المؤلفون: Abderrahim Marouane, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers

المصدر: Frontiers in Genetics, Vol 14 (2024)

مصطلحات موضوعية: rapid exome sequencing, diagnostic workflow, turnaround time, clinical outcome, diagnostic yield, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1304520/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/364681d5e75041ca8dc96c630c12c069

المؤلفون: Peer Arts, Annet Simons, Mofareh S. AlZahrani, Elanur Yilmaz, Eman AlIdrissi, Koen J. van Aerde, Njood Alenezi, Hamza A. AlGhamdi, Hadeel A. AlJubab, Abdulrahman A. Al-Hussaini, Fahad AlManjomi, Alaa B. Alsaad, Badr Alsaleem, Abdulrahman A. Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker-Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad K. Habazi, Jayne Y. Hehir-Kwa, Stefanie S. Henriet, Esther P. Hoppenreijs, Sarah Hortillosa, Chantal H. Kerkhofs, Riikka Keski-Filppula, Stefan H. Lelieveld, Khurram Lone, Marius A. MacKenzie, Arjen R. Mensenkamp, Jukka Moilanen, Marcel Nelen, Jaap ten Oever, Judith Potjewijd, Pieter van Paassen, Janneke H. M. Schuurs-Hoeijmakers, Anna Simon, Tomasz Stokowy, Maartje van de Vorst, Maaike Vreeburg, Anja Wagner, Gijs T. J. van Well, Dimitra Zafeiropoulou, Evelien Zonneveld-Huijssoon, Joris A. Veltman, Wendy A. G. van Zelst-Stams, Eissa A. Faqeih, Frank L. van de Veerdonk, Mihai G. Netea, Alexander Hoischen

المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-15 (2019)

مصطلحات موضوعية: Routine diagnostics, Genetic diagnosis, Exome sequencing, Primary immunodeficiencies, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13073-019-0649-3; https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/1fc9affd647845a3af9208be55433db4

المؤلفون: Abderrahim Marouane, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, rapid exome sequencing, diagnostic workflow, turnaround time, clinical outcome, diagnostic yield

Relation: https://figshare.com/articles/dataset/Table2_Lessons_learned_from_rapid_exome_sequencing_for_575_critically_ill_patients_across_the_broad_spectrum_of_rare_disease_XLSX/24957450

الاتاحة: https://doi.org/10.3389/fgene.2023.1304520.s003
https://figshare.com/articles/dataset/Table2_Lessons_learned_from_rapid_exome_sequencing_for_575_critically_ill_patients_across_the_broad_spectrum_of_rare_disease_XLSX/24957450

المؤلفون: Abderrahim Marouane, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, rapid exome sequencing, diagnostic workflow, turnaround time, clinical outcome, diagnostic yield

Relation: https://figshare.com/articles/dataset/DataSheet1_Lessons_learned_from_rapid_exome_sequencing_for_575_critically_ill_patients_across_the_broad_spectrum_of_rare_disease_DOCX/24957435

الاتاحة: https://doi.org/10.3389/fgene.2023.1304520.s001
https://figshare.com/articles/dataset/DataSheet1_Lessons_learned_from_rapid_exome_sequencing_for_575_critically_ill_patients_across_the_broad_spectrum_of_rare_disease_DOCX/24957435

المؤلفون: Floor Willeboordse, Lieke M. van den Heuvel, Wendy A. G. van Zelst-Stams, Daphne Stemkens, Imke Christiaans

المساهمون: Human Genetics, ACS - Heart failure & arrhythmias

المصدر: Journal of Genetic Counseling, 29, 5, pp. 786-99
Journal of genetic counseling, 29(5), 786-799. SPRINGER
Journal of Genetic Counseling
Journal of genetic counseling. Kluwer Academic/Human Sciences Press Inc.
Journal of Genetic Counseling, 29, 786-99

مصطلحات موضوعية: Proband, Male, family, cascade screening, IMPACT, Disease, GENETIC INFORMATION, genetics services, 0302 clinical medicine, Risk Factors, Surveys and Questionnaires, Ethnicity, Genetics (clinical), Netherlands, 0303 health sciences, education.field_of_study, attitudes, communication, 030305 genetics & heredity, LYNCH SYNDROME, Autosomal dominant trait, service delivery models, Middle Aged, CANCER, Lynch syndrome, FAMILY-MEMBERS, 030220 oncology & carcinogenesis, Right to know, Female, Original Article, population perspectives, Attitude to Health, survey design, medicine.medical_specialty, Genetic counseling, Health Personnel, Population, Cascade screening, 03 medical and health sciences, medicine, Humans, inherited predisposition, Genetic Predisposition to Disease, Interpersonal Relations, Genetic Testing, education, business.industry, Metabolic Disorders Radboud Institute for Health Sciences [Radboudumc 6], Original Articles, medicine.disease, cascade testing, ethics, Family medicine, beliefs, business, autosomal dominant disease

