1. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences
- Author
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Thomas Eggermann, Elzem Yapici, Jet Bliek, Arrate Pereda, Matthias Begemann, Silvia Russo, Pierpaola Tannorella, Luciano Calzari, Guiomar Perez de Nanclares, Paola Lombardi, I. Karen Temple, Deborah Mackay, Andrea Riccio, Masayo Kagami, Tsutomu Ogata, Pablo Lapunzina, David Monk, Eamonn R. Maher, Zeynep Tümer, Eggermann, Thomas [0000-0002-8419-0264], Apollo - University of Cambridge Repository, Human Genetics, ARD - Amsterdam Reproduction and Development, ACS - Pulmonary hypertension & thrombosis, Eggermann, Thoma, Yapici, Elzem, Bliek, Jet, Pereda, Arrate, Begemann, Matthia, Russo, Silvia, Tannorella, Pierpaola, Calzari, Luciano, de Nanclares, Guiomar Perez, Lombardi, Paola, Temple, I Karen, Mackay, Deborah, Riccio, Andrea, Kagami, Masayo, Ogata, Tsutomu, Lapunzina, Pablo, Monk, David, Maher, Eamonn R, and Tümer, Zeynep
- Subjects
Beckwith-Wiedemann Syndrome ,Ubiquitin-Protein Ligases ,Endocrinology and Metabolic Epigenetics ,Differentially methylated regions ,Loss of methylation ,Multi locus imprinting disturbance ,Growth disturbances ,Growth disturbance ,Imprinting disorder ,Genomic Imprinting ,Transient neonatal diabetes mellitu ,Beckwith–Wiedemann syndrome spectrum ,Pregnancy ,Genetics ,Epimutation ,Humans ,Transient neonatal diabetes mellitus ,Molecular Biology ,Genetics (clinical) ,Adaptor Proteins, Signal Transducing ,Research ,Uniparental disomy ,Gain of methylation ,Differentially methylated region ,DNA Methylation ,Epimutations ,Silver-Russell Syndrome ,CCAAT-Enhancer-Binding Proteins ,Female ,Maternal Inheritance ,Imprinting disorders ,Silver–Russell syndrome spectrum ,Developmental Biology - Abstract
Clin Epigenetics 14, 41 (2022). doi:10.1186/s13148-022-01259-x, Published by BioMed Central, [S.l.]
- Published
- 2022
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