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1Academic Journal
المؤلفون: Gabriel C. Dworschak, Hartmut Engels, Jessica Becker, Lukas Soellner, Thomas Eggermann, Florian Kipfmueller, Andreas Müller, Heiko Reutter, Martina Kreiß
المصدر: Frontiers in Pediatrics, Vol 6 (2018)
مصطلحات موضوعية: congenital diaphragmatic hernia, CDH, Beckwith-Wiedemann syndrome, BWS, 11p15 duplication, partial trisomy, Pediatrics, RJ1-570
وصف الملف: electronic resource
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2
المؤلفون: Florian Kraft, Thomas Eggermann, Ingo Kurth, Matthias Begemann, Miriam Elbracht, Lukas Soellner, Sabrina Sauer
المصدر: European Journal of Human Genetics. 27:42-48
مصطلحات موضوعية: Genetics, 0303 health sciences, Non-Mendelian inheritance, Polymorphism, Genetic, Chromosomes, Human, Pair 11, 030305 genetics & heredity, Copy number analysis, Maternal effect, Nuclear Proteins, Methylation, DNA Methylation, Biology, Autoantigens, Article, DNA sequencing, Mitochondrial Proteins, Silver-Russell Syndrome, 03 medical and health sciences, DNA methylation, Humans, Maternal Inheritance, Imprinting (psychology), Gene, Genetics (clinical)
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3
المؤلفون: Annegret Geipel, Lukas Soellner, Franziska Degenhardt, Matthias Begemann, Thomas Eggermann, Elisabeth Mangold
المصدر: European Journal of Human Genetics. 25:924-929
مصطلحات موضوعية: Adult, 0301 basic medicine, Heterozygote, Offspring, Perinatal Death, 030105 genetics & heredity, Biology, Article, Genomic Imprinting, 03 medical and health sciences, Pregnancy, Genetics, medicine, Humans, Imprinting (psychology), Allele, Fetal Viability, Fetal Death, Alleles, Genetics (clinical), Adaptor Proteins, Signal Transducing, Infant, Newborn, Maternal effect, DNA Methylation, medicine.disease, NLRP7, 030104 developmental biology, Codon, Nonsense, DNA methylation, Female, Genomic imprinting, Infant, Premature
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4
المؤلفون: Thomas Eggermann, Matthias Begemann, Gisela Raabe-Meyer, Lukas Soellner, R. Scheuvens, Miriam Elbracht, D. Meschede, Regine Schubert
المصدر: Clinical Genetics. 92:45-51
مصطلحات موضوعية: 0301 basic medicine, Specific chromosome, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, 030219 obstetrics & reproductive medicine, Clinical course, Trisomy 16, Prenatal diagnosis, Biology, medicine.disease, 03 medical and health sciences, Maternal uniparental disomy, 030104 developmental biology, 0302 clinical medicine, Chromosome 16, medicine, Imprinting (psychology), Genetics (clinical), Uniparental Disomies
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5
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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6
المؤلفون: Matthias Begemann, Angelika Riess, Gerhard Binder, Julian Ziegler, Thomas Eggermann, Lukas Soellner
المصدر: European Journal of Medical Genetics. 59:1-4
مصطلحات موضوعية: Male, 0301 basic medicine, Genetics, Zygote, Chromosomes, Human, Pair 11, Silver–Russell syndrome, Twins, Monozygotic, General Medicine, DNA Methylation, Biology, medicine.disease, X-inactivation, Silver-Russell Syndrome, 03 medical and health sciences, 030104 developmental biology, Insulin-Like Growth Factor II, medicine, Humans, Female, RNA, Long Noncoding, Imprinting (psychology), Genetics (clinical)
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7
المؤلفون: Matthias Begemann, Lukas Soellner, Deborah J G Mackay, Faisal I. Rezwan, David Monk, Thomas Eggermann
المصدر: Molecular and Cellular Probes. 29:282-290
مصطلحات موضوعية: medicine.diagnostic_test, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Cell Biology, Disease, Biology, Bioinformatics, Genome, Congenital Abnormalities, Epigenesis, Genetic, Genomic Imprinting, Mutation, medicine, Humans, Multilocus sequence typing, DECIPHER, Genetic Predisposition to Disease, Genetic Testing, Epigenetics, Genomic imprinting, Molecular Biology, Exome, Multilocus Sequence Typing, Genetic testing
وصف الملف: text
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8
