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Beygo, Jasmin [Author] ; Horsthemke, Bernhard [Degree supervisor]; Rahmann, Sven [Degree supervisor]

Methylierungsanalysen und Charakterisierung epigenetischer Regulationselemente bei Imprintingerkrankungen

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Duisburg; Essen: Universitätsbibliothek Duisburg-Essen, 2015
Schwaibold, Eva [Author]; Beygo, Jasmin [Author]; Obeid, Katharina [Author]; Jauch, Anna [Author]; Hinderhofer, Katrin [Author]; Moog, Ute [Author]

A boy with Silver-Russell syndrome and Sotos syndrome

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61967

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2021

Published in: American journal of medical genetics ; 185(2021), 2, Seite 549-554
Beygo, Jasmin; Russo, Silvia; Tannorella, Pierpaola; Santen, Gijs W. E.; Dufke, Andreas; Schlaich, Elia; Eggermann, Thomas

Prenatal testing for imprinting disorders: A laboratory perspective

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Wiley, 2023

Published in: Prenatal Diagnosis, 43 (2023) 8, Seite 973-982
Schwaibold, Eva M. C.; Beygo, Jasmin; Obeid, Katharina; Jauch, Anna; Hinderhofer, Katrin; Moog, Ute

A boy with Silver–Russell syndrome and Sotos syndrome

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Wiley, 2021

Published in: American Journal of Medical Genetics Part A, 185 (2021) 2, Seite 549-554
Beygo, Jasmin; Grosser, Christian; Kaya, Sabine; Mertel, Claudia; Buiting, Karin; Horsthemke, Bernhard

Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15

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Springer Science and Business Media LLC, 2020

Published in: European Journal of Human Genetics, 28 (2020) 6, Seite 835-839
Beygo, Jasmin; Bürger, Joachim; Strom, Tim M.; Kaya, Sabine; Buiting, Karin

Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment

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Springer Science and Business Media LLC, 2019

Published in: European Journal of Human Genetics, 27 (2019) 6, Seite 903-908
Beygo, Jasmin; Buiting, Karin; Ramsden, Simon C.; Ellis, Rachael; Clayton-Smith, Jill; Kanber, Deniz

Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes

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Springer Science and Business Media LLC, 2019

Published in: European Journal of Human Genetics, 27 (2019) 9, Seite 1326-1340
Beygo, Jasmin; Mertel, Claudia; Kaya, Sabine; Gillessen-Kaesbach, Gabriele; Eggermann, Thomas; Horsthemke, Bernhard; Buiting, Karin

The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders

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Informa UK Limited, 2018

Published in: Epigenetics, 13 (2018) 8, Seite 822-828
Le Fevre, Anna; Beygo, Jasmin; Silveira, Cheryl; Kamien, Benjamin; Clayton‐Smith, Jill; Colley, Alison; Buiting, Karin; Dudding‐Byth, Tracy

Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature

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Wiley, 2017

Published in: American Journal of Medical Genetics Part A, 173 (2017) 3, Seite 753-757
Beygo, Jasmin; Joksic, Ivana; Strom, Tim M; Lüdecke, Hermann-Josef; Kolarova, Julia; Siebert, Reiner; Mikovic, Zeljko; Horsthemke, Bernhard; Buiting, Karin

A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome

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Springer Science and Business Media LLC, 2016

Published in: European Journal of Human Genetics, 24 (2016) 9, Seite 1280-1286
Laurentino, Sandra; Beygo, Jasmin; Nordhoff, Verena; Kliesch, Sabine; Wistuba, Joachim; Borgmann, Jennifer; Buiting, Karin; Horsthemke, Bernhard; Gromoll, Jörg

Epigenetic germline mosaicism in infertile men

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Oxford University Press (OUP), 2015

Published in: Human Molecular Genetics, 24 (2015) 5, Seite 1295-1304
Eggermann, Thomas; Heilsberg, Ann-Kathrin; Bens, Susanne; Siebert, Reiner; Beygo, Jasmin; Buiting, Karin; Begemann, Matthias; Soellner, Lukas

Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing

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Springer Science and Business Media LLC, 2014

Published in: Journal of Molecular Medicine, 92 (2014) 7, Seite 769-777
Buiting, Karin; Di Donato, Nataliya; Beygo, Jasmin; Bens, Susanne; von der Hagen, Maja; Hackmann, Karl; Horsthemke, Bernhard

Clinical phenotypes of MAGEL2 mutations and deletions

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Springer Science and Business Media LLC, 2014

Published in: Orphanet Journal of Rare Diseases, 9 (2014) 1
Beygo, Jasmin; Ammerpohl, Ole; Gritzan, Daniela; Heitmann, Melanie; Rademacher, Katrin; Richter, Julia; Caliebe, Almuth; Siebert, Reiner; Horsthemke, Bernhard; Buiting, Karin

Correction: Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects

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Public Library of Science (PLoS), 2013

Published in: PLoS ONE, 8 (2013) 12
Beygo, Jasmin; Ammerpohl, Ole; Gritzan, Daniela; Heitmann, Melanie; Rademacher, Katrin; Richter, Julia; Caliebe, Almuth; Siebert, Reiner; Horsthemke, Bernhard; Buiting, Karin

Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects

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Public Library of Science (PLoS), 2013

Published in: PLoS ONE, 8 (2013) 10, Seite e76953
Berland, Siren; Appelbäck, Mia; Bruland, Ove; Beygo, Jasmin; Buiting, Karin; Mackay, Deborah J G; Karen Temple, I; Houge, Gunnar

Evidence for anticipation in Beckwith–Wiedemann syndrome

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Springer Science and Business Media LLC, 2013

Published in: European Journal of Human Genetics, 21 (2013) 12, Seite 1344-1348
Schmetz, Ariane; Schaper, Jörg; Thelen, Simon; Rana, Majeed; Klenzner, Thomas; Schaumann, Katharina; Beygo, Jasmin; Surowy, Harald; Lüdecke, Hermann-Josef; Wieczorek, Dagmar

FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family

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MDPI AG, 2023

Published in: Genes, 14 (2023) 3, Seite 724
Hummel, Elisabeth; Elgizouli, Magdeldin; Sicorello, Maurizio; Leitão, Elsa; Beygo, Jasmin; Schröder, Christopher; Zeschnigk, Michael; Müller, Svenja; Herpertz, Stephan; Moser, Dirk; Kessler, Henrik; Horsthemke, Bernhard; Kumsta, Robert

No evidence for intervention-associated DNA methylation changes in monocytes of patients with posttraumatic stress disorder

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Springer Science and Business Media LLC, 2022

Published in: Scientific Reports, 12 (2022) 1
Monk, David; Morales, Joannella; den Dunnen, Johan T.; Russo, Silvia; Court, Franck; Prawitt, Dirk; Eggermann, Thomas; Beygo, Jasmin; Buiting, Karin; Tümer, Zeynep

Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains

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Informa UK Limited, 2018

Published in: Epigenetics, 13 (2018) 2, Seite 117-121
Eggermann, Thomas; Oehl‐Jaschkowitz, Barbara; Dicks, Severin; Thomas, Wolfgang; Kanber, Deniz; Albrecht, Beate; Begemann, Matthias; Kurth, Ingo; Beygo, Jasmin; Buiting, Karin

The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?

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Wiley, 2017

Published in: Molecular Genetics & Genomic Medicine, 5 (2017) 6, Seite 668-677

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