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ff951047ce7ce5cfa15f4211ee474c6
https://doi.org/10.1002/jgc4.1206

المؤلفون: Wendy A. G. van Zelst-Stams, Jacqueline Pot, Karen van der Lande-Voskuil, Laura van Dussen, Daphne Stemkens, Anne-Marie de Ruiter

المصدر: Huisarts en wetenschap. 64:47-49

مصطلحات موضوعية: Family Practice

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5cbcfb831ae7902001072b29bb314a19
https://doi.org/10.1007/s12445-021-1031-4

المؤلفون: Wendy A. G. van Zelst-Stams, Alberta A H J Thiadens, Laurence H M Pierrache, Caroline C W Klaver, Rob W.J. Collin, Yvonne de Jong-Hesse, Lonneke Haer-Wigman, L. Ingeborgh van den Born, Muriël Messchaert

المساهمون: Ophthalmology, Epidemiology

المصدر: Investigative Ophthalmology and Visual Science, 60, 6, pp. 2049-2063
Pierrache, L H M, Messchaert, M, Thiadens, A A H J, Haer-Wigman, L, de Jong-Hesse, Y, van Zelst-Stams, W A G, Collin, R W J, Klaver, C C W & van den Born, L I 2019, ' Extending the spectrum of EYS-associated retinal disease to macular dystrophy ', Investigative Ophthalmology and Visual Science, vol. 60, no. 6, pp. 2049-2063 . https://doi.org/10.1167/iovs.18-25531
Investigative Ophthalmology and Visual Science, 60(6), 2049-2063
Investigative Ophthalmology & Visual Science, 60(6), 2049-2063. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 60, 2049-2063

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Visual acuity, DNA Mutational Analysis, Visual Acuity, Compound heterozygosity, Retina, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, Macular Degeneration, Young Adult, 0302 clinical medicine, All institutes and research themes of the Radboud University Medical Center, Ophthalmology, Retinitis pigmentosa, medicine, Electroretinography, Humans, RNA, Messenger, Eye Proteins, Aged, Aged, 80 and over, medicine.diagnostic_test, business.industry, Homozygote, Dystrophy, Diabetic retinopathy, Macular dystrophy, Middle Aged, medicine.disease, eye diseases, Pedigree, 030104 developmental biology, Phenotype, Mutation, 030221 ophthalmology & optometry, Female, Age of onset, medicine.symptom, business, Retinitis Pigmentosa, Tomography, Optical Coherence, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa3ba5ef4ca68e58b23531c318cb3312
https://pure.eur.nl/en/publications/644e1a18-ddf2-4177-9a9a-cccc41b99b6f

المؤلفون: Laurence H M Pierrache, Reinier O. Schlingemann, Jan Willem R. Pott, Clasien J. Oomen, Jan Roelof Polling, Michelle Hendriks, Hester Y. Kroes, Wendy A. G. van Zelst-Stams, Albert Hofman, Frans P.M. Cremers, Mary J. van Schooneveld, Redmer van Leeuwen, Ramon A. C. van Huet, F. Nienke Boonstra, Mies M. van Genderen, Caroline C W Klaver, Carel B. Hoyng, Maarten Kamermans, Camiel J. F. Boon, Magda A. Meester-Smoor, L. Ingeborgh van den Born, Nathalie M. Bax, Stanley Lambertus, Virginie J. M. Verhoeven, Yvonne de Jong-Hesse, Arthur A.B. Bergen, J Schuil, Astrid S. Plomp, Gabriëlle H.S. Buitendijk, B Jeroen Klevering

المساهمون: Erasmus MC other, Epidemiology, Ophthalmology, Netherlands Institute for Neuroscience (NIN), Biomedical Engineering and Physics, ANS - Cellular & Molecular Mechanisms, Human Genetics, ACS - Amsterdam Cardiovascular Sciences, ARD - Amsterdam Reproduction and Development, ACS - Atherosclerosis & ischemic syndromes

المصدر: American Journal of Ophthalmology, 182, 81-89. Elsevier Inc.
Hendriks, M, Verhoeven, V J M, Buitendijk, G H S, Polling, J R, Meester-Smoor, M A, Hofman, A, Kamermans, M, Ingeborgh van den Born, L, Klaver, C C W & RD5000 Consortium 2017, ' Development of Refractive Errors—What Can We Learn From Inherited Retinal Dystrophies? ', American Journal of Ophthalmology, vol. 182, pp. 81-89 . https://doi.org/10.1016/j.ajo.2017.07.008
American Journal of Ophthalmology, 182, 81-89
American Journal of Ophthalmology, 182, 81-89. Elsevier USA
American Journal of Ophthalmology, 182, pp. 81-89
American Journal of Ophthalmology, 182, 81. Elsevier USA
American Journal of Ophthalmology
American journal of ophthalmology, 182, 81-89. Elsevier USA

مصطلحات موضوعية: 0301 basic medicine, Male, Refractive error, genetic structures, DNA Mutational Analysis, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], chemistry.chemical_compound, 0302 clinical medicine, Risk Factors, Myopia, Medicine, Dioptre, education.field_of_study, Eye Diseases, Hereditary, Middle Aged, 3. Good health, medicine.anatomical_structure, Hyperopia, Population study, Female, Retinal Dystrophies, Adult, medicine.medical_specialty, Retinal Bipolar Cells, Calcium Channels, L-Type, Population, 03 medical and health sciences, Ophthalmology, Journal Article, Humans, Retinal Photoreceptor Cell Inner Segment, education, Eye Proteins, Retinal pigment epithelium, business.industry, Calcium-Binding Proteins, Retinal, Odds ratio, medicine.disease, Retinal Photoreceptor Cell Outer Segment, eye diseases, 030104 developmental biology, chemistry, Case-Control Studies, Mutation, Synapses, 030221 ophthalmology & optometry, sense organs, business

وصف الملف: image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcea991019b6ecc07882ea584a3c484a
https://doi.org/10.1016/j.ajo.2017.07.008

المؤلفون: Mariet W. Elting, Thatjana Gardeitchik, Esther Sikkel, Nicole Corsten-Janssen, Brigitte H. W. Faas, Merel C. van Maarle, Klaske D. Lichtenbelt, Servi J. C. Stevens, Kornelia Neveling, Lisenka E.L.M. Vissers, Helger G. Yntema, Suzanne C E H Sallevelt, Marcel R. Nelen, Christian Gilissen, Nicole de Leeuw, Guus Lachmeijer, Dimitra Zafeiropopoulou, Aimee D C Paulussen, Chantal Deden, Rolph Pfundt, Ilse Feenstra, Karin E. M. Diderich, Wendy A. G. van Zelst-Stams, Tuula Rinne

المساهمون: Human Genetics, Clinical Genetics, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9)

المصدر: Prenatal Diagnosis, 40, 972-983
Prenatal diagnosis, 40(8), 972-983. John Wiley and Sons Ltd
Prenatal Diagnosis
Prenatal Diagnosis, 40(8), 972-983. John Wiley & Sons Ltd.
Prenatal Diagnosis, 40(8), 972-983. Wiley-Blackwell
Prenatal Diagnosis, 40, 8, pp. 972-983
Prenatal Diagnosis, 40(8), 972-983. Wiley

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Decision Making, INFANTS, Prenatal diagnosis, 030105 genetics & heredity, DIAGNOSIS, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Ultrasonography, Prenatal, Congenital Abnormalities, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Fetus, MICROARRAY, Clinical decision making, Pregnancy, Prenatal Diagnosis, Exome Sequencing, medicine, Humans, Abnormalities, Multiple, Genetic Testing, Genetics (clinical), Exome sequencing, UTILITY, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], 030219 obstetrics & reproductive medicine, ABNORMALITIES, Obstetrics, business.industry, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Obstetrics and Gynecology, Reproducibility of Results, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Original Articles, medicine.disease, 3. Good health, Dysplasia, Ultrasound imaging, Original Article, Female, business, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73ed61a70a946ff5cd09b44f4b2509b3
http://hdl.handle.net/2066/225140

