المؤلفون: Karen Peeraer, Maire Peters, Eftychia Dimitriadou, Katleen Hostens, Michiel Vanneste, Andres Salumets, Sophie Debrock, Joris Vermeesch, Ellen Denayer, Céline Pirard, Heleen Masset, Jia Ding, Anne De Leener, Olga Tšuiko, Arne van de Vijver, Candice Kluyskens, Cindy Melotte

المساهمون: UCL - SSS/IREC/GYNE - Pôle de Gynécologie, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de gynécologie et d'andrologie

المصدر: NPJ genomic medicine, Vol. 6, no. 1, p. 81 [1-10] (2021)
NPJ Genomic Medicine
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: SELECTION, Genomic instability, INSTABILITY, Aneuploidy, HUMAN OOCYTES, Biology, QH426-470, Development, Article, EMBRYOS, NUMBER, Meiosis, BLASTOCYSTS, Chromosome instability, medicine, Homologous chromosome, Genetics, Molecular Biology, Genetics (clinical), Genetic testing, Genetics & Heredity, Science & Technology, medicine.diagnostic_test, ABNORMALITIES, Haplotype, Blastomere, medicine.disease, CHROMOSOMAL MOSAICISM, SEGMENTAL ANEUPLOIDIES, WHOLE, embryonic structures, Medicine, Ploidy, Life Sciences & Biomedicine

وصف الملف: Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92376e8215a1795ef6dd6a3b27f0bee6Test
https://hdl.handle.net/2078.1/261189Test

المؤلفون: Bernard Grisart, Armelle Duquenne, Naïri Khudashvili, Margot van Riel, Eva Sammels, Leonor Palmeira, Elise Vantroys, Leen Vancoillie, Bruno Pichon, Nathalie Brison, Annelies Dheedene, Bettina Blaumeiser, Kris Van Den Bogaert, Katrien Janssens, Sandra Janssens, Axel Marichal, François Boemer, Machteld Baetens, Joris Vermeesch, Ilse Parijs, Yves Sznajer, Jean-Stéphane Gatot, Koenraad Devriendt, Annelies Fieuw, Laura Bourlard, Nathalie Fieremans, Julie Désir, Guillaume Smits, Saskia Bulk, Ellen Roets, Colombine Meunier, Marion Suenaert, Lore Lannoo, Anne De Leener, Lotte Vandeputte

المساهمون: UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Centre des maladies neuro-cutanées congénitales

المصدر: Obstetrics and gynecology
Obstetrics and gynecology, Vol. 137, no. 6, p. 1102-1108 (2021)

مصطلحات موضوعية: medicine.medical_specialty, Trisomy 13 Syndrome, Noninvasive Prenatal Testing, Aneuploidy, Trisomy, Sensitivity and Specificity, Multiple Gestation, Pregnancy, Quadruplet, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, medicine, Humans, Amnion, 030212 general & internal medicine, Diagnostic Errors, False Negative Reactions, Twin Pregnancy, Retrospective Studies, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, Genome, Human, Obstetrics, business.industry, Obstetrics and Gynecology, Retrospective cohort study, Chorion, Fetal Resorption, Pregnancy, Triplet, medicine.disease, Cohort, Amniocentesis, Pregnancy, Twin, Gestation, Female, Human medicine, Down Syndrome, Pregnancy, Multiple, business, Cell-Free Nucleic Acids, Trisomy 18 Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b528dfdf7f380424bf87e194c5212cbTest
https://hdl.handle.net/10067/1841600151162165141Test

المؤلفون: Anne De Leener, François Duhoux, Martine Berlière, Peter Vuylsteke, Ahmad Merhi, Miikka Vikkula, Isabelle Bar, Cédric van Marcke, Françoise Rothé, Pascal Brouillard, Céline A Schoonjans, Nisha Limaye, Christine Galant, Jean Pascal Machiels, Elsa Khoury, Paul Delrée, Raphaël Helaers, Jean-Luc Canon, Jérôme Ambroise

المساهمون: UCL - SSS/DDUV - Institut de Duve, UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service d'oncologie médicale, UCL - (SLuc) Centre du cancer, UCL - SSS/IREC/MIRO - Pôle d'imagerie moléculaire, radiothérapie et oncologie, UCL - (SLuc) Département de biologie clinique et d'anatomie pathologique, UCL - SSS/DDUV/GEHU - Génétique

المصدر: Breast cancer research : BCR, Vol. 22, no. 1, p. 36 (2020)
Breast cancer research : BCR, Vol. 22, no.1, p. 36 (2020)
Breast Cancer Research : BCR
Breast cancer research, 22 (1
Breast Cancer Research, Vol 22, Iss 1, Pp 1-13 (2020)

