-
1
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 Barcelonaمصطلحات 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
-
2
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)
-
3
المؤلفون: Robert J. Grimer, Elena Arrigoni, Abdullah Alholle, Anna T. Brini, Ashraf Dallol, Seley Gharanei, Eamonn R. Maher, Smadar Avigad, Dean Gentle, Takeshi Kishida, Sumathi Vaiyapuri, Farida Latif, Toru Hiruma
المصدر: Epigenetics. 8:1198-1204
مصطلحات موضوعية: Cancer Research, Candidate gene, Bone Neoplasms, Sarcoma, Ewing, Biology, medicine.disease_cause, Epigenesis, Genetic, chemistry.chemical_compound, Cell Line, Tumor, medicine, Humans, Gene silencing, Gene Silencing, Epigenetics, Molecular Biology, Oligonucleotide Array Sequence Analysis, Gene Expression Profiling, Mesenchymal Stem Cells, Methylation, DNA Methylation, Molecular biology, Demethylating agent, Survival Rate, Gene expression profiling, chemistry, DNA methylation, Transcriptome, Carcinogenesis
-
4
المؤلفون: Gabriele Schackert, Dietmar Krex, Dean Gentle, Eamonn R. Maher, Wenbin Wei, Farida Latif, Victoria K. Hill, Thoraia Shinawi, Garth Cruickshank, Mark R. Morris
المصدر: Epigenetics. 8:149-156
مصطلحات موضوعية: Cancer Research, IDH1, Brain tumor, Biology, medicine.disease_cause, Bioinformatics, Central Nervous System Neoplasms, medicine, Humans, Survivors, Epigenetics, Molecular Biology, Mutation, Brief Report, Methylation, DNA Methylation, Prognosis, medicine.disease, Phenotype, Isocitrate Dehydrogenase, CpG site, DNA methylation, Cancer research, CpG Islands, Glioblastoma
-
5
المؤلفون: Eamonn R. Maher
المصدر: Seminars in Cancer Biology. 23:10-17
مصطلحات موضوعية: Epigenomics, Cancer Research, Genomics, Disease, Biology, urologic and male genital diseases, Bioinformatics, Translational Research, Biomedical, Germline mutation, Renal cell carcinoma, Biomarkers, Tumor, medicine, Carcinoma, Humans, Genetic Predisposition to Disease, Epigenetics, Carcinoma, Renal Cell, Germ-Line Mutation, medicine.disease, Kidney Neoplasms, female genital diseases and pregnancy complications, Gene Expression Regulation, Neoplastic, MicroRNAs, Kidney cancer
-
6
المؤلفون: Ignacio Bergadá, Maria Vittoria Cubellis, Eamonn R. Maher, Pablo Lapunzina, Thomas Eggermann, Gerhard Binder, Frédéric Brioude, Dirk Prawitt, Matthias Begemann
المساهمون: Thomas, Eggermann, Gerhard, Binder, Fr?d?ric, Brioude, Eamonn R., Maher, Pablo, Lapunzina, Cubellis, MARIA VITTORIA, Ignacio, Bergad?, Dirk, Prawitt, Matthias, Begemann
المصدر: Trends in molecular medicine. 20(11)
مصطلحات موضوعية: CDKN1C Gene, Beckwith-Wiedemann Syndrome, Beckwith–Wiedemann syndrome, Genetic Counseling, Biology, Osteochondrodysplasias, Genomic Imprinting, Cyclin-dependent kinase, medicine, Animals, Humans, Epigenetics, IMAGe Syndrome, Molecular Biology, Cyclin-Dependent Kinase Inhibitor p57, Genetic Association Studies, Genetics, Chromosome Aberrations, Fetal Growth Retardation, Silver–Russell syndrome, Point mutation, Chromosomes, Human, Pair 11, Disease Management, medicine.disease, Phenotype, Urogenital Abnormalities, Mutation, biology.protein, Molecular Medicine, Adrenal Insufficiency
-
7
المؤلفون: Timothy Isaac Johnson, Christian Frezza, Maxine Gia Binh Mg Tran, Patrick H. Maxwell, Simone Cardaci, Pedro R. Cutillas, Eamonn R. Maher, Haiyang Yun, Emanuel Gonçalves, Anne Y. Warren, Alizee Vercauteren Drubbel, Julio Saez-Rodriguez, Eyal Gottlieb, Sebastian Julian Theobald, Vincent J. Gnanapragasam, Brian J. P. Huntly, Sandra R Abbo, Vincent Zecchini, Ana S. H. Costa, Edoardo Gaude, Kristian Franze, Sarah Foster, Marco Sciacovelli, Vinothini Rajeeve
