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Institut für Humangenetik am Universitätsklinikum Essen
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45122 Essen
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Direktor, Institut für Humangenetik
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2023 SS
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2022 WS
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2022 SS
Die folgenden Publikationen sind in der Online-Universitätsbibliographie der Universität Duisburg-Essen verzeichnet. Weitere Informationen finden Sie gegebenenfalls auch auf den persönlichen Webseiten der Person.
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Loss of CpG island immunity to DNA methylation induced by mutationIn: Epigenetics and Chromatin Jg. 16 (2023) Nr. 1,ISSN: 1756-8935Online Volltext: dx.doi.org/ (Open Access)
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A critical appraisal of clinical epigeneticsIn: Clinical Epigenetics Jg. 14 (2022) Nr. 1,ISSN: 1868-7083; 1868-7075Online Volltext: dx.doi.org/ (Open Access)
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Evidence for correlations between BMI-associated SNPs and circRNAsIn: Scientific Reports Jg. 12 (2022) Nr. 1,ISSN: 2045-2322Online Volltext: dx.doi.org/ (Open Access)
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GC-rich repeat expansions : Associated disorders and mechanismsIn: Medizinische Genetik Jg. 33 (2022) Nr. 4, S. 325 - 335ISSN: 0936-5931; 1863-5490Online Volltext: dx.doi.org/ (Open Access)
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No evidence for intervention-associated DNA methylation changes in monocytes of patients with posttraumatic stress disorderIn: Scientific Reports Jg. 12 (2022) Nr. 1,ISSN: 2045-2322Online Volltext: dx.doi.org/ (Open Access)
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Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome XIn: Nature Communications Jg. 13 (2022) Nr. 1,ISSN: 2041-1723Online Volltext: dx.doi.org/ (Open Access)
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Lasp1 regulates adherens junction dynamics and fibroblast transformation in destructive arthritisIn: Nature Communications Jg. 12 (2021) Nr. 1,ISSN: 2041-1723Online Volltext: dx.doi.org/ (Open Access)
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The diagnostic journey of a patient with prader–willi-like syndrome and a unique homozygous snurf-snrpn variant; bio-molecular analysis and review of the literatureIn: Genes Jg. 12 (2021) Nr. 6,ISSN: 2073-4425Online Volltext: dx.doi.org/ (Open Access)
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Whole-genome methylation analysis of testicular germ cells from cryptozoospermic men points to recurrent and functionally relevant DNA methylation changesIn: Clinical Epigenetics Jg. 13 (2021) Nr. 1,ISSN: 1868-7083; 1868-7075Online Volltext: dx.doi.org/ (Open Access)
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A germ cell-specific ageing pattern in otherwise healthy menIn: Aging Cell Jg. 19 (2020) Nr. 10, S. e13242ISSN: 1474-9726; 1474-9718Online Volltext: dx.doi.org/ (Open Access)
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A human somatic cell culture system for modelling gene silencing by transcriptional interferenceIn: Heliyon Jg. 6 (2020) Nr. 1, S. e03261ISSN: 2405-8440Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15In: European Journal of Human Genetics Jg. 28 (2020) Nr. 6, S. 835 - 839ISSN: 1476-5438; 1018-4813Online Volltext: dx.doi.org/ (Open Access)
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In vitro postovulatory oocyte aging affects H3K9 trimethylation in two-cell embryos after IVFIn: Annals of Anatomy Jg. 227 (2020) S. 151424ISSN: 1618-0402; 0940-9602Online Volltext: dx.doi.org/
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Novel strategies to cure imprinting disordersIn: Medizinische Genetik Jg. 32 (2020) Nr. 4, S. 335 - 340ISSN: 1863-5490; 0936-5931Online Volltext: dx.doi.org/ (Open Access)
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The adult phenotype of Schaaf-Yang syndromeIn: Orphanet Journal of Rare Diseases Jg. 15 (2020) Nr. 1, S. 294ISSN: 1750-1172Online Volltext: dx.doi.org/ (Open Access)