المؤلفون: Carla Oliveira, Roland P. Kuiper, Hildegunn Høberg-Vetti, James R. Lupski, Encarna B. Gomez Garcia, Margreet G. E. M. Ausems, Christian Gilissen, Liesbeth Spruijt, Elke Holinski-Feder, C. Marleen Kets, Urszula Teodorczyk, Jelle J. Goeman, Rachel S. van der Post, Ad Geurts van Kessel, Anja Wagner, Alexander Hoischen, Anna Jakubowska, Wendy A. G. van Zelst-Stams, Rolf H. Sijmons, Cora M. Aalfs, Nicoline Hoogerbrugge, Maartje van de Vorst, Marjolijn J. L. Ligtenberg, Maurizio Genuardi, Shalini N. Jhangiani, Jan Lubinski, Lisenka E.L.M. Vissers, Frederik J. Hes, Inga Bjørnevoll, J. Han van Krieken, Hugo Pinheiro, Hans K. Schackert, Joep de Ligt, Ingrid P. Vogelaar, Guglielmina Nadia Ranzani, Donna M. Muzny, Liselotte P. van Hest, Richard A. Gibbs, Lizet E. van der Kolk, Valeria Molinaro

المساهمون: CCA - Cancer biology and immunology, Human genetics, Medical Genetics, Human Genetics, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, Clinical Genetics, Guided Treatment in Optimal Selected Cancer Patients (GUTS)

المصدر: European Journal of Human Genetics, 25, 11, pp. 1246-1252
European Journal of Human Genetics, 25(11), 1246. Nature Publishing Group
European Journal of Human Genetics, 25(11), 1246-1252. Nature Publishing Group
European journal of human genetics, 25(11), 1246-1252. Nature Publishing Group
European Journal of Human Genetics, 25, 1246-1252
European Journal of Human Genetics
Vogelaar, I P, Van Der Post, R S, Van Krieken, J H J M, Spruijt, L, Van Zelst-Stams, W A G, Kets, C M, Lubinski, J, Jakubowska, A, Teodorczyk, U, Aalfs, C M, Van Hest, L P, Pinheiro, H, Oliveira, C, Jhangiani, S N, Muzny, D M, Gibbs, R A, Lupski, J R, De Ligt, J, Vissers, L E L M, Hoischen, A, Gilissen, C, Van De Vorst, M, Goeman, J J, Schackert, H K, Ranzani, G N, Molinaro, V, García, E B G, Hes, F J, Holinski-Feder, E, Genuardi, M, Ausems, M G E M, Sijmons, R H, Wagner, A, Van Der Kolk, L E, Bjørnevoll, I, Høberg-Vetti, H, Van Kessel, A G, Kuiper, R P, Ligtenberg, M J L & Hoogerbrugge, N 2017, ' Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing ', European Journal of Human Genetics, vol. 25, no. 11, pp. 1246-1252 . https://doi.org/10.1038/ejhg.2017.138
European Journal of Human Genetics, 25(11), 1246-1252

مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], VARIANTS, Gene mutation, Bioinformatics, Germline, COLORECTAL-CANCER, 0302 clinical medicine, CDH1 MUTATIONS, Stomach Neoplasms/diagnosis, HISTORY, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Genetics(clinical), Exome, Early Detection of Cancer, DIFFUSE, Genetics (clinical), Exome sequencing, RISK, Genetics, Medicine(all), Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Middle Aged, Cadherins, 3. Good health, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], Sequence Analysis, DNA/methods, 030220 oncology & carcinogenesis, Female, Genetic Testing/methods, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, MUTATION CARRIERS, Biology, Article, CLASSIFICATION, 03 medical and health sciences, Germline mutation, SDG 3 - Good Health and Well-being, Stomach Neoplasms, HELICOBACTER-PYLORI, Antigens, CD, RESOURCE, Molecular genetics, Genetic predisposition, medicine, Journal Article, Humans, Genetic Predisposition to Disease, Genetic Testing, Germ-Line Mutation, Aged, Settore MED/06 - ONCOLOGIA MEDICA, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], gastric cancer, Cadherins/genetics, Sequence Analysis, DNA, 030104 developmental biology, Early Detection of Cancer/methods, exome

وصف الملف: application/pdf; image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8924302c8b22121fd84e066e6595ac39
https://doi.org/10.1038/ejhg.2017.138

المؤلفون: Jayne Y. Hehir-Kwa, Njood Alenezi, Stefan H. Lelieveld, Badr Alsaleem, Arjen R. Mensenkamp, Marcel van Deuren, Christian Gilissen, Mofareh AlZahrani, Murad K. Habazi, Eman AlIdrissi, Mihai G. Netea, Alaa B. Alsaad, Pieter van Paassen, Wendy A. G. van Zelst-Stams, Hadeel A. AlJubab, Maartje van de Vorst, Sarah Hortillosa, Joris A. Veltman, Abdulrahman Al-Hussaini, Stefanie S. V. Henriet, Anja Wagner, Hamza A. AlGhamdi, Fahad AlManjomi, Maaike Vreeburg, Annet Simons, Walid Ballourah, Esther P A H Hoppenreijs, Chantal P. Bleeker-Rovers, Jukka S. Moilanen, M.A. MacKenzie, Dimitra Zafeiropoulou, Abdulrahman A. Andijani, Michiel van der Flier, Peer Arts, Judith Potjewijd, Eissa Faqeih, Koen J. van Aerde, Gijs Th. J. van Well, Frank L. van de Veerdonk, Erica H. Gerkes, Anna Simon, Tomasz Stokowy, Evelien Zonneveld-Huijssoon, Ali Asery, Khurram Lone, Chantal Kerkhofs, Janneke H M Schuurs-Hoeijmakers, Marcel R. Nelen, Riikka Keski-Filppula, Jaap ten Oever, Alexander Hoischen, Elanur Yilmaz

المساهمون: Arts, Peer, Simons, Annet, Alzahrani, Mofareh S, Yilmaz, Elanur, Hoischen, Alexander, MUMC+: DA KG Polikliniek (9), MUMC+: MA Nefrologie (9), RS: Carim - B02 Vascular aspects thrombosis and Haemostasis, Interne Geneeskunde, MUMC+: MA Klinische Immunologie (9), RS: CARIM - R1.02 - Vascular aspects thrombosis and haemostasis, Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), MUMC+: MA Arts Assistenten Kindergeneeskunde (9), RS: NUTRIM - R1 - Obesity, diabetes and cardiovascular health, Clinical Genetics

المصدر: Genome Medicine, 11, 1
Genome Medicine
Genome medicine, 11:38. BMC
Genome Medicine, 11:38, 1-15. BioMed Central Ltd
Genome Medicine, 11:38. BioMed Central Ltd.
Genome Medicine, 11
Genome Medicine, Vol 11, Iss 1, Pp 1-15 (2019)

مصطلحات موضوعية: Male, Exome sequencing, 0301 basic medicine, Primary immunodeficiencies, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], lcsh:Medicine, CHILDREN, Disease, VARIANTS, Bioinformatics, DISEASE, Cancer development and immune defence Radboud Institute for Health Sciences [Radboudumc 2], 0302 clinical medicine, Medicine, Medical diagnosis, Genetics (clinical), Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Middle Aged, routine diagnostics, 3. Good health, DEFICIENCY, Child, Preschool, Genetic diagnosis, 030220 oncology & carcinogenesis, Routine diagnostics, Molecular Medicine, Female, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5], primary immunodeficiencies, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, lcsh:QH426-470, Adolescent, GAIN-OF-FUNCTION, CENTROMERIC INSTABILITY, Primary Immunodeficiency Diseases, In silico, Context (language use), Sensitivity and Specificity, genetic diagnosis, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Genetics, Humans, Genetic Testing, Molecular Biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MUTATIONS, business.industry, Research, lcsh:R, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Infant, STEM-CELL TRANSPLANTATION, Human genetics, lcsh:Genetics, 030104 developmental biology, lnfectious Diseases and Global Health Radboud Institute for Health Sciences [Radboudumc 4], HEMATOPOIETIC STEM, Clinical diagnosis, AUTOSOMAL-DOMINANT, business, exome sequencing

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e04ce74acbb094de4102667590f55cd7
https://hdl.handle.net/2066/204759

المؤلفون: Judith B. Prins, Arjen R. Mensenkamp, Han G. Brunner, Liesbeth Spruijt, Wendy A. G. van Zelst-Stams, Aisha S. Sie, Marjolijn J. L. Ligtenberg, Nicoline Hoogerbrugge

المصدر: Journal of Genetic Counseling, 25, 3, pp. 504-14
Journal of Genetic Counseling, 25, 504-14
Journal of Genetic Counseling

مصطلحات موضوعية: Counseling, Adult, 0301 basic medicine, medicine.medical_specialty, Referral, Genetic counseling, BRCA, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, Genetic Counseling, 030105 genetics & heredity, Young Adult, 03 medical and health sciences, Breast cancer, 0302 clinical medicine, Patient satisfaction, Genetic, Surveys and Questionnaires, Internal medicine, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], medicine, Humans, Genetics(clinical), Genetic Testing, Prospective cohort study, Genetics (clinical), Original Research, Aged, Genetic testing, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], medicine.diagnostic_test, business.industry, BRCA mutation, DNA, Middle Aged, medicine.disease, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], Distress, Hereditary, Patient Satisfaction, 030220 oncology & carcinogenesis, Mutation, Female, business, Social psychology, Stress, Psychological, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d244afd489903a34af17154e7ef8eae
https://doi.org/10.1007/s10897-015-9899-4