المساهمون: Warren, Anne [0000-0002-1170-7867], Gnanapragasam, Vincent [0000-0003-4722-4207], Franze, Kristian [0000-0002-8425-7297], Huntly, Brian [0000-0003-0312-161X], Maher, Eamonn [0000-0002-6226-6918], Maxwell, Patrick [0000-0002-0338-2679], Frezza, Christian [0000-0002-3293-7397], Apollo - University of Cambridge Repository
المصدر: Nature
Nature 537 (2016) 7621
Nature, 537(7621), 544-547مصطلحات موضوعية: 0301 basic medicine, Epithelial-Mesenchymal Transition, Cell, Biology, medicine.disease_cause, Epigenesis, Genetic, Fumarate Hydratase, Mesoderm, Mice, 03 medical and health sciences, Fumarates, Cell Movement, microRNA, medicine, Animals, Humans, Life Science, Epithelial–mesenchymal transition, Epigenetics, Transcription factor, Cells, Cultured, Multidisciplinary, Kidney Neoplasms, 3. Good health, MicroRNAs, HEK293 Cells, 030104 developmental biology, Histone, medicine.anatomical_structure, Biochemistry, Fumarase, biology.protein, Cancer research, Transcriptome, Carcinogenesis, Transcription Factors
وصف الملف: application/pdf; text/html; application/octet-stream
-
8
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 Barcelonaمصطلحات 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
-
9
المؤلفون: Emma L. Baple, Deborah J G Mackay, Louise E. Docherty, Lukas Soellner, Claire L. S. Turner, Emma Kivuva, Karin Buiting, Thomas Eggermann, Matthias Begemann, Rebecca L. Poole, Sarah F. Smithson, I. Karen Temple, Michal Patalan, Eamonn R. Maher, Julian P Hamilton-Shield, Bernhard Horsthemke, Jasmin Beygo, Jarosław Peregud-Pogorzelski, Sahar Mansour, Faisal I. Rezwan, Maria Gizewska
المساهمون: Mackay, Deborah JG [0000-0003-3088-4401], Apollo - University of Cambridge Repository
المصدر: Nature Communications
Nature Communications 6, 8086 (2015). doi:10.1038/ncomms9086مصطلحات موضوعية: Male, Beckwith-Wiedemann Syndrome, medicine.medical_treatment, Medizin, General Physics and Astronomy, Monozygotic twin, Autoantigens, Polymerase Chain Reaction, Infant, Newborn, Diseases, Epigenesis, Genetic, Diabetes mellitus genetics, Pregnancy, Imprinting (psychology), Genetics, Multidisciplinary, Nuclear Proteins, Hydatidiform Mole, 3. Good health, Uterine Neoplasms, DNA methylation, Female, Biologie, Infertility, Female, Adult, Adolescent, DNA Copy Number Variations, Mothers, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Mitochondrial Proteins, Genomic Imprinting, Young Adult, Diabetes Mellitus, medicine, Humans, Computer Simulation, Obesity, Epigenetics, Autistic Disorder, Assisted reproductive technology, Silver–Russell syndrome, Sequence Analysis, DNA, Twins, Monozygotic, General Chemistry, DNA Methylation, medicine.disease, Abortion, Spontaneous, Silver-Russell Syndrome, Mutation, Genomic imprinting
وصف الملف: text; spreadsheet; application/pdf
-
10
المؤلفون: Eamonn R. Maher, Derek Lim
المصدر: The Obstetrician & Gynaecologist. 12:37-42
مصطلحات موضوعية: Regulation of gene expression, Genetics, business.industry, DNA methylation, Gene expression, Medicine, Reproductive technology, Epigenetics, Genomic imprinting, business, Gene, Epigenomics
إعادة تعيين المنقحات
عرض المنقحات (%%عد%%)
PDF full text from Publisher 
Full Text via ClinicalKey