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The sperm epigenome does not display recurrent epimutations in patients with severely impaired spermatogenesisIn: Clinical Epigenetics Jg. 12 (2020) Nr. 1, S. 61ISSN: 1868-7083; 1868-7075Online Volltext: dx.doi.org/ (Open Access)
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Wg-blimp: An end-to-end analysis pipeline for whole genome bisulfite sequencing dataIn: BMC Bioinformatics Jg. 21 (2020) Nr. 1, S. 169ISSN: 1471-2105Online Volltext: dx.doi.org/ (Open Access)
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Genome-wide analysis of the nucleosome landscape in individuals with coffin-siris syndromeIn: Cytogenetic and Genome Research Jg. 159 (2019) S. 1 - 11ISSN: 1424-859X; 1424-8581Online Volltext: dx.doi.org/ (Open Access)
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Next-Generation-Sequencing in der EpigenetikIn: Medizinische Genetik Jg. 31 (2019) Nr. 2, S. 205 - 211ISSN: 1863-5490; 0936-5931Online Volltext: dx.doi.org/ (Open Access)
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Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3In: Nature Communications Jg. 10 (2019) Nr. 1, S. 4919ISSN: 2041-1723Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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A critical view on transgenerational epigenetic inheritance in humansIn: Nature Communications Jg. 9 (2018) Nr. 1, S. 2973ISSN: 2041-1723Online Volltext: dx.doi.org/ (Open Access)
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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 RescueIn: Cytogenetic and Genome Research Jg. 156 (2018) Nr. 1, S. 9 - 13ISSN: 1424-859X; 1424-8581; 0301-0171; 1421-9816Online Volltext: dx.doi.org/
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Rapid first-tier genetic diagnosis in patients with Prader-Willi syndromeIn: Orvosi Hetilap Jg. 159 (2018) Nr. 2, S. 64 - 69ISSN: 1788-6120; 0030-6002Online Volltext: dx.doi.org/ (Open Access)
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The ageing male germ cellIn: Human Reproduction Jg. 33 (2018) Nr. Suppl_1, S. i45ISSN: 0268-1161; 1460-2350Online Volltext: dx.doi.org/ (Open Access)
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The origin of imprinting defects in Temple syndrome and comparison with other imprinting disordersIn: Epigenetics Jg. 13 (2018) Nr. 8, S. 822 - 828ISSN: 1559-2308; 1559-2294Online Volltext: dx.doi.org/ (Open Access)
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New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndromeIn: European Journal of Human Genetics Jg. 25 (2017) Nr. 8, S. 935 - 945ISSN: 1476-5438; 1018-4813Online Volltext: dx.doi.org/
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Regions of common inter-individual DNA methylation differences in human monocytes: Genetic basis and potential functionIn: Epigenetics and Chromatin Jg. 10 (2017) Nr. 1, S. 37ISSN: 1756-8935Online Volltext: dx.doi.org/ (Open Access)
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The inheritance of epigenetic defects : ein persönlicher BerichtIn: Medizinische Genetik Jg. 29 (2017) Nr. 1, S. 1 - 7ISSN: 1863-5490; 0936-5931Online Volltext: dx.doi.org/ (Open Access)
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A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndromIn: European Journal of Human Genetics Jg. 24 (2016) S. 1280 - 1286ISSN: 1476-5438; 1018-4813Online Volltext: dx.doi.org/ (Open Access)
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Angelman syndrome-insights into a rare neurogenetic disorderIn: Nature Reviews Neurology Jg. 12 (2016) Nr. 10, S. 584 - 593ISSN: 1759-4766; 1759-4758Online Volltext: dx.doi.org/
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Epigenetic dynamics of monocyte-to-macrophage differentiationIn: Epigenetics and Chromatin Jg. 9 (2016) S. 33ISSN: 1756-8935Online Volltext: dx.doi.org/ (Open Access)
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Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environmentIn: Epigenetics Jg. 11 (2016) Nr. 3, S. 216 - 226ISSN: 1559-2308; 1559-2294Online Volltext: dx.doi.org/ (Open Access)
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Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndromeIn: European Journal of Human Genetics Jg. 24 (2016) Nr. 12, S. 1724 - 1729ISSN: 1018-4813Online Volltext: dx.doi.org/
