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Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
- Source :
- 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
- Publication Year :
- 2018
-
Abstract
- Journal of medical genetics 55(7), 497-504 (2018). doi:10.1136/jmedgenet-2017-105190<br />Published by BMJ Publishing Group, London
- Subjects :
- 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
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- 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
- Accession number :
- edsair.doi.dedup.....14dfaa483c4974643e674ad1b94bc1f1