Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Dave Nicholas Monk"'
Publikováno v:
Nature reviews. Genetics (Online) 20 (2019): 235–248. doi:10.1038/s41576-018-0092-0
info:cnr-pdr/source/autori:Monk D.; Mackay D.J.G.; Eggermann T.; Maher E.R.; Riccio A./titolo:Genomic imprinting disorders: lessons on how genome, epigenome and environment interact/doi:10.1038%2Fs41576-018-0092-0/rivista:Nature reviews. Genetics (Online)/anno:2019/pagina_da:235/pagina_a:248/intervallo_pagine:235–248/volume:20
Dipòsit Digital de la UB
Universidad de Barcelona
info:cnr-pdr/source/autori:Monk D.; Mackay D.J.G.; Eggermann T.; Maher E.R.; Riccio A./titolo:Genomic imprinting disorders: lessons on how genome, epigenome and environment interact/doi:10.1038%2Fs41576-018-0092-0/rivista:Nature reviews. Genetics (Online)/anno:2019/pagina_da:235/pagina_a:248/intervallo_pagine:235–248/volume:20
Dipòsit Digital de la UB
Universidad de Barcelona
Genomic imprinting, the monoallelic and parent-of-origin-dependent expression of a subset of genes, is required for normal development. Its disruption leads to human disease involving isolated or multi-locus epigenetic changes that can be traced back
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50fbddadd60a5fb5d8a862639e9f3520
https://doi.org/10.1038/s41576-018-0092-0
https://doi.org/10.1038/s41576-018-0092-0
Autor:
Djg Mackay, Andrea Riccio, Zeynep Tümer, Matthias Begemann, Lukas Soellner, Irene Netchine, Karen Grønskov, Eamonn R. Maher, Agnès Linglart, Dave Nicholas Monk, I K Temple, Thomas Eggermann
Publikováno v:
Clinical Genetics. 91:3-13
Imprinting disorders (ImpDis) are a group of currently 12 congenital diseases with common underlying (epi)genetic etiologies and overlapping clinical features affecting growth, development and metabolism. In the last years it has emerged that ImpDis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2653a41921bd3c6a310c8b7dce7672c3
https://doi.org/10.1111/cge.12827
https://doi.org/10.1111/cge.12827
Autor:
Agnès Linglart, Deborah J G Mackay, Eamonn R. Maher, Karen Grønskov, Irene Netchine, Guiomar Perez de Nanclares, Andrea Riccio, I. Karen Temple, Zeynep Tümer, Thomas Eggermann, Dave Nicholas Monk
Publikováno v:
Clinical epigenetics 7, 123 (2015). doi:10.1186/s13148-015-0143-8
Clinical Epigenetics
Clinical Epigenetics, BioMed Central, 2015, 7 (1), pp.123. ⟨10.1186/s13148-015-0143-8⟩
Clinical Epigenetics, 2015, 7 (1), pp.123. ⟨10.1186/s13148-015-0143-8⟩
Clinical epigenetics
7 (2015): 123. doi:10.1186/s13148-015-0143-8
info:cnr-pdr/source/autori:Eggermann T.; Perez de Nanclares G.; Maher E.R.; Temple I.K.; Tumer Z.; Monk D.; Mackay D.J.G.; Gronskov K.; Riccio A.; Linglart A.; Netchine I./titolo:Imprinting disorders: A group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci/doi:10.1186%2Fs13148-015-0143-8/rivista:Clinical epigenetics (Print)/anno:2015/pagina_da:123/pagina_a:/intervallo_pagine:123/volume:7
Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelona
Clinical Epigenetics
Clinical Epigenetics, BioMed Central, 2015, 7 (1), pp.123. ⟨10.1186/s13148-015-0143-8⟩
Clinical Epigenetics, 2015, 7 (1), pp.123. ⟨10.1186/s13148-015-0143-8⟩
Clinical epigenetics
7 (2015): 123. doi:10.1186/s13148-015-0143-8
info:cnr-pdr/source/autori:Eggermann T.; Perez de Nanclares G.; Maher E.R.; Temple I.K.; Tumer Z.; Monk D.; Mackay D.J.G.; Gronskov K.; Riccio A.; Linglart A.; Netchine I./titolo:Imprinting disorders: A group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci/doi:10.1186%2Fs13148-015-0143-8/rivista:Clinical epigenetics (Print)/anno:2015/pagina_da:123/pagina_a:/intervallo_pagine:123/volume:7
Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelona
International audience; Congenital imprinting disorders (IDs) are characterised by molecular changes affecting imprinted chromosomal regions and genes, i.e. genes that are expressed in a parent-of-origin specific manner. Recent years have seen a grea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92c3bad2093372061da365807915ca8e
https://doi.org/10.1186/s13148-015-0143-8
https://doi.org/10.1186/s13148-015-0143-8
Autor:
Andrea Riccio, Karen Grønskov, Agnès Linglart, Thomas Eggermann, Dave Nicholas Monk, Deborah J G Mackay, Eamonn R. Maher, Zeynep Tümer, Irène Netchine, I. Karen Temple
Publikováno v:
Clinical Epigenetics
Clinical Epigenetics, 2015, 7 (23), pp.1-10. ⟨10.1186/s13148-015-0050-z⟩
Clinical epigenetics
7 (2015). doi:10.1186/s13148-015-0050-z
info:cnr-pdr/source/autori:Eggermann T.; Netchine I.; Temple K.; Tumer Z.; Monk D.; Mackay D.; Gronskov K.; Riccio A.; Linglart A.; Maher E.R./titolo:Congenital imprinting disorders: Eucid.net-a network to decipher their aetiology and to improve the diagnostic and clinical care/doi:10.1186%2Fs13148-015-0050-z/rivista:Clinical epigenetics (Print)/anno:2015/pagina_da:/pagina_a:/intervallo_pagine:/volume:7
Clinical Epigenetics, BioMed Central, 2015, 7 (23), pp.1-10. ⟨10.1186/s13148-015-0050-z⟩
Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelona
Clinical epigenetics 7(1), 23 (2015). doi:10.1186/s13148-015-0050-z
Clinical Epigenetics, BioMed Central, 2015, 7 (23), pp.1-10. 〈10.1186/s13148-015-0050-z〉
Clinical Epigenetics, 2015, 7 (23), pp.1-10. ⟨10.1186/s13148-015-0050-z⟩
Clinical epigenetics
7 (2015). doi:10.1186/s13148-015-0050-z
info:cnr-pdr/source/autori:Eggermann T.; Netchine I.; Temple K.; Tumer Z.; Monk D.; Mackay D.; Gronskov K.; Riccio A.; Linglart A.; Maher E.R./titolo:Congenital imprinting disorders: Eucid.net-a network to decipher their aetiology and to improve the diagnostic and clinical care/doi:10.1186%2Fs13148-015-0050-z/rivista:Clinical epigenetics (Print)/anno:2015/pagina_da:/pagina_a:/intervallo_pagine:/volume:7
Clinical Epigenetics, BioMed Central, 2015, 7 (23), pp.1-10. ⟨10.1186/s13148-015-0050-z⟩
Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelona
Clinical epigenetics 7(1), 23 (2015). doi:10.1186/s13148-015-0050-z
Clinical Epigenetics, BioMed Central, 2015, 7 (23), pp.1-10. 〈10.1186/s13148-015-0050-z〉
International audience; Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11c9f75efcc109ec9035bba2a71fe5a3
https://hal.sorbonne-universite.fr/hal-01133017
https://hal.sorbonne-universite.fr/hal-01133017