مصطلحات موضوعية: Adult, DNA Copy Number Variations, Germline, Mutational signatures, Predisposition, Breast Neoplasms, Biology, medicine.disease_cause, lcsh:RC254-282, Whole Exome Sequencing, 03 medical and health sciences, Breast cancer, 0302 clinical medicine, Germline mutation, Risk Factors, Exome Sequencing, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, CHEK2, Gene, Germ-Line Mutation, Aged, 030304 developmental biology, Genetic testing, BRCA2 Protein, Genetics, 0303 health sciences, Mutation, medicine.diagnostic_test, BRCA1 Protein, Variant of unknown significance, Second hit, Middle Aged, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, medicine.disease, Cancérologie, 030220 oncology & carcinogenesis, Female, Neoplasm Grading, Carcinogenesis, Research Article

وصف الملف: 1 full-text file(s): application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f9f3cb847994143a9c1d004b4eb5befTest
https://doi.org/10.1186/s13058-020-01273-yTest

المؤلفون: Sandra Janssens, Koenraad Devriendt, Joris Vermeesch, Julie Désir, J. Muys, Erik Fransen, Marjan De Rademaeker, Bettina Blaumeiser, Saskia Bulk, Katrien Janssens, Damien Lederer, Armelle Duquenne, Laura Bourlard, Björn Menten, Kathelijn Keymolen, Mauricette Jamar, Nathalie Brison, Ann Van Den Bogaert, Annelies Dheedene, Yves Sznajer, Yves Jacquemyn, Jean-Stéphane Gatot, Anne Destree, Bruno Pichon, Patrizia Chiarappa, Jorien Kerstjens, Annelies Fieuw, Kris Van Den Bogaert, Anne De Leener, Sonia Rombout

المساهمون: Clinical sciences, Medical Genetics

المصدر: Prenatal diagnosis

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, DNA Copy Number Variations, Context (language use), 030105 genetics & heredity, Congenital Abnormalities, National cohort, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Belgium, Pregnancy, Prenatal Diagnosis, medicine, Humans, Copy-number variation, Genetics (clinical), Chromosome Aberrations, 030219 obstetrics & reproductive medicine, business.industry, Significant difference, Infant, Newborn, Pregnancy Outcome, Follow up studies, Infant, Obstetrics and Gynecology, Microarray Analysis, medicine.disease, Child development, eye diseases, Patient population, Case-Control Studies, Child, Preschool, Female, Human medicine, business, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b52db2e8dae2d0cf945fa66c52a30acTest
https://repository.uantwerpen.be/docstore/d:irua:2802Test

المؤلفون: Anne De Leener, Caroline Kannengiesser, Caroline Dahlqvist, Anne-sophie Petit, Antoine Froidure, Raphael Borie

المصدر: Idiopathic interstitial pneumonias.

مصطلحات موضوعية: medicine.medical_specialty, medicine.diagnostic_test, business.industry, Genetic counseling, Lung fibrosis, Interstitial lung disease, medicine.disease, Pulmonary function testing, Idiopathic pulmonary fibrosis, Fibrosis, Internal medicine, Pulmonary fibrosis, medicine, business, Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c269e15854b79673c919e1da0e917a11Test
https://doi.org/10.1183/13993003.congress-2019.pa4709Test

المؤلفون: Gaëlle Tilman, Marie-Christiane Vekemans, Maxime Beyaert, Nicolas Vanlangendonck, Anne De Leener, Eric Van Den Neste, Françoise Bontemps, Ana Cristina González Pérez, Pascale Saussoy, Eliza Starczewska

المصدر: Oncotarget

مصطلحات موضوعية: p53, 0301 basic medicine, DNA damage, Chronic lymphocytic leukemia, Purine analogue, 03 medical and health sciences, 0302 clinical medicine, stomatognathic system, Downregulation and upregulation, hemic and lymphatic diseases, Medicine, UV-C, Genetics, business.industry, Activator (genetics), fludarabine, medicine.disease, Fludarabine, ATR, 030104 developmental biology, Oncology, Apoptosis, 030220 oncology & carcinogenesis, Cancer research, Phosphorylation, biological phenomena, cell phenomena, and immunity, business, CLL, Research Paper, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e67b6aaa7e420c6f375a6360dcd906e0Test
https://doi.org/10.18632/oncotarget.18144Test

المؤلفون: Ann Verhaegen, Olivier Van Caenegem, Raymond Kacenelenbogen, Michel Guillaume, Fabian Demeure, Caroline Wallemacq, Olivier Vanakker, Anna A.H. Mertens, Michel Hermans, Antoine Bondue, Anne De Leener, Stephane Carlier, Walter Desmet, Pieter Vermeersch, Ernst Rietzschel, Ivan Elegeert, Fabien Chenot, Jean-Louis Vanoverschelde, Emilie Castermans, Christophe Beauloye, Olivier S. Descamps, Antoine De Meester, E. Hoffer, Christophe De Block, Marc J. Claeys, Jean-Luc Balligand, Nicolas Paquot, Attilio Leone, Michel Langlois, Herbert De Raedt, Patrizio Lancellotti