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Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbancesIn: Epigenomics Jg. 8 (2016) Nr. 6, S. 801 - 816ISSN: 1750-1911
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Postovulatory aging affects dynamics of mRNA, expression and localization of maternal effect proteins, spindle integrity and pericentromeric proteins in mouse oocytesIn: Human Reproduction Jg. 31 (2016) Nr. 1, S. 133 - 149ISSN: 1460-2350; 0268-1161Online Volltext: dx.doi.org/ (Open Access)
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Preovulatory Aging In Vivo and In Vitro Affects Maturation Rates, Abundance of Selected Proteins, Histone Methylation Pattern and Spindle Integrity in Murine OocytesIn: PLoS ONE Jg. 11 (2016) Nr. 9, S. e0162722ISSN: 1932-6203Online Volltext: dx.doi.org/ (Open Access)
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The International Human Epigenome Consortium : A Blueprint for Scientific Collaboration and DiscoveryIn: Cell Jg. 167 (2016) Nr. 5, S. 1145 - 1149ISSN: 0092-8674Online Volltext: dx.doi.org/ (Open Access)
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Altering TET dioxygenase levels within physiological range affects DNA methylation dynamics of HEK293 cellsIn: Epigenetics Jg. 10 (2015) Nr. 9, S. 819 - 833ISSN: 1559-2308; 1559-2294Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Chromosom 14-assoziierte Imprintingsyndrome – Temple- und Kagami-Ogata-Syndrome : ein klinisches und molekulares UpdateIn: Medizinische Genetik Jg. 27 (2015) Nr. 2, S. 247 - 253ISSN: 1863-5490; 0936-5931Online Volltext: dx.doi.org/
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Clinical utility gene card for : Angelman syndromeIn: European Journal of Human Genetics Jg. 23 (2015) Nr. 2, S. e1 - e3ISSN: 1018-4813Online Volltext: dx.doi.org/
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Epigenetic germline mosaicism in infertile menIn: Human Molecular Genetics Jg. 24 (2015) Nr. 5, S. 1295 - 1304ISSN: 0964-6906; 1460-2083Online Volltext: dx.doi.org/ (Open Access)
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Epigenetic heterogeneity in sperm of infertile menIn: Human Reproduction Jg. 30 1 (2015) S. 104 - 104ISSN: 0268-1161; 1460-2350
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Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humansIn: Nature Communications Jg. 6 (2015) S. 8086ISSN: 2041-1723Online Volltext: dx.doi.org/ (Open Access)
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N6-Adenosine Methylation in MiRNAsIn: PLoS ONE Jg. 10 (2015) Nr. 2, S. e0118438ISSN: 1932-6203Online Volltext: dx.doi.org/ (Open Access)
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A familial disorder of altered DNA-methylationIn: Journal of Medical Genetics (eJMG) Jg. 51 (2014) Nr. 6, S. 407 - 412ISSN: 1468-6244; 0022-2593Online Volltext: dx.doi.org/
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Classification and visualization based on derived image features : application to genetic syndromesIn: PLoS ONE Jg. 9 (2014) Nr. 11, S. e109033ISSN: 1932-6203Online Volltext: dx.doi.org/ (Open Access)
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Clinical phenotypes of MAGEL2 mutations and deletionsIn: Orphanet Journal of Rare Diseases Jg. 9 (2014) Nr. 1, S. 40ISSN: 1750-1172Online Volltext: dx.doi.org/ (Open Access)
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Clinical utility gene card for : Prader-Willi SyndromeIn: European Journal of Human Genetics Jg. 22 (2014) Nr. 9, S. 1153ISSN: 1018-4813; 1476-5438Online Volltext: dx.doi.org/
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Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown SyndromeIn: The American Journal of Human Genetics Jg. 95 (2014) Nr. 6, S. 698 - 707ISSN: 1537-6605; 0002-9297Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Evolutionary origin and methylation status of human intronic CpG islands that are not present in mouseIn: Genome Biology and Evolution Jg. 6 (2014) Nr. 7, S. 1579 - 1588ISSN: 1759-6653Online Volltext: dx.doi.org/ (Open Access)
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Grußwort des TagungspräsidentenIn: Medizinische Genetik Jg. 26 (2014) Nr. 1, S. 53 - 54ISSN: 1863-5490; 0936-5931Online Volltext: dx.doi.org/