المؤلفون: Gesina van Lijnschoten, H. Jorn Bovenschen, Wendy A. G. van Zelst-Stams, Marjolijn J. L. Ligtenberg, Arjen R. Mensenkamp, Katrin Rabold, Willeke A. M. Blokx, Patricia J. T. A. Groenen

المصدر: Virchows Archiv, 466, 117-21
Virchows Archiv, 466, 1, pp. 117-21

مصطلحات موضوعية: Adult, Male, Proto-Oncogene Proteins B-raf, Neuroblastoma RAS viral oncogene homolog, Pathology, medicine.medical_specialty, Skin Neoplasms, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], Dermatologic Surgical Procedures, Context (language use), Rare cancers Radboud Institute for Molecular Life Sciences [Radboudumc 9], Biology, GTP Phosphohydrolases, Pathology and Forensic Medicine, Cancer syndrome, Germline mutation, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Biomarkers, Tumor, medicine, Humans, Nevus, Molecular Biology, Skin, Nevus, Pigmented, BAP1, Tumor Suppressor Proteins, Membrane Proteins, Cell Biology, General Medicine, medicine.disease, Gene Expression Regulation, Neoplastic, Mutation, Mutation (genetic algorithm), Mutation testing, Cancer research, Nevus, Intradermal, Ubiquitin Thiolesterase, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::602372b613bed53650e4804efa19a78c
https://doi.org/10.1007/s00428-014-1674-7

المؤلفون: Wendy A. G. van Zelst-Stams, Carlo Rivolta, Maria Isabel Lopez-Molina, Marta Corton, Raquel Perez-Carro, Carlos Vazquez, Esther Martín-Garrido, B. Jeroen Klevering, Javier del Val, Ramon A. C. van Huet, Silvio Alessandro Di Gioia, Bart P.C. van de Warrenburg, Carel B. Hoyng, Blanca Garcia-Sandoval, Rob W.J. Collin, Koji M. Nishiguchi, Pedro J. García-Ruiz, Fiona Blanco-Kelly, Carmen Ayuso, Frans P.M. Cremers, Lies H. Hoefsloot, Almudena Avila-Fernandez

المصدر: Ophthalmology. 121:1620-1627

مصطلحات موضوعية: Retinal degeneration, Genetics, 0303 health sciences, Ataxia, genetic structures, Cerebellar ataxia, Hearing loss, business.industry, Compound heterozygosity, medicine.disease, eye diseases, 3. Good health, 03 medical and health sciences, Ophthalmology, 0302 clinical medicine, Retinitis pigmentosa, medicine, Sensorineural hearing loss, medicine.symptom, business, 030217 neurology & neurosurgery, Exome sequencing, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6a4aac6bcaa8ba2482eb0c1e35b04c9b
https://doi.org/10.1016/j.ophtha.2014.02.008

المؤلفون: Megan P. Hitchins, Arjen R. Mensenkamp, Wendy McKinnon, Marc S. Greenblatt, Robert W. Rapkins, James M. Ford, Robyn L. Ward, Uri Ladabaum, Nicolette M. Chun, Ingrid P. Vogelaar, Marjolijn J. L. Ligtenberg, Chau-To Kwok, Wendy A. G. van Zelst-Stams

المصدر: European Journal of Human Genetics, 22, 5, pp. 617-24
European Journal of Human Genetics, 22, 617-24

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, Transcription, Genetic, DNA Mutational Analysis, Biology, MLH1, DNA Mismatch Repair, Polymorphism, Single Nucleotide, White People, Article, Epigenesis, Genetic, Germline mutation, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Genetics, medicine, PMS2, Humans, Point Mutation, Allele, Promoter Regions, Genetic, neoplasms, Alleles, Genetics (clinical), Adaptor Proteins, Signal Transducing, Genes, Dominant, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], Haplotype, Nuclear Proteins, nutritional and metabolic diseases, DNA Methylation, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, Lynch syndrome, Pedigree, MSH6, Gene Expression Regulation, Haplotypes, MSH2, Case-Control Studies, Female, Chromosomes, Human, Pair 3, MutL Protein Homolog 1, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f1d4d26bf9150a5a3becb3e8786015a
https://doi.org/10.1038/ejhg.2013.200

