المؤلفون: Essers, R, Lebedev, IN, Kurg, A, Fonova, EA, Stevens, SJC, Koeck, RM, von Rango, U, Brandts, L, Deligiannis, SP, Nikitina, TV, Sazhenova, EA, Tolmacheva, EN, Kashevarova, AA, Fedotov, DA, Demeneva, VV, Zhigalina, DI, Drozdov, GV, Al-Nasiry, S, Macville, MVE, van den Wijngaard, A, Dreesen, J, Paulussen, A, Hoischen, A, Brunner, HG, Salumets, A, Esteki, MZ

المصدر: Nature medicine. 29(12):3233-3242

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:154251995

المؤلفون: Janssen AEJ; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Koeck RM; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Essers R; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Cao P; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., van Dijk W; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Drüsedau M; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Meekels J; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Yaldiz B; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., van de Vorst M; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., de Koning B; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Sun SM; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Heijligers M; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., de Munnik SA; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., van Uum CMJ; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Achten J; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Hamers L; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Naghdi M; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.; Faculty of Psychology and Neuroscience, Section Applied Social Psychology, Maastricht University, Maastricht, The Netherlands., Vissers LELM; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., van Golde RJT; Department of Obstetrics and Gynaecology, GROW Research Institute for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., de Wert G; Department of Health, Ethics and Society, GROW Research Institute for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.; CAPHRI Research Institute for Public Health and Primary Care, Maastricht University, Maastricht, The Netherlands., Dreesen JCFM; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., de Die-Smulders C; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Coonen E; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Obstetrics and Gynaecology, GROW Research Institute for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Brunner HG; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Paulussen ADC; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Zamani Esteki M; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands. masoud.zamaniesteki@mumc.nl.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands. masoud.zamaniesteki@mumc.nl.; Division of Obstetrics and Gynaecology, Department of Clinical Science, Intervention & Technology (CLINTEC), Karolinska Institutet, Stockholm, Sweden. masoud.zamaniesteki@mumc.nl.

المصدر: Nature communications [Nat Commun] 2024 Sep 02; Vol. 15 (1), pp. 7164. Date of Electronic Publication: 2024 Sep 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Preimplantation Diagnosis*/methods , Whole Genome Sequencing*/methods, Humans ; Female ; Fertilization in Vitro/methods ; Genetic Testing/methods ; Aneuploidy ; Pregnancy ; DNA, Mitochondrial/genetics ; High-Throughput Nucleotide Sequencing/methods ; Genome, Human/genetics

المؤلفون: Haghshenas S; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Karimi K; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Stevenson RE; Greenwood Genetic Center, Greenwood, SC 29646, USA., Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Rzasa J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Lauzon-Young C; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Balci TB; Department of Pediatrics, Division of Medical Genetics, Western University, London, ON, Canada; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, ON, Canada., White-Brown AM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Carter MT; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Richer J; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Armour CM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Sawyer SL; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Bhola PT; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Tedder ML; Greenwood Genetic Center, Greenwood, SC 29646, USA., Skinner CD; Greenwood Genetic Center, Greenwood, SC 29646, USA., van Rooij IALM; Department IQ Health, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands., van de Putte R; Department IQ Health, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands., de Blaauw I; Department of Surgery-Pediatric Surgery, Radboudumc Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands., Koeck RM; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, the Netherlands; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, the Netherlands., Hoischen A; Department of Human Genetics and Donders Center for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands; Center for Infectious Diseases (RCI), Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, the Netherlands., Brunner H; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, the Netherlands; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, the Netherlands; Department of Human Genetics and Donders Center for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands., Esteki MZ; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, the Netherlands; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, the Netherlands., Pelet A; Laboratory of Embryology and Genetics of Human Malformations, Institut National de La Santé et de La Recherche Médicale (INSERM) UMR 1163, Institut Imagine and Université Paris Cité, Paris, France., Lyonnet S; Laboratory of Embryology and Genetics of Human Malformations, Institut National de La Santé et de La Recherche Médicale (INSERM) UMR 1163, Institut Imagine and Université Paris Cité, Paris, France; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, Paris, France., Amiel J; Laboratory of Embryology and Genetics of Human Malformations, Institut National de La Santé et de La Recherche Médicale (INSERM) UMR 1163, Institut Imagine and Université Paris Cité, Paris, France; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, Paris, France., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada. Electronic address: kboycott@cheo.on.ca., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca.

