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Papers matching “epimutations” 9

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Molecular characterization of temple syndrome families with 14q32 epimutations
2020 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting

Johanna Brück, Matthias Begemann, Daniela Dey, Miriam Elbracht, Thomas Eggermann

6

citations
Constitutional epimutations in LTBP4, a component of the TGF-β signaling, and in BRCA1, as potential drivers of early-onset colorectal cancer
2025 Clinical Epigenetics article Medicine Genetic factors in colorectal cancer Open access

Mariona Terradas, Pilar Mur, Francisco D. Morón-Duran, Pol Mengod, Chiara Maria Lavinia Löffler, Noah C. Helderman, +12 more

2

citations
Additional file 1 of Constitutional epimutations in LTBP4, a component of the TGF-β signaling, and in BRCA1, as potential drivers of early-onset colorectal cancer
2025 Figshare article Medicine Genetic factors in colorectal cancer Open access

0

citations
Additional file 1 of Constitutional epimutations in LTBP4, a component of the TGF-β signaling, and in BRCA1, as potential drivers of early-onset colorectal cancer
2025 Figshare article Medicine Genetic factors in colorectal cancer Open access

0

citations
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important
2020 Journal of Molecular Medicine article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

Thomas Eggermann, Johanna Brück, Cordula Knopp, György Fekete, Christian Peter Kratz, Velibor B. Tasic, +4 more

20

citations
Clinical spectrum and management of imprinting disorders
2020 Medizinische Genetik article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

Miriam Elbracht, Gerhard Binder, Olaf Hiort, Cordula Kiewert, Christian Peter Kratz, Thomas Eggermann

11

citations
Genome-wide analysis of constitutional DNA methylation in familial melanoma
2020 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access

Catarina Salgado, Nelleke A. Gruis, Bastiaan T. Heijmans, Jan Oosting, Remco van Doorn

5

citations
MLH1 Promotor Hypermethylation in Colorectal and Endometrial Carcinomas from Patients with Lynch Syndrome
2023 Journal of Molecular Diagnostics article Medicine Genetic factors in colorectal cancer Open access

Noah C. Helderman, Katarina D. Andini, Monique Esther van Leerdam, Liselotte P. van Hest, Daniël R. Hoekman, Aysel Ahadova, +11 more

27

citations
Dynamic clonal hematopoiesis and functional T-cell immunity in a supercentenarian
2020 Leukemia article Medicine Acute Myeloid Leukemia Research Open access

Erik B. van den Akker, Stavros Makrodimitris, Marc Hulsman, Martijn H. Brugman, Tatjana Nikolić, Ted Bradley, +8 more

20

citations

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