المؤلفون: Büttel Hm, Matthias Begemann, Gijs W. E. Santen, Gerhard Binder, Zirn B, Schweizer R, Lukas Soellner, Thomas Eggermann, van Workum W, Elisa Wirthgen
المصدر: New England Journal of Medicine, 373(4), 349-356
مصطلحات موضوعية: Male, media_common.quotation_subject, medicine.medical_treatment, Nonsense, 030209 endocrinology & metabolism, Biology, medicine.disease_cause, IGF2 Mutation, Growth Restriction, Fathers, 03 medical and health sciences, 0302 clinical medicine, Growth restriction, Insulin-Like Growth Factor II, medicine, Humans, media_common.cataloged_instance, European union, Growth Disorders, 030304 developmental biology, Insulin-like growth factor 1 receptor, media_common, Genetics, 0303 health sciences, Mutation, Fetal Growth Retardation, Growth factor, Infant, Newborn, General Medicine, Phenotype, Pedigree, 3. Good health, Silver-Russell Syndrome, Codon, Nonsense, Female, Genomic imprinting
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9
المصدر: American Journal of Medical Genetics Part A. 167:1121-1124
مصطلحات موضوعية: Genetics, Mutation, animal structures, Polydactyly, Point mutation, Heterozygote advantage, Biology, medicine.disease, medicine.disease_cause, Penetrance, Phenotype, Holoprosencephaly, GLI2, medicine, Genetics (clinical)
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10
المؤلفون: Thomas Eggermann, Lukas Soellner, Jasmin Beygo, Susanne Bens, Reiner Siebert, Matthias Begemann, Karin Buiting, Ann-Kathrin Erika Heilsberg
المصدر: Journal of Molecular Medicine. 92:769-777
مصطلحات موضوعية: Genetics, Beckwith-Wiedemann Syndrome, medicine.diagnostic_test, business.industry, Chromosomes, Human, Pair 11, Genetic counseling, Medizin, Molecular medicine, Human genetics, Genomic Imprinting, Silver-Russell Syndrome, Mutation, Drug Discovery, Chromosomal region, medicine, Humans, Molecular Medicine, Epigenetics, Imprinting (psychology), Genomic imprinting, business, Genetics (clinical), Genetic testing
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11
المؤلفون: Matthias Begemann, Bernhard Horsthemke, Thomas Eggermann, Reiner Siebert, Karin Buiting, Lukas Soellner, Sabrina Spengler, Susanne Bens
المصدر: BIOspektrum. 19:753-758
مصطلحات موضوعية: Genetics, Pharmacology toxicology, Medizin, Locus (genetics), Methylation, Allele, Biology, Genomic imprinting, Molecular Biology, Gene, Phenotype, Human genetics, Biotechnology
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12
المؤلفون: Miriam Elbracht, Thomas Eggermann, Bernhard Horsthemke, Karin Buiting, Sabrina Spengler, Matthias Begemann, Lukas Soellner
المصدر: Medizinische Genetik. 25:5-14
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, Medizin, Genetics, medicine, business, Genetics (clinical)
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13
المؤلفون: Kathrin Maria Kopp, Matthias Begemann, S. Mütze, Klaus Zerres, Sabine Rudnik, Robert Meyer, Thomas Eggermann, Werner Rath, Lukas Soellner
المصدر: Journal of perinatal medicine. 46(2)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Statistics as Topic, Locus (genetics), Gene mutation, 03 medical and health sciences, Genomic Imprinting, 0302 clinical medicine, Pre-Eclampsia, Pregnancy, Germany, Missense mutation, Gene family, Medicine, Humans, Imprinting (psychology), Gene, Adaptor Proteins, Signal Transducing, Genetics, 030219 obstetrics & reproductive medicine, business.industry, Obstetrics and Gynecology, Infant, Methylation, DNA Methylation, NLRP7, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Mutation, Female, business
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المؤلفون: Lukas, Soellner, Sabrina, Spengler, Matthias, Begemann, Hartmut A, Wollmann, Gerhard, Binder, Thomas, Eggermann
المصدر: Journal of pediatric genetics. 2(3)
مصطلحات موضوعية: body regions, Article
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15
المؤلفون: Dirk Prawitt, Matthias Begemann, Jasmin Beygo, Thorsten Enklaar, Ole Ammerpohl, Thomas Eggermann, Jana Gutwein, Reiner Siebert, Andrea Haake, Susanne Thiele-Schmitz, Lukas Soellner, Julia Kolarova, Gabriele Gillessen-Kaesbach, Julia Richter, David Monk, Inga Vater, Ulrike Paul, Almuth Caliebe, Karin Buiting, Susanne Bens, Bernhard Horsthemke