المصدر: American journal of human genetics [Am J Hum Genet] 2024 Aug 08; Vol. 111 (8), pp. 1643-1655. Date of Electronic Publication: 2024 Jul 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: DNA Methylation*, Humans ; Female ; Male ; Abnormalities, Multiple/genetics ; Limb Deformities, Congenital/genetics ; Limb Deformities, Congenital/diagnosis

المؤلفون: Koeck RM; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Busato F; Laboratory for Epigenetics & Environment, CEA-Centre National de Recherche en Genomique Humaine, Evry, France., Tost J; Laboratory for Epigenetics & Environment, CEA-Centre National de Recherche en Genomique Humaine, Evry, France., Zandstra H; Department of Obstetrics and Gynaecology, GROW School for Oncology and Reproduction, Maastricht University Medical Centre+, Maastricht, The Netherlands., Remy S; Health Unit, Flemish Institute for Technological Research (VITO), Mol, Belgium., Langie S; Health Unit, Flemish Institute for Technological Research (VITO), Mol, Belgium.; Department of Pharmacology & Toxicology, School for Nutrition and Translational Research in Metabolism (NUTRIM), Maastricht University, The Netherlands., Gielen M; Department of Epidemiology and Nutrition and Translational Research in Metabolism (NUTRIM), Maastricht University Medical Centre, Maastricht, the Netherlands., van Golde R; Department of Obstetrics and Gynaecology, GROW School for Oncology and Reproduction, Maastricht University Medical Centre+, Maastricht, The Netherlands., Dumoulin JCM; Department of Obstetrics and Gynaecology, GROW School for Oncology and Reproduction, Maastricht University Medical Centre+, Maastricht, The Netherlands., Brunner H; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Zamani Esteki M; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., van Montfoort APA; Department of Obstetrics and Gynaecology, GROW School for Oncology and Reproduction, Maastricht University Medical Centre+, Maastricht, The Netherlands.

المصدر: Human reproduction (Oxford, England) [Hum Reprod] 2022 Oct 31; Vol. 37 (11), pp. 2709-2721.

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

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 8701199 Publication Model: Print Cited Medium: Internet ISSN: 1460-2350 (Electronic) Linking ISSN: 02681161 NLM ISO Abbreviation: Hum Reprod Subsets: MEDLINE

مواضيع طبية MeSH: Epigenome* , Reproductive Techniques, Assisted*, Child ; Humans ; Birth Weight ; DNA Methylation ; Follow-Up Studies ; Randomized Controlled Trials as Topic

المؤلفون: Koeck RM; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Busato F; Laboratory for Epigenetics & Environment, Centre National de Recherche en Genomique Humaine, CEA - institut de Biologie François Jacob, Université Paris Saclay, 91000, Evry, France., Tost J; Laboratory for Epigenetics & Environment, Centre National de Recherche en Genomique Humaine, CEA - institut de Biologie François Jacob, Université Paris Saclay, 91000, Evry, France., Consten D; Center for Reproductive Medicine, St. Elisabeth-TweeSteden Hospital, Hilvarenbeekseweg 60, 5022, GC, Tilburg, the Netherlands., van Echten-Arends J; Section of Reproductive Medicine, Department of Obstetrics and Gynecology, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9713, GZ, Groningen, the Netherlands., Mastenbroek S; Center for Reproductive Medicine, Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, the Netherlands., Wurth Y; Center for Reproductive Medicine, St. Elisabeth-TweeSteden Hospital, Hilvarenbeekseweg 60, 5022, GC, Tilburg, the Netherlands., Remy S; Health Unit, Flemish Institute for Technological Research (VITO), Boeretang 200, 2400, Mol, Belgium., Langie S; Health Unit, Flemish Institute for Technological Research (VITO), Boeretang 200, 2400, Mol, Belgium.; Department of Pharmacology & Toxicology, School for Nutrition and Translational Research in Metabolism (NUTRIM), Maastricht University, Maastricht, The Netherlands., Nawrot TS; Centre for Environmental Sciences, Hasselt University, Diepenbeek, Belgium.; Department of Public Health and Primary Care, Leuven University (KU Leuven), Leuven, Belgium., Plusquin M; Centre for Environmental Sciences, Hasselt University, Diepenbeek, Belgium., Alfano R; Centre for Environmental Sciences, Hasselt University, Diepenbeek, Belgium., Bijnens EM; Centre for Environmental Sciences, Hasselt University, Diepenbeek, Belgium.; Department of Human Structure and Repair, Ghent University Hospital, Ghent, Belgium., Gielen M; Department of Epidemiology and Nutrition and Toxicology Research Institute Maastricht (NUTRIM), Maastricht University Medical Centre, Maastricht, the Netherlands., van Golde R; Department of Obstetrics and Gynaecology, GROW School for Oncology and Reproduction, Maastricht University Medical Center+, Maastricht, The Netherlands., Dumoulin JCM; Department of Obstetrics and Gynaecology, GROW School for Oncology and Reproduction, Maastricht University Medical Center+, Maastricht, The Netherlands., Brunner H; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van Montfoort APA; Department of Obstetrics and Gynaecology, GROW School for Oncology and Reproduction, Maastricht University Medical Center+, Maastricht, The Netherlands. aafke.van.montfoort@mumc.nl., Zamani Esteki M; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, The Netherlands. masoud.zamaniesteki@mumc.nl.; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands. masoud.zamaniesteki@mumc.nl.

المصدر: NPJ genomic medicine [NPJ Genom Med] 2022 Jun 29; Vol. 7 (1), pp. 39. Date of Electronic Publication: 2022 Jun 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE