Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Vyne, van der Schoot"'
Publikováno v:
Journal of Genetic Counseling, 32, 2, pp. 387-396
Journal of Genetic Counseling, 32, 387-396
Journal of Genetic Counseling, 32(2), 387-396. Human Sciences Press/Kluwer Academic
Journal of Genetic Counseling, 32(2), 387-396. Wiley
Journal of Genetic Counseling, 32, 387-396
Journal of Genetic Counseling, 32(2), 387-396. Human Sciences Press/Kluwer Academic
Journal of Genetic Counseling, 32(2), 387-396. Wiley
Contains fulltext : 291776.pdf (Publisher’s version ) (Open Access) Unsolicited findings (UFs) from diagnostic genetic testing are a subject of debate. The emerging consensus is that some UFs from genetic testing should be disclosed, but recommenda
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ffaf2795a671895b1aa211fab962cd7
https://doi.org/10.1002/jgc4.1647
https://doi.org/10.1002/jgc4.1647
Autor:
Karin EM Diderich, Jasmijn E Klapwijk, Vyne van der Schoot, Hennie T Brüggenwirth, Marieke Joosten, Malgorzata I Srebniak
Publikováno v:
Application of Clinical Genetics, 16, 89-97. Dove Medical Press Ltd.
Diderich, K E M, Klapwijk, J E, van der Schoot, V, Brüggenwirth, H T, Joosten, M & Srebniak, M I 2023, ' Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing ', Application of Clinical Genetics, vol. 16, pp. 89-97 . https://doi.org/10.2147/TACG.S411185
Diderich, K E M, Klapwijk, J E, van der Schoot, V, Brüggenwirth, H T, Joosten, M & Srebniak, M I 2023, ' Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing ', Application of Clinical Genetics, vol. 16, pp. 89-97 . https://doi.org/10.2147/TACG.S411185
Karin EM Diderich, Jasmijn E Klapwijk, Vyne van der Schoot, Hennie T Brüggenwirth, Marieke Joosten, Malgorzata I Srebniak Department of Clinical Genetics, Erasmus MC, Rotterdam, the NetherlandsCorrespondence: Karin EM Diderich, Department of Clini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b502c0b657e9ec63ddb24277ef76ef1
https://pure.eur.nl/en/publications/98cb4be3-582a-4608-b9da-8e591fa1f537
https://pure.eur.nl/en/publications/98cb4be3-582a-4608-b9da-8e591fa1f537
Autor:
Vyne van der Schoot
Unsolicited findings in genetic testing are disease causing variants which are unintentionally found. This study showed that a predisposition for a treatable condition can be demonstrated in 2.7% of healthy individuals, while a predisposition was fou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c50270857bee451d00bfdd987bf54cc7
https://cris.maastrichtuniversity.nl/en/publications/aff1d5f4-1e67-4e00-824a-44cc237234bc
https://cris.maastrichtuniversity.nl/en/publications/aff1d5f4-1e67-4e00-824a-44cc237234bc
Autor:
Helger G. Yntema, Femke Tammer, Yvonne Arens, Han G. Brunner, Simone J. Viellevoije, Anke J M Oerlemans, Vyne van der Schoot
Publikováno v:
European Journal of Human Genetics, 29, 6, pp. 930-939
Eur J Hum Genet
European Journal of Human Genetics, 29(6), 930-939. Nature Publishing Group
European Journal of Human Genetics, 29, 930-939
Eur J Hum Genet
European Journal of Human Genetics, 29(6), 930-939. Nature Publishing Group
European Journal of Human Genetics, 29, 930-939
Contains fulltext : 235073.pdf (Publisher’s version ) (Open Access) Unsolicited findings (UFs) in clinical exome sequencing are variants that are unrelated to the initial clinical question the DNA test was performed for, but that may nonetheless be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc410d9a9ef46bcf0d5aa75f043933f3
https://cris.maastrichtuniversity.nl/en/publications/6de60f2e-b16c-4d24-be2e-c9912b2e2665
