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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)
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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
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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
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المؤلفون: Wolf Reik, Derek Lim, Eamonn R. Maher, Louise Brueton, Sarah Bowdin, Edward Blair, Alan Fryer, Wayne Lam, Gail Kirby, Fiona Macdonald, Trevor Cole, Louise Tee, Christine Oley
المصدر: Human Reproduction. 24:741-747
مصطلحات موضوعية: Male, Beckwith-Wiedemann Syndrome, Reproductive Techniques, Assisted, Beckwith–Wiedemann syndrome, Fertilization in Vitro, Reproductive technology, Biology, Epigenesis, Genetic, Genomic Imprinting, medicine, Humans, Sperm Injections, Intracytoplasmic, Epigenetics, Allele, Imprinting (psychology), Child, Alleles, Genetics, Rehabilitation, Obstetrics and Gynecology, Genomics, DNA Methylation, medicine.disease, Phenotype, Differentially methylated regions, Reproductive Medicine, Child, Preschool, Mutation, Female, Genomic imprinting
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::985941c49b9377180e9cc1646781934a
https://doi.org/10.1093/humrep/den406 -
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المؤلفون: Wolf Reik, Gianfranco Sebastio, Gail A Evans, Hussain Raza, Sarah Bowdin, Jet Bliek, Wendy N. Cooper, Antonita C Haire, Andrea Riccio, Anita Luharia, Fiona Macdonald, Paul N. Schofield, Richard Grundy, Eamonn R. Maher
المساهمون: Human Genetics, Cooper, Wn, Luharia, A, Evans, Ga, Raza, H, Haire, Ac, Grundy, R, Bowdin, Sc, Riccio, Andrea, Sebastio, G, Bliek, J, Schofield, Pn, Reik, W, Macdonald, F, Maher, Er
المصدر: European journal of human genetics, 13(9), 1025-1032. Nature Publishing Group
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Beckwith-Wiedemann Syndrome, Genotype, Beckwith, Beckwith–Wiedemann syndrome, Biology, Wilms Tumor, Genomic Imprinting, Wiedemann, Neoplasms, Genetics, medicine, Humans, Epigenetics, Imprinting (psychology), Child, Hemihypertrophy, Alleles, Genetics (clinical), Base Sequence, KCNQ1OT1, Imprinting, Uniparental Disomy, medicine.disease, Uniparental disomy, Phenotype, DNA methylation, Cancer research, Female, Genomic imprinting
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المؤلفون: Eamonn R. Maher
المصدر: Human Molecular Genetics. 14:R133-R138
مصطلحات موضوعية: Risk, Infertility, Beckwith-Wiedemann Syndrome, Reproductive Techniques, Assisted, medicine.medical_treatment, Fertilization in Vitro, Biology, Bioinformatics, Intracytoplasmic sperm injection, Epigenesis, Genetic, Genomic Imprinting, Organ Culture Techniques, Angelman syndrome, Genetics, medicine, Humans, Epigenetics, Imprinting (psychology), Molecular Biology, Genetics (clinical), In vitro fertilisation, Assisted reproductive technology, Models, Genetic, General Medicine, Embryo, Mammalian, medicine.disease, Phenotype, Treatment Outcome, Mutation, Angelman Syndrome, Genomic imprinting
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7495a483fa50f291289ccc82b04d0ebd
https://doi.org/10.1093/hmg/ddi107 -
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المؤلفون: Wolf Reik, Eamonn R. Maher
المصدر: Trends in Genetics. 13:330-334
مصطلحات موضوعية: Genetics, Overgrowth syndrome, Beckwith–Wiedemann syndrome, medicine, Epigenetics, Biology, Imprinting (psychology), Genomic imprinting, Enhancer, medicine.disease, Phenotype, Gene
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المؤلفون: Bruce E. Hayward, Eamonn R. Maher, Eamonn Sheridan, Hussain Jafri, Graham R. Taylor, M. Reza Abdollahi, Michel De Vos, Nargese Talati, Kausar Nazir, Yasmin Rashid, David T. Bonthron, Denise Williams, Esther Meyer, Faridon Setna, Shahnaz Hussaini
المصدر: Human mutation. 30(5)
مصطلحات موضوعية: DNA Mutational Analysis, Biology, Epigenesis, Genetic, Evolution, Molecular, Genomic Imprinting, Molar pregnancy, SGCE, Pregnancy, Genetics, medicine, Humans, Epigenetics, Imprinting (psychology), Genetics (clinical), Phylogeny, Adaptor Proteins, Signal Transducing, Hydatidiform Mole, Sequence Analysis, DNA, DNA Methylation, medicine.disease, Phenotype, NLRP7, DNA methylation, Mutation, Uterine Neoplasms, Female, Genomic imprinting
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المؤلفون: Paul N. Schofield, Wolf Reik, Antonita Harper, Mitsuo Oshimura, Jacqueline R Engel, Michael J. Higgins, Alan V Smallwood, Eamonn R. Maher
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Beckwith-Wiedemann Syndrome, Potassium Channels, Genotype, Beckwith–Wiedemann syndrome, Mutation, Missense, Biology, Germline, Genomic Imprinting, Germline mutation, Insulin-Like Growth Factor II, Genetics, medicine, Humans, Epigenetics, Imprinting (psychology), Frameshift Mutation, Cyclin-Dependent Kinase Inhibitor p57, Genetics (clinical), Germ-Line Mutation, KCNQ Potassium Channels, Nuclear Proteins, Original Articles, DNA Methylation, medicine.disease, Uniparental disomy, Phenotype, Codon, Nonsense, Potassium Channels, Voltage-Gated, DNA methylation, KCNQ1 Potassium Channel, Genomic imprinting
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a9f7d7d365a2202f1fe2842b9d65394
https://europepmc.org/articles/PMC1734494/