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In brief : genomic imprinting and imprinting diseasesIn: The Journal of Pathology Jg. 232 (2014) Nr. 5, S. 485 - 487ISSN: 1096-9896; 0022-3417; 0368-3494Online Volltext: dx.doi.org/
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Leveraging Cross-Species Transcription Factor Binding Site Patterns : From Diabetes Risk Loci to Disease MechanismsIn: Cell Jg. 156 (2014) Nr. 1-2, S. 343 - 358ISSN: 0092-8674Online Volltext: dx.doi.org/ (Open Access)
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Methylation analysis of SST and SSTR4 promoters in the neocortex of Alzheimer's disease patientsIn: Neuroscience Letters Jg. 566 (2014) S. 241 - 246ISSN: 0304-3940; 1872-7972Online Volltext: dx.doi.org/
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Pre- and Postovulatory Aging of Murine Oocytes Affect the Transcript Level and Poly(A) Tail Length of Maternal Effect GenesIn: PLoS ONE Jg. 9 (2014) Nr. 10, S. e108907ISSN: 1932-6203Online Volltext: dx.doi.org/ (Open Access)
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The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenesIn: Genome Biology and Evolution Jg. 6 (2014) Nr. 2, S. 344 - 351ISSN: 1759-6653Online Volltext: dx.doi.org/ (Open Access)
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Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation DefectsIn: PLoS ONE Jg. 8 (2013) Nr. 10, S. e76953ISSN: 1932-6203Online Volltext: dx.doi.org/ (Open Access)
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Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3In: Nature Genetics Jg. 45 (2013) Nr. 8, S. 933 - 936ISSN: 1061-4036; 1546-1718Online Volltext: dx.doi.org/
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FTO levels affect RNA modification and the transcriptomeIn: European Journal of Human Genetics Jg. 21 (2013) Nr. 3, S. 317 - 323ISSN: 1018-4813; 1476-5438Online Volltext: dx.doi.org/
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Human PPP1R26P1 Functions as cis-Repressive Element in Mouse Rb1In: PLoS ONE Jg. 8 (2013) Nr. 9, S. e74159ISSN: 1932-6203Online Volltext: dx.doi.org/ (Open Access)
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Molekulargenetische Diagnostik von Imprinting-ErkrankungenIn: Biospektrum Jg. 19 (2013) Nr. 7, S. 753 - 758ISSN: 0947-0867; 1868-6249Online Volltext: dx.doi.org/
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Molekulargenetische Diagnostik von Imprintingerkrankungen : Relevanz von MultilocusmethylierungsdefektenIn: Medizinische Genetik Jg. 25 (2013) Nr. 1, S. 5 - 14ISSN: 1863-5490; 0936-5931Online Volltext: dx.doi.org/
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The Origin of the RB1 ImprintIn: PLoS ONE Jg. 8 (2013) Nr. 11, S. e81502ISSN: 1932-6203Online Volltext: dx.doi.org/ (Open Access)
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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 sitesIn: Human Molecular Genetics Jg. 22 (2013) Nr. 3, S. 544 - 557ISSN: 1460-2083; 0964-6906Online Volltext: dx.doi.org/
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Weichenstellungen im Genom : Die Epigenetik erklärt, wie uns frühe Entwicklungsereignisse dauerhaft prägenIn: Unikate: Berichte aus Forschung und Lehre (2013) Nr. 44: Medizin: 50 Jahre Universitätsklinikum Essen, S. 12 - 21ISBN: 978-3-934359-44-4 ISSN: 0944-6060; 1869-3881Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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An Alu Element–Associated Hypermethylation Variant of the POMC Gene Is Associated with Childhood ObesityIn: PLoS Genetics Jg. 8 (2012) Nr. 3,ISSN: 1553-7390; 1553-7404Online Volltext: dx.doi.org/ (Open Access)
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Parental Diabetes : The Akita Mouse as a Model of the Effects of Maternal and Paternal Hyperglycemia in Wildtype OffspringIn: PLoS ONE Jg. 7 (2012) Nr. 11, S. e50210ISSN: 1932-6203Online Volltext: dx.doi.org/ (Open Access)
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The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated proteinIn: Human Molecular Genetics Jg. 21 (2012) Nr. 18, S. 4038 - 4048ISSN: 1460-2083; 0964-6906Online Volltext: dx.doi.org/ (Open Access)
