المؤلفون: Andrea Riccio, Thomas Eggermann, Eamonn R. Maher, Deborah J G Mackay, Dave Nicholas Monk

المساهمون: Monk, David, Mackay, Deborah J. G., Eggermann, Thoma, Maher, Eamonn R., Riccio, Andrea

المصدر: 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

مصطلحات موضوعية: Biology, Genome, Germline, Genomic Imprinting, 03 medical and health sciences, 0302 clinical medicine, Genetic, Genetics, Animals, Humans, Epigenetics, Imprinting (psychology), genome, Molecular Biology, Gene, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Genome, Human, Genetic Diseases, Inborn, Genomics, Epigenome, DNA Methylation, Epigenètica, epigenome and environment interact, Genòmica, DNA methylation, Genomic imprinting, 030217 neurology & neurosurgery

وصف الملف: application/pdf; text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50fbddadd60a5fb5d8a862639e9f3520
https://doi.org/10.1038/s41576-018-0092-0

المؤلفون: 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

المصدر: Clinical Genetics. 91:3-13

مصطلحات موضوعية: 0301 basic medicine, Genetics, Genetic counseling, Point mutation, Locus (genetics), 030105 genetics & heredity, Biology, medicine.disease, Phenotype, Uniparental disomy, 03 medical and health sciences, 030104 developmental biology, medicine, Copy-number variation, Epigenetics, Imprinting (psychology), Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2653a41921bd3c6a310c8b7dce7672c3
https://doi.org/10.1111/cge.12827

المؤلفون: 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

المساهمون: Service de néphrologie et pédiatrie générale [CHU Trousseau], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Rheinisch-Westfälische Technische Hochschule Aachen (RWTH), Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Molecular (Epi)Genetics Laboratory, Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Center, University of Cambridge [UK] (CAM), Wessex Clinical Genetics Service, School of Medicine, University of Southampton, Princess Anne Hospital, Human Genetics and Genomic Medicine group, Faculty of Medicine, Clinical genetic clinic, Copenhagen University Hospital, Cancer Epigenetics and Biology Program-PEBC, Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), DISTABiF, Seconda Universita di Napoli, Institute of Genetics and Biophysics—ABT, Service d'endocrinologie et diabétologie pédiatriques - Le Kremlin-Bicêtre, HAL-UPMC, Gestionnaire, Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Maher, Eamonn [0000-0002-6226-6918], Apollo - University of Cambridge Repository, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Eggermann, Thoma, Perez de Nanclares, Guiomar, Maher, Eamonn R, Temple, I. Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah J. G, Grønskov, Karen, Riccio, Andrea, Linglart, Agnè, Netchine, Irène

المصدر: 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

مصطلحات موضوعية: Imprinted genes, ADN, Review, Disease, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, DNA sequencing, Imprinting disorder, Imprinted gene, Malalties hereditàries, Genetics, medicine, Epimutation, Epigenetics, Imprinting (psychology), Molecular Biology, Gene, Genetics (clinical), [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Uniparental disomy, DNA, medicine.disease, Human genetics, 3. Good health, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Erratum, Genomic imprinting, Genetic disorders, Imprinting disorders, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Developmental Biology

وصف الملف: text; applicaton/octet-stream; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92c3bad2093372061da365807915ca8e
https://doi.org/10.1186/s13148-015-0143-8

المؤلفون: 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

المساهمون: Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Human Genetics and Genomic Medicine group, Faculty of Medicine, Clinical genetic clinic, Copenhagen University Hospital, Cancer Epigenetics and Biology Program-PEBC, Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), Institute of Genetics and Biophysics 'A. Buzzati Traverso', Consiglio Nazionale delle Ricerche [Roma] (CNR), DISTABiF, Seconda Universita di Napoli, Immunologie et génétique du diabète de type 1, génétique multifactorielle en endocrinologie pédiatrique (U986), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Endocrinology and diabetology for children, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Center, University of Cambridge [UK] (CAM), Administateur, HAL Sorbonne Université, Rheinisch-Westfälische Technische Hochschule Aachen (RWTH), Eggermann, Thoma, Netchine, Irène, Temple, Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah, Grønskov, Karin, Riccio, Andrea, Linglart, Agnè, Maher, Eamonn R., National Research Council of Italy | Consiglio Nazionale delle Ricerche (CNR), Maher, Eamonn [0000-0002-6226-6918], Apollo - University of Cambridge Repository, RWTH Aachen University [Aachen], Centre de Recherche Saint-Antoine ( CR Saint-Antoine ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Pediatric endocrinology, Institut d'Investigació Biomèdica de Bellvitge [Barcelone] ( IDIBELL ), Consiglio Nazionale delle Ricerche [Roma] ( CNR ), Immunologie et génétique du diabète de type 1, génétique multifactorielle en endocrinologie pédiatrique ( U986 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), University of Cambridge [UK] ( CAM )

المصدر: 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〉

مصطلحات موضوعية: Imprinted genes, Collaborative network, Review, Biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Bioinformatics, Imprinting disorder, 03 medical and health sciences, Imprinted gene, Networking, [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, Genetics, medicine, Malalties hereditàries, Epimutation, ddc:610, Clinical care, Imprinting (psychology), [ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human genetics, Molecular Biology, Genetics (clinical), 030304 developmental biology, 0303 health sciences, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, EUCID.net, 030305 genetics & heredity, Uniparental disomy, medicine.disease, Human genetics, 3. Good health, Rare diseases, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Etiology, DECIPHER, Malalties rares, Genomic imprinting, Imprinting disorders, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Developmental Biology, Genetic diseases

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11c9f75efcc109ec9035bba2a71fe5a3
https://hal.sorbonne-universite.fr/hal-01133017