المؤلفون: Mackay Deborah J.G., Eggermann Thomas, Buiting Karin, Garin Intza, Netchine Irène, Linglart Agnès, de Nanclares Guiomar Perez

المصدر: Biomolecular Concepts, Vol 6, Iss 1, Pp 47-57 (2015)

مصطلحات موضوعية: angelman syndrome, beckwith-wiedemann syndrome, imprinting disorder, multilocus methylation defect, prader-willis syndrome, pseudohypoparathyroidism type 1b, silver-russell syndrome, temple syndrome, transient neonatal diabetes, wang-kagami-ogata syndrome, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1868-5021; https://doaj.org/toc/1868-503X

URL الوصول: https://doaj.org/article/f4bb39fe19704f8686920ef63fe2b309

المؤلفون: Thomas Eggermann, Agnès Linglart, Deborah J G Mackay, Irène Netchine, Karin Buiting, Intza Garin, Guiomar Perez de Nanclares

المصدر: Biomolecular Concepts, Vol 6, Iss 1, Pp 47-57 (2015)

مصطلحات موضوعية: QH301-705.5, Medizin, Epigenetics of autism, Biology, General Biochemistry, Genetics and Molecular Biology, Genomic Imprinting, Cellular and Molecular Neuroscience, Angelman syndrome, medicine, Animals, Chromosomes, Human, Humans, angelman syndrome, Biology (General), Allele, Imprinting (psychology), pseudohypoparathyroidism type 1b, Gene, beckwith-wiedemann syndrome, imprinting disorder, Genetics, wang-kagami-ogata syndrome, Genetic Diseases, Inborn, silver-russell syndrome, General Medicine, Methylation, DNA Methylation, medicine.disease, transient neonatal diabetes, Genetic Loci, DNA methylation, multilocus methylation defect, prader-willis syndrome, Genomic imprinting, temple syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9025a4ed65154d84dc65da47302f6bd5
https://doi.org/10.1515/bmc-2014-0037

المؤلفون: Begemann, Matthias

المساهمون: Eggermann, Thomas

المصدر: Aachen : Publikationsserver der RWTH Aachen University IV, 133 Bl. : Ill., graph. Darst. (2013). = Aachen, Techn. Hochsch., Diss., 2013

مصطلحات موضوعية: MS-SNuPE, imprinting disorder, Erkrankung, Genetisches Imprinting, methylation defects, Imprinting, MLMD, uniparentale Disomie, Methylierung, uniparental disomie, Biowissenschaften, Biologie, ddc:570, Methylierungsdefekte, Krankheit, multilocus methylation defect, Silver-Russell-Syndrom, Genomische Prägung

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______791::8e7fd41ba8adcfb37490eafee56d9ad9

المؤلفون: Paganini L; a Division of Pathology; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico; Department of Pathophysiology & Transplantation; Università degli Studi di Milano ; Milano , Italy., Carlessi N, Fontana L, Silipigni R, Motta S, Fiori S, Guerneri S, Lalatta F, Cereda A, Sirchia S, Miozzo M, Tabano S

المصدر: Epigenetics [Epigenetics] 2015; Vol. 10 (7), pp. 643-9.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101265293 Publication Model: Print Cited Medium: Internet ISSN: 1559-2308 (Electronic) Linking ISSN: 15592294 NLM ISO Abbreviation: Epigenetics Subsets: MEDLINE

مواضيع طبية MeSH: DNA Methylation* , Prenatal Diagnosis*, Beckwith-Wiedemann Syndrome/*diagnosis , Chorionic Villi/*metabolism, Beckwith-Wiedemann Syndrome/genetics ; Cells, Cultured ; Female ; Genomic Imprinting ; Humans ; Pregnancy ; Promoter Regions, Genetic

المؤلفون: Eggermann T; Institute of Human Genetics, RWTH Technical University, Aachen, Germany. Electronic address: teggermann@ukaachen.de., Elbracht M, Schröder C, Reutter H, Soellner L, Spengler S, Begemann M

المصدر: The Journal of pediatrics [J Pediatr] 2013 Oct; Vol. 163 (4), pp. 1202-7. Date of Electronic Publication: 2013 Jul 01.

نوع المنشور: Clinical Conference; Journal Article

بيانات الدورية: Publisher: Mosby Country of Publication: United States NLM ID: 0375410 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6833 (Electronic) Linking ISSN: 00223476 NLM ISO Abbreviation: J Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Genomic Imprinting*, Abnormalities, Multiple/*genetics, Adolescent ; Child ; Child, Preschool ; Chromosome Mapping ; DNA Methylation ; Epigenesis, Genetic ; Female ; Genetic Association Studies ; Heterozygote ; Humans ; Infant ; Male ; Phenotype ; Syndrome ; Uniparental Disomy/genetics