المؤلفون: Wendy A. G. van Zelst-Stams, Nicoline Hoogerbrugge, Simone Salemink, Erica van der Looij, Nicky Dekker, Carolien M. Kets

المصدر: Journal of Genetic Counseling
Journal of Genetic Counseling, 22, 118-24
Journal of Genetic Counseling, 22, 1, pp. 118-24

مصطلحات موضوعية: Gerontology, Adult, Male, medicine.medical_specialty, Colorectal cancer, Genetic counseling, Hereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1], Genetic Counseling, Colorectal neoplasms, Young Adult, Surveys and Questionnaires, medicine, Humans, Genetics(clinical), Genetic Predisposition to Disease, Young adult, Family history, Genetics (clinical), Original Research, Aged, Response rate (survey), Health Services Needs and Demand, Hereditary cancer and cancer-related syndromes [ONCOL 1], business.industry, Public health, Cancer, Patient preferences, Middle Aged, medicine.disease, Human genetics, Family medicine, Female, business, Quality of hospital and integrated care [NCEBP 4]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b8619e0ce6df5746ec7cc7c0fa1ac79
https://hdl.handle.net/2066/118440

المؤلفون: Theodora C. van Tilborg, Theo A. M. van Os, Helena C. van Doorn, Anouk Pijpe, Muriel A. Adank, Matti A. Rookus, Wendy A. G. van Zelst-Stams, Senno Verhoef, Margreet G. E. M. Ausems, Christi J. van Asperen, Encarna B. Gomez Garcia, T.M. Mooij, Jan C. Oosterwijk, Anna M. E. Bos, Frank J.M. Broekmans, Lieske H. Schrijver

المساهمون: Human Genetics, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), Epidemiology and Data Science, Human genetics, CCA - Cancer biology, Obstetrics & Gynecology

المصدر: van Tilborg, T C, Broekmans, F J, Pijpe, A, Schrijver, L H, Mooij, T M, Oosterwijk, J C, Verhoef, S, Gómez Garcia, E B, van Zelst-Stams, W A, Adank, M A, van Asperen, C J, Van Doorn, H C, van Os, T A, Bos, A M, Rookus, M A & Ausems, M G 2016, ' Do BRCA1/2 mutation carriers have an earlier onset of natural menopause? ', Menopause, vol. 23, no. 8, pp. 903-10 . https://doi.org/10.1097/GME.0000000000000633
Menopause (New York, N.Y.), 23(8), 903-910. Lippincott Williams and Wilkins
Menopause-the Journal of the North American Menopause Society, 23(8), 903-910. LIPPINCOTT WILLIAMS & WILKINS
Menopause, 23(8), 903-10. Lippincott Williams and Wilkins
Menopause, 23(8), 903-910
Menopause. The Journal of the North American Menopause Society, 23(8), 903-910. Lippincott Williams & Wilkins
Menopause, 23(8), 903. Lippincott Williams and Wilkins
Menopause-The Journal of the North American Menopause Society, 23, 903-10
Menopause-The Journal of the North American Menopause Society, 23, 8, pp. 903-10

مصطلحات موضوعية: Aging, Genes, BRCA2, Genes, BRCA1, Kaplan-Meier Estimate, Ovarian aging, 0302 clinical medicine, Premature Menopause, Aged, 80 and over, RISK, 030219 obstetrics & reproductive medicine, Obstetrics, Applied Mathematics, Hazard ratio, Age Factors, Obstetrics and Gynecology, WOMEN, Middle Aged, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Cohort, DNA-REPAIR, Regression Analysis, Female, Menopause, Cohort study, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, Heterozygote, General Mathematics, Natural menopause, MENARCHE, 03 medical and health sciences, Surgical Menopause, Young Adult, AGE, medicine, Journal Article, Humans, BREAST-CANCER, COHORT, SALPINGO-OOPHORECTOMY, Aged, Proportional Hazards Models, Gynecology, business.industry, Proportional hazards model, BRCA mutation, PREMATURE MENOPAUSE, BRCA1/2 mutation, OVARIAN RESERVE, Cross-Sectional Studies, Mutation, business

وصف الملف: image/pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89d6ed6f58f2d1c0b9f98428e4dc78ef
https://research.vumc.nl/en/publications/119227c2-56e3-47a3-90c3-649f516843e7

