Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
| Autor: | Begemann, Matthias, Rezwan, Faisal I., Beygo, Jasmin, Docherty, Louise E., Kolarova, Julia, Schroeder, Christopher, Buiting, Karin, Chokkalingam, Kamal, Degenhardt, Franziska, Wakeling, Emma L., Kleinle, Stephanie, González Fassrainer, Daniela, Oehl-Jaschkowitz, Barbara, Turner, Claire L. S., Patalan, Michal, Gizewska, Maria, Binder, Gerhard, Bich Ngoc, Can Thi, Chi Dung, Vu, Mehta, Sarju G., Baynam, Gareth, Hamilton-Shield, Julian P., Aljareh, Sara, Lokulo-Sodipe, Oluwakemi, Horton, Rachel, Siebert, Reiner, Elbracht, Miriam, Temple, Isabel Karen, Eggermann, Thomas, Mackay, Deborah J. G. |
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| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
Beckwith-Wiedemann Syndrome
Medizin multi-locus imprinting disorder NLRP5 Infant Newborn Diseases NLRP7 NLRP2 Genomic Imprinting Protein-Arginine Deiminase Type 6 Pregnancy Humans Germ-Line Mutation Adaptor Proteins Signal Transducing PADI6 Chromosomes Human Pair 11 Infant Newborn DNA Methylation Pedigree genomic imprinting Silver-Russell Syndrome Protein-Arginine Deiminases Beckwith-Wiedemann syndrome Epigenetics Female Maternal Inheritance Silver-Russell syndrome Apoptosis Regulatory Proteins |
| Zdroj: | Begemann, M, Rezwan, F I, Beygo, J, Docherty, L E, Kolarova, J, Schroeder, C, Buiting, K, Chokkalingam, K, Degenhardt, F, Wakeling, E L, Kleinle, S, González Fassrainer, D, Oehl-Jaschkowitz, B, Turner, C L S, Patalan, M, Gizewska, M, Binder, G, Bich Ngoc, C T, Chi Dung, V, Mehta, S G, Baynam, G, Hamilton-Shield, J P, Aljareh, S, Lokulo-Sodipe, O, Horton, R, Siebert, R, Elbracht, M, Temple, I K, Eggermann, T & Mackay, D J G 2018, ' Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring ', Journal of Medical Genetics, vol. 55, no. 7, pp. 497-504 . https://doi.org/10.1136/jmedgenet-2017-105190 Begemann, M, Rezwan, F I, Beygo, J, Docherty, L E, Kolarova, J, Schroeder, C, Buiting, K, Chokkalingam, K, Degenhardt, F, Wakeling, E L, Kleinle, S, González Fassrainer, D, Oehl-jaschkowitz, B, Turner, C L S, Patalan, M, Gizewska, M, Binder, G, Bich Ngoc, C T, Chi Dung, V, Mehta, S G, Baynam, G, Hamilton-shield, J P, Aljareh, S, Lokulo-sodipe, O, Horton, R, Siebert, R, Elbracht, M, Temple, I K, Eggermann, T & Mackay, D J G 2018, ' Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2017-105190 Journal of medical genetics 55(7), 497-504 (2018). doi:10.1136/jmedgenet-2017-105190 Journal of Medical Genetics |
| DOI: | 10.1136/jmedgenet-2017-105190 |
| Popis: | Journal of medical genetics 55(7), 497-504 (2018). doi:10.1136/jmedgenet-2017-105190 Published by BMJ Publishing Group, London |
| Databáze: | OpenAIRE |
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