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Waddington's epigenetic landscape and post-Darwinian biologyIn: BioEssays Jg. 34 (2012) Nr. 8, S. 711 - 712ISSN: 0265-9247; 1521-1878Online Volltext: dx.doi.org/
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Altered Development of NKT Cells, γδ T Cells, CD8 T Cells and NK Cells in a PLZF Deficient PatientIn: PLoS ONE Jg. 6 (2011) Nr. 9,ISSN: 1932-6203Online Volltext: dx.doi.org/ (Open Access)
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Automated syndrome detection in a set of clinical facial photographsIn: American Journal of Medical Genetics, Part A Jg. 155 (2011) Nr. 9, S. 2161 - 2169ISSN: 1552-4825; 1552-4833Online Volltext: dx.doi.org/
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EFS shows biallelic methylation in uveal melanoma with poor prognosis as well as tissue-specific methylationIn: BMC Cancer Jg. 11 (2011) S. 380ISSN: 1471-2407Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Genetic aspects of familial Ménière's diseaseIn: Otology & Neurotology Jg. 32 (2011) Nr. 4, S. 695 - 700ISSN: 1531-7129; 1537-4505Online Volltext: dx.doi.org/
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Genetic determination of human facial morphology : Links between cleft-lips and normal variationIn: European Journal of Human Genetics Jg. 19 (2011) Nr. 11, S. 1192 - 1197ISSN: 1476-5438Online Volltext: dx.doi.org/
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Hormone-induced delayed ovulation affects early embryonic developmentIn: Fertility and Sterility Jg. 95 (2011) Nr. 7, S. 2390 - 2394ISSN: 0015-0282; 1556-5653Online Volltext: dx.doi.org/
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Parental origin and functional relevance of a de novo UBE3A variantIn: European Journal of Medical Genetics (EJMG) Jg. 54 (2011) Nr. 1, S. 19 - 24ISSN: 1878-0849; 1769-7212Online Volltext: dx.doi.org/
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A DNA-hypermethylation polymorphism in the POMC gene is associated with childhood obesity and affects a P300 binding siteIn: European Journal of Pediatric Jg. 169 (2010) Nr. 3, S. 385 - 385ISSN: 0340-6199
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A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemiaIn: Blood Jg. 115 (2010) Nr. 12, S. 2462 - 2472ISSN: 1528-0020; 0006-4971Online Volltext: dx.doi.org/
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Aging of Xenopus tropicalis Eggs Leads to Deadenylation of a Specific Set of Maternal mRNAs and Loss of Developmental PotentialIn: PLoS ONE Jg. 5 (2010) Nr. 10, S. e13532ISSN: 1932-6203Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistanceIn: European Journal of Human Genetics Jg. 18 (2010) Nr. 6, S. 656 - 661ISSN: 1018-4813; 1476-5438Online Volltext: dx.doi.org/
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Comment on: Jowett et al. (2010) Genetic variation at the FTO locus influences RBL2 gene expression. Diabetes;59:726-732In: Diabetes Jg. 59 (2010) Nr. 7,ISSN: 1939-327X; 0012-1797Online Volltext: dx.doi.org/ (Open Access)
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Coronary artery calcification and its relationship to validated genetic variants for diabetes mellitus assessed in the heinz nixdorf recall cohortIn: Arteriosclerosis, Thrombosis, and Vascular Biology Jg. 30 (2010) Nr. 9, S. 1867 - 1872ISSN: 1079-5642; 1524-4636Online Volltext: dx.doi.org/ (Open Access)
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Genomisches Imprinting und ImprintingfehlerIn: Medizinische Genetik Jg. 22 (2010) Nr. 4, S. 385 - 391ISSN: 1863-5490; 0936-5931Online Volltext: dx.doi.org/
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Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2/H19 ICR1In: International Journal of Andrology Jg. 33 (2010) Nr. 4, S. 642 - 649ISSN: 1365-2605; 0105-6263Online Volltext: dx.doi.org/ (Open Access)
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Imprinting of RB1 (the new kid on the block)In: Briefings in Functional Genomics and Proteomics Jg. 9 (2010) Nr. 4, S. 347 - 353ISSN: 2041-2657; 1477-4062Online Volltext: dx.doi.org/
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Mechanisms of imprint dysregulationIn: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics Jg. 154 (2010) Nr. 3, S. 321 - 328ISSN: 1552-4876; 1552-4868Online Volltext: dx.doi.org/
