, Kordass U, Schröder C, Eggermann T.
Am J Med Genet A. 2012 Feb;158A(2):423-8. doi: 10.1002/ajmg.a.34412. Epub 2012
Jan 13. PubMed PMID: 22246686. -
28. December 2011 (Imprinting)
Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome featuresEggermann T, Spengler S, Begemann M, Binder G, Buiting K, Albrecht B, Spranger
S. Clin Genet. 2012 Mar;81(3):298-300. doi: 10.1111/j.1399-0004.2011.01719.x. Epub 2011 Dec 28. PubMed PMID: 22211632. -
1. October 2011 (Imprinting)
Disturbed methylation at multiple imprinted loci: an increasing observation in imprinting disorders.Eggermann T, Leisten I, Binder G, Begemann M, Spengler S Epigenomics. 2011 Oct;3(5):625-37. Review. PubMed PMID: 22126250.
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1. September 2011 (Imprinting)
How to analyse epigenetic marks?Ammerpohl O, Siebert R.
Pediatr Endocrinol Rev. 2011 Sep;9 Suppl 1:511-4. Review. PubMed PMID: 22423507. -
28. July 2011 (Imprinting)
Molecular and Clinical Aspects of Angelman Syndrome.Dagli A, Buiting K, Williams CA. Mol Syndromol. 2012 Apr;2(3-5):100-112. Epub 2011 Jul 28. PubMed PMID: 22670133; PubMed Central PMCID: PMC3366701.
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25. May 2011 (Imprinting)
Testing of buccal swab DNA does not increase the detection rate for imprinting control region 1hypomethylation in Silver-Russell syndromeSpengler S, Begemann M, Binder G, Eggermann T. Genet Test Mol Biomarkers. 2011 Oct;15(10):725-6. Epub 2011 May 25. PubMed PMID: 21612428.
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1. February 2011 (Imprinting)
Silver-Russell syndromeBinder G, Begemann M, Eggermann T, Kannenberg K. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):153-60. doi:10.1016/j.beem.2010.06.005. PubMed PMID: 21396582.
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9. October 2010 (Imprinting)
Prader-Willi- und Angelman-SyndromMedizinische Genetik 2010, Band 22, Heft 4, 392-398.
Albrecht, B., Buiting, K.
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22. July 2010 (Imprinting)
Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissuesBegemann M, Spengler S, Kanber D, Haake A, Baudis M, Leisten I, Binder G,
Markus S, Rupprecht T, Segerer H, Fricke-Otto S, Mühlenberg R, Siebert R, Buiting
K, Eggermann T. Clin Genet. 2011 Jul;80(1):83-8. doi:
10.1111/j.1399-0004.2010.01514.x. Epub 2010 Jul 22. PubMed PMID: 20738330.