المساهمون: BAS, BSC, RBSLM, Clinical sciences, Vrije Universiteit Brussel, Faculty of Arts and Philosophy, UCL - SSS/IREC/FATH - Pôle de Pharmacologie et thérapeutique, UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - SSS/IREC/CARD - Pôle de recherche cardiovasculaire, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Service de pathologie cardiovasculaire, UCL - (SLuc) Service de pathologies cardiovasculaires intensives, UCL - (SLuc) Service de soins intensifs, UCL - (SLuc) Service d'endocrinologie et de nutrition, UCL - (SLuc) Service de médecine interne générale, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (MGD) Service de cardiologie

المصدر: Atherosclerosis
Atherosclerosis, 277
Atherosclerosis, Vol. 277, p. 369-376 (2018)

مصطلحات موضوعية: Cardiac & Cardiovascular Systems, Cardiologie et circulation, IMPACT, CHILDREN, Disease, 030204 cardiovascular system & hematology, Workflow, 0302 clinical medicine, Belgium, Risk Factors, Prevalence, CRITERIA, 030212 general & internal medicine, Myocardial infarction, CARDIOLOGY, education.field_of_study, Autosomal dominant lipoprotein disorder, Prognosis, Cardiovascular disease, Phenotype, Cardiovascular Diseases, Critical Pathways, Lipoprotein disorder, Cardiology and Cardiovascular Medicine, Familial hypercholesterolaemia, Life Sciences & Biomedicine, Algorithms, Genetic Markers, Coronary care unit, medicine.medical_specialty, Consensus, Clinical Decision-Making, Population, Cascade screening, DIAGNOSIS, Risk Assessment, Significant elevation, Decision Support Techniques, Hyperlipoproteinemia Type II, 03 medical and health sciences, Predictive Value of Tests, EUROPEAN ATHEROSCLEROSIS SOCIETY, medicine, MANAGEMENT, Humans, Genetic Predisposition to Disease, Low-density lipoprotein cholesterol, Intensive care medicine, education, Alirocumab, Science & Technology, business.industry, Coronary Care Units, ALIROCUMAB, Cholesterol, LDL, medicine.disease, Peripheral Vascular Disease, MYOCARDIAL-INFARCTION, Mutation, Cardiovascular System & Cardiology, Human medicine, business, Biomarkers, GENETIC-DEFECTS

وصف الملف: Print; 2 full-text file(s): application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fa7fe6a13da8ba1575f688d75a2eeb4Test
https://lirias.kuleuven.be/handle/123456789/629864Test

المؤلفون: Catheline Vilain, Maria-Franca Musumeci, Vanessa Wermenbol, Nelle Lambert, Sandra Acosta, Anne De Leener, Camille Perazzolo, Bruno Pichon, Diana Messina, Barbara Dessars, Marc Abramowicz, Jelle van den Ameele

المصدر: Autism Research. 7:617-622

مصطلحات موضوعية: Genetics, Candidate gene, General Neuroscience, Epigenetics of autism, medicine.disease, Penetrance, Null allele, Frameshift mutation, Autism spectrum disorder, mental disorders, medicine, Autism, Heritability of autism, Neurology (clinical), Psychology, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ec15a42f7d4bf73b153d1d6e0ec9cc1aTest
https://doi.org/10.1002/aur.1396Test

المؤلفون: Miikka Vikkula, Martine Berlière, François Duhoux, Cédric van Marcke, Anne De Leener

المصدر: Critical reviews in oncology/hematology. 108

مصطلحات موضوعية: 0301 basic medicine, Breast Neoplasms, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Germline mutation, Risk Factors, Gene panel, Medicine, Humans, Genetic Predisposition to Disease, Gene, Germ-Line Mutation, BRCA2 Protein, business.industry, BRCA1 Protein, Cancer, High-Throughput Nucleotide Sequencing, Hematology, medicine.disease, Penetrance, 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, business, Hereditary Breast Cancer

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f8c6c15d716707e96a44d48bab4dcb1Test
https://pubmed.ncbi.nlm.nih.gov/27931838Test

المؤلفون: Carolyn Tysoe, Anne De Leener, Sema Akçurin, Gilbert Vassart, Sian Ellard, Doga Turkkahraman, Sabine Costagliola

المصدر: European Journal of Pediatrics. 167:1231-1237

مصطلحات موضوعية: Male, endocrine system, medicine.medical_specialty, Goiter, endocrine system diseases, Gene Expression, Biology, Transfection, Hyperthyroidism, Iodide Peroxidase, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Thyroid function tests, Germline, TSHR Gene Mutation, Exon, Germline mutation, Internal medicine, Cyclic AMP, medicine, Humans, Point Mutation, Missense mutation, Germ-Line Mutation, medicine.diagnostic_test, Infant, Newborn, Receptors, Thyrotropin, Valine, medicine.disease, Anti-thyroid autoantibodies, Thyroxine, Endocrinology, Child, Preschool, Pediatrics, Perinatology and Child Health, Triiodothyronine, hormones, hormone substitutes, and hormone antagonists, Immunoglobulins, Thyroid-Stimulating

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1df39e6d34269171c2d54f059b9508cTest
https://doi.org/10.1007/s00431-007-0659-9Test