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The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selectionIn: Neurogenetics Jg. 11 (2010) Nr. 2, S. 153 - 161ISSN: 1364-6753; 1364-6745Online Volltext: dx.doi.org/
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The obesity-associated SNPs in intron 1 of the FTO gene affect primary transcript levelsIn: European Journal of Human Genetics Jg. 18 (2010) Nr. 9, S. 1054 - 1056ISSN: 1476-5438; 1018-4813Online Volltext: dx.doi.org/
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Altern und Sterblichkeit : eine Perspektive der Genetik und EvolutionIn: Unikate: Berichte aus Forschung und Lehre (2009) Nr. 35 : Natur-/Geisteswissenschaften – Sterben, Tod – und dann?, S. 8 - 19ISSN: 0944-6060
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Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesisIn: European Journal of Human Genetics Jg. 17 (2009) Nr. 11, S. 1463 - 1470ISSN: 1018-4813Online Volltext: dx.doi.org/
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Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasiaIn: Journal of Medical Genetics (eJMG) Jg. 45 (2008) Nr. 11, S. 731 - 737ISSN: 1468-6244; 0022-2593Online Volltext: dx.doi.org/
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Loss of heterozygosity of 1p in uveal melanomas with monosomy 3In: International Journal of Cancer Jg. 116 (2005) Nr. 6, S. 909 - 913ISSN: 0020-7136; 1097-0215Online Volltext: dx.doi.org/
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Gespräch mit Bernhard Horsthemke : DNS-Diagnosen für Risiko-FamilienIn: Essener Unikate: Berichte aus Forschung und Lehre (1992) Nr. 1: Medizin - Krebsforschung, S. 54 - 58ISSN: 1869-3881Online Volltext (Open Access)
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Notwendig für die Regulation des Zellzyklus - Diagnose und Therapie des RetinoblastomsIn: Essener Unikate: Berichte aus Forschung und Lehre (1992) Nr. 1: Medizin - Krebsforschung, S. 46 - 53ISSN: 1869-3881Online Volltext (Open Access)
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Imprinting disorders : Novel findings and translation into diagnostics and managementIn: Medizinische Genetik Jg. 32 (2020) Nr. 4, S. 295 - 296ISSN: 0936-5931; 1863-5490Online Volltext: dx.doi.org/ (Open Access)
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Whole-genome methylation analysis of testicular germ cells from cryptozoospermic men points to recurrent and functionally relevant DNA methylation changesIn: Human Reproduction Jg. 36 (2021) Nr. Suppl. 1, S. 378ISSN: 1460-2350; 0268-1161
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The adult phenotype of Schaaf-Yang syndrome
53rd European Society of Human Genetics (ESHG) Conference ; June 6-9, 2020, Virtual Conference,In: European Journal of Human Genetics Jg. 28 (2020) Nr. Supplement 1, S. 360ISSN: 1476-5438; 1018-4813Online Volltext: dx.doi.org/ -
The sperm epigenome does not display recurrent epimutations in patients with severely impaired spermatogenesis
53rd European Society of Human Genetics (ESHG) Conference ; June 6-9, 2020, Virtual Conference,In: European Journal of Human Genetics Jg. 28 (2020) Nr. Supplement 1, S. 158 - 159ISSN: 1018-4813; 1476-5438Online Volltext: dx.doi.org/ -
Impact of postovulatory oocyte aging on initiation of genome activation in murine 2-cell embryosIn: Human Reproduction Jg. 30 (2015) Nr. S 1, S. 237 - 237ISSN: 0268-1161; 1460-2350Online Volltext: dx.doi.org/
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Addressing Genomic Imprinting in a Family-based Genome-wide Association Study
nineteenth annual meeting of the International Genetic Epidemiology Society,In: Genetic Epidemiology Jg. 34 (2010) Nr. 8, S. 943 - 943ISSN: 0741-0395; 1098-2272Online Volltext: dx.doi.org/ -
Locus-specific DNA methylation analysis by targeted deep bisulfite sequencingIn: Epigenome Editing: Methods and Protocols 2018, S. 351 - 366ISBN: 978-1-4939-7773-4; 978-1-4939-7774-1Online Volltext: dx.doi.org/
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EpigeneticsIn: Vogel and motulsky's human genetics: problems and approaches / Motulsky, Arno G.; Speicher, Michael R.; Antonarakis, Stylianos E. (Hrsg.) 2010, S. 299 - 318ISBN: 9783540376545; 9783540376538Online Volltext: dx.doi.org/