المؤلفون: Ron J. T. van Golde, Wendy A. G. van Zelst-Stams, Theodora C. van Tilborg, Jan C. Oosterwijk, Anna M. E. Bos, Annemieke Hoek, Christine E. M. de Die-Smulders, Frank J. M. Broekmans, Margreet G. E. M. Ausems, Lizet E. van der Kolk, Marinus J.C. Eijkemans, I.A.P. Derks-Smeets, Maria E. Velthuizen, Joop S.E. Laven

المساهمون: Obstetrics & Gynecology, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), Reproductive Origins of Adult Health and Disease (ROAHD), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Promovendi ODB, Genetica & Celbiologie, Obstetrie & Gynaecologie, MUMC+: MA Medische Staf Obstetrie Gynaecologie (9), Klinische Genetica

المصدر: Human Reproduction, 31(11), 2651-2659. Oxford University Press
Human Reproduction, 31, 2651-2659
Human Reproduction, 31(11), 2651. Oxford University Press
Human Reproduction, 31, 11, pp. 2651-2659

مصطلحات موضوعية: Adult, ANTIMULLERIAN HORMONE, Heterozygote, medicine.medical_specialty, anti-Mullerian hormone, Cross-sectional study, Schering-Plough, ANTI-MLLERIAN HORMONE, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, AGE, FEMALE FERTILITY, medicine, Journal Article, Humans, BREAST-CANCER, NATURAL MENOPAUSE, Prospective Studies, Prospective cohort study, Ovarian reserve, genes, Gynecology, 030219 obstetrics & reproductive medicine, biology, BRCA1 Protein, Obstetrics, business.industry, Rehabilitation, BRCA mutation, Confounding, PREMATURE MENOPAUSE, Obstetrics and Gynecology, Anti-Müllerian hormone, medicine.disease, OVARIAN RESERVE, ovarian aging, Cross-Sectional Studies, Reproductive Medicine, 030220 oncology & carcinogenesis, BREAST/OVARIAN CANCER, biology.protein, DNA-REPAIR, Women's Health, Female, business, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf; image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a4484fa69b4c7db5ddb2bd1a1c74df0
https://pure.eur.nl/en/publications/5d45984e-687b-4a62-a0db-091f58463b66

المؤلفون: Joris A. Veltman, Alexander Hoischen, Frank J. M. van Kuppeveld, Martijn A. Huynen, Jos W. M. van der Meer, Peer Arts, Bart Jan Kullberg, Christian Gilissen, Martijn A. Langereis, Wendy A. G. van Zelst-Stams, Robin van der Lee, Frank L. van de Veerdonk, Mihai G. Netea

المساهمون: Arts, Peer, Van De Veerdonk, Frank L, van der Lee, Robin, Langereis, Martijn A, Gilissen, Christian, van Zelst-Stams, Wendy A G, Huynen, Martijn A, van der Meer, Jos W M, van Kuppeveld, Frank J, Veltman, Joris A, Kullberg, Bart Jan, Hoischen, Alexander, Netea, Mihai G, Genetica & Celbiologie, Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine

المصدر: Journal of Allergy and Clinical Immunology, 138, 895-8
Journal of Allergy and Clinical Immunology, 138, 3, pp. 895-8
Journal of Allergy and Clinical Immunology, 138(3), 895-898. MOSBY-ELSEVIER

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Immunology, Mucocutaneous zone, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], HSL and HSV, immune response, law.invention, 03 medical and health sciences, 0302 clinical medicine, Text mining, law, medicine, Immunology and Allergy, Interferon gamma, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], 030104 developmental biology, lnfectious Diseases and Global Health Radboud Institute for Health Sciences [Radboudumc 4], 030220 oncology & carcinogenesis, Recombinant DNA, business, herpes simplex virus 2, medicine.drug, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa1804c0c077379013e3970afc956fb0
http://hdl.handle.net/2066/167300

المؤلفون: Muriel A, Adank, Frederik J, Hes, Wendy A G, van Zelst-Stams, M Petrousjka, van den Tol, Caroline, Seynaeve, Jan C, Oosterwijk

المصدر: Nederlands tijdschrift voor geneeskunde. 159

مصطلحات موضوعية: Checkpoint Kinase 2, Genotype, Risk Factors, Mutation, Humans, Breast Neoplasms, Female, Genetic Predisposition to Disease, Genetic Testing, Prognosis, Mammography, Netherlands, Sequence Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::2a5833e34234668e0b4fff52ddf0683c
https://pubmed.ncbi.nlm.nih.gov/26332814