المصدر: Epigenomics. 8(6)
مصطلحات موضوعية: 0301 basic medicine, Male, Cancer Research, Developmental Disabilities, Medizin, Biology, 03 medical and health sciences, Genomic Imprinting, Genotype, Genetics, Humans, Imprinting (psychology), Genetic Association Studies, Proteins, Methylation, Sequence Analysis, DNA, Temple Syndrome, DNA Methylation, Phenotype, DNA-Binding Proteins, 030104 developmental biology, Case-Control Studies, Cohort, DNA methylation, Female
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المؤلفون: Gudrun E. Moore, Irène Netchine, Krystyna H. Chrzanowska, Elizabeth M. Algar, Frédéric Brioude, Zeynep Tümer, Julián Nevado, Marcel M.A.M. Mannens, Jair Tenorio, Katja Eggermann, Maria Paola Lombardi, Lukas Soellner, Jet Bliek, Matthias Begemann, Malgorzata K. Walasek, Eamonn R. Maher, Silvia Russo, Pablo Lapunzina, Tsutomu Ogata, Thomas Eggermann, Karen Grønskov, Gabriele Gillessen-Kaesbach, Rosanna Weksberg, Deborah J G Mackay, Karen Temple, Lidia Larizza, Dirk Prawitt, Marie Gonzales, David Monk
المساهمون: Begemann, Matthias [0000-0002-4659-8437], Apollo - University of Cambridge Repository
المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madridمصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Beckwith-Wiedemann Syndrome, Genetic counseling, Beckwith–Wiedemann syndrome, Prenatal diagnosis, Genetic Counseling, Review, 03 medical and health sciences, Prenatal Diagnosis, Genetics, medicine, Humans, Genetic Testing, Genetics (clinical), Genetic testing, medicine.diagnostic_test, business.industry, Silver–Russell syndrome, medicine.disease, Uniparental disomy, Silver-Russell Syndrome, 030104 developmental biology, Chromosomal region, Medical genetics, business
وصف الملف: application/pdf
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المؤلفون: Thomas Eggermann, Rosanna Weksberg, Frédéric Brioude, Andrea Riccio, David Monk, Gudrun E. Moore, Fiona Macdonald, Karin Buiting, Irène Netchine, Pablo Lapunzina, Thalia Antoniadi, Zeynep Tümer, Matthias Begemann, Eamonn R. Maher, Katja Eggermann, Deborah J G Mackay, Dirk Prawitt, Paolo Lombardi, Elizabeth M. Algar, Jet Bliek, Lukas Soellner, Silvia Russo, Marcel M.A.M. Mannens, Karen Grønskov
المساهمون: Institut für Humangenetik, Rheinisch-Westfälische Technische Hochschule Aachen (RWTH), Department of Clinical Genetics, University of Amsterdam [Amsterdam] (UvA), 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), Genetics and Molecular Pathology Laboratory [Clayton], Monash Health and Hudson Institute, Institute of Human Genetics - Institut für Humangenetik [Essen], Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen)-Universitat Duisberg-Essen, Laboratory of Cytogenetics and Molecular Genetics, IRCCS, Department of Clinical Genetics [Copenhagen], Rigshospitalet [Copenhagen], Copenhagen University Hospital-Copenhagen University Hospital, Cancer Epigenetics and Biology Program-PEBC, Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), Fetal Growth and Developmental Group, University College of London [London] (UCL), West Midlands Regional Genetics Laboratory and Clinical Genetics Unit, Birmingham Women's Hospital, Center for Pediatrics and Adolescent Medicine [Mainz], University Medical Center [Mainz], DISTABiF, Seconda Universita di Napoli, Institute of Genetics and Biophysics, CNR, Naples, Departments of Paediatrics and Molecular Genetics [Toronto], University of Toronto, Division of Clinical and Metabolic Genetics [Toronto], The Hospital for sick children [Toronto] (SickKids), Program in genetics and genome biology, Institute of Medical Science, University of Toronto, INGEMM, Instituto de Genética Médica y Molecular, IDIPAZ-Hospital Universitario La Paz, Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), d'Eggis, Gilles, Eggermann, Katja, Bliek, Jet, Brioude, Frédéric, Algar, Elizabeth, Buiting, Karin, Russo, Silvia, Tümer, Zeynep, Monk, David, Moore, Gudrun, Antoniadi, Thalia, Macdonald, Fiona, Netchine, Irène, Lombardi, Paolo, Soellner, Luka, Begemann, Matthia, Prawitt, Dirk, Maher, Eamonn R, Mannens, Marcel, Riccio, Andrea, Weksberg, Rosanna, Lapunzina, Pablo, Grønskov, Karen, Mackay, Deborah JG, Eggermann, Thomas, Maher, Eamonn [0000-0002-6226-6918], Apollo - University of Cambridge Repository, Human Genetics, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, ACS - Amsterdam Cardiovascular Sciences
المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2016, ⟨10.1038/ejhg.2016.45⟩
European Journal of Human Genetics, 2016, ⟨10.1038/ejhg.2016.45⟩
European journal of human genetics, 24(10), 1377-1387. Nature Publishing Group
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
European journal of human genetics 24 (2016): 1377–1387. doi:10.1038/ejhg.2016.45
info:cnr-pdr/source/autori:Eggermann, Katja; Bliek, Jet; Brioude, Frederic; Algar, Elizabeth; Buiting, Karin; Russo, Silvia; Tumer, Zeynep; Monk, David; Moore, Gudrun; Antoniadi, Thalia; Macdonald, Fiona; Netchine, Irene; Lombardi, Paolo; Soellner, Lukas; Begemann, Matthias; Prawitt, Dirk; Maher, Eamonn R.; Mannens, Marcel; Riccio, Andrea; Weksberg, Rosanna; Lapunzina, Pablo; Gronskov, Karen; Mackay, Deborah J. G.; Eggermann, Thomas/titolo:EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome/doi:10.1038%2Fejhg.2016.45/rivista:European journal of human genetics/anno:2016/pagina_da:1377/pagina_a:1387/intervallo_pagine:1377–1387/volume:24مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Beckwith-Wiedemann Syndrome, Silver-Russell and Beckwith-Wiedemann syndrome, Best practice, Medizin, Beckwith–Wiedemann syndrome, MEDLINE, 030105 genetics & heredity, Biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Bioinformatics, Genomic Imprinting, 03 medical and health sciences, medicine, Genetics, Humans, Medical physics, Genetic Testing, Societies, Medical, Genetics (clinical), Genetic testing, Molecular Diagnostic Testing, medicine.diagnostic_test, Chromosomes, Human, Pair 11, Molecular genetic testing, Guideline, medicine.disease, 3. Good health, Europe, Silver-Russell Syndrome, Policy, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Practice Guidelines as Topic, Medical genetics
وصف الملف: application/force-download; text; application/pdf
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18
المؤلفون: Getrud Strobl-Wildemann, Matthias Begemann, Lukas Soellner, Jana Sachwitz, Thomas Eggermann, György Fekete, Laima Ambrozaitytė, Vaidutis Kučinskas
المصدر: BMC medical genetics 17, 20 (2016). doi:10.1186/s12881-016-0280-8
BMC Medical Genetics, London : BioMed Central Ltd., 2016, Vol. 17, Art. No. 20
BMC Medical Geneticsمصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Temple syndrome, Genomic imprinting, Chromosomes, Human, Pair 20, upd(20)mat, 030105 genetics & heredity, Biology, Cohort Studies, 03 medical and health sciences, parasitic diseases, Genetics, medicine, Humans, upd(6)mat, Genetics(clinical), Imprinting (psychology), Growth Disorders, Genetics (clinical), Chromosomes, Human, Pair 14, Silver–Russell syndrome, Uniparental disomy, Cytogenetics, Infant, Silver-Russell syndrome, upd(16)mat, medicine.disease, Phenotype, Human genetics, Silver-Russell Syndrome, 030104 developmental biology, Genetic Loci, Etiology, Chromosomes, Human, Pair 6, Female, Chromosomes, Human, Pair 16, Research Article
وصف الملف: application/pdf
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19
المؤلفون: Pille Mee, Lukas Soellner, Mari-Anne Vals, Katrin Õunap, Rita Teek, Kai Muru, Thomas Eggermann, Tiina Kahre, Maria Yakoreva, Kairit Joost
المصدر: Genetic testing and molecular biomarkers. 19(12)
مصطلحات موضوعية: Estonia, Male, medicine.medical_specialty, Beckwith-Wiedemann Syndrome, Beckwith–Wiedemann syndrome, Cell Cycle Proteins, Biology, Bioinformatics, Receptor, IGF Type 2, Tumor suppressor proteins, Internal medicine, medicine, Humans, Genetics (clinical), Silver–Russell syndrome, Tumor Suppressor Proteins, Infant, Newborn, Infant, General Medicine, Methylation, Original Articles, DNA Methylation, medicine.disease, Infant newborn, Silver-Russell Syndrome, DNA methylation, Female, Transcription Factors
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20
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
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