https://cris.maastrichtuniversity.nl/en/publications/6de60f2e-b16c-4d24-be2e-c9912b2e2665
Autor:
Caspar I. van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, Guus van den Heuvel, Tuomo Mantere, Simone Kersten, Rosanne C. van Deuren, Marloes Steehouwer, Simon V. van Reijmersdal, Martin Jaeger, Tom Hofste, Galuh Astuti, Jordi Corominas Galbany, Vyne van der Schoot, Hans van der Hoeven, Wanda Hagmolen of ten Have, Eva Klijn, Catrien van den Meer, Jeroen Fiddelaers, Quirijn de Mast, Chantal P. Bleeker-Rovers, Leo A. B. Joosten, Helger G. Yntema, Christian Gilissen, Marcel Nelen, Jos W. M. van der Meer, Han G. Brunner, Mihai G. Netea, Frank L. van de Veerdonk, Alexander Hoischen
Publikováno v:
Jama : Journal of the American Medical Association, 324, 7, pp. 663-673
Jama : Journal of the American Medical Association, 324, 663-673
JAMA-Journal of the American Medical Association, 324(7), 663-673. American Medical Association
JAMA
Jama : Journal of the American Medical Association, 324, 663-673
JAMA-Journal of the American Medical Association, 324(7), 663-673. American Medical Association
JAMA
Severe coronavirus disease 2019 (COVID-19) can occur in younger, predominantly male, patients without preexisting medical conditions. Some individuals may have primary immunodeficiencies that predispose to severe infections caused by severe acute res
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::200155b69006dec2e09eb1bfe979005f
https://hdl.handle.net/2066/222168
https://hdl.handle.net/2066/222168
Autor:
Annechien E G Haarman, Alberta A H J Thiadens, Marianne van Tienhoven, Sjoukje E Loudon, J E M M Annelies de Klein, Erwin Brosens, Jan Roelof Polling, Vyne van der Schoot, Arjan Bouman, Anneke J A Kievit, Lies H Hoefsloot, Caroline C W Klaver, Virginie J M Verhoeven
Publikováno v:
Human Molecular Genetics, 31(19), 3290-3298. Oxford University Press
Human Molecular Genetics, 31, 3290-3298
Human Molecular Genetics, 31, 19, pp. 3290-3298
Human Molecular Genetics, 31, 3290-3298
Human Molecular Genetics, 31, 19, pp. 3290-3298
Contains fulltext : 282474.pdf (Publisher’s version ) (Open Access) High myopia [refractive error ≤ -6 diopters (D)] is a heterogeneous condition, and without clear accompanying features, it can be difficult to pinpoint a genetic cause. This obse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8560ccb73d65e404fa30727894fb5e89
https://doi.org/10.1093/hmg/ddac113
https://doi.org/10.1093/hmg/ddac113
Autor:
Vyne, van der Schoot, Lonneke, Haer-Wigman, Ilse, Feenstra, Femke, Tammer, Anke J M, Oerlemans, Martine P A, van Koolwijk, Frans, van Agt, Yvonne H J M, Arens, Han G, Brunner, Lisenka E L M, Vissers, Helger G, Yntema
Publikováno v:
European journal of human genetics : EJHG. 30(2)
Unsolicited findings (UFs) are uncovered unintentionally and predispose to a disease unrelated to the clinical question. The frequency and nature of UFs uncovered in clinical practice remain largely unexplored. We here evaluated UFs identified during
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1cbd72357922ca8f0eb0b9df2187127c
https://pubmed.ncbi.nlm.nih.gov/34697415
https://pubmed.ncbi.nlm.nih.gov/34697415
Autor:
Aimee D C Paulussen, Christine E. M. de Die-Smulders, N. D. Muntjewerff, Frank J.M. Broekmans, Marieke van Deursen-Luijten, John J.M. Engelen, Yvonne Arens, Jos Dreesen, M. Meijer-Hoogeveen, Aafke P.A. van Montfoort, Malou Heijligers, Edith Coonen, Mark A. H. B. M. van der Hoeven, Katelijne Bouman, Ron J. T. van Golde, I. Homminga, Andrea Peeters, Vyne van der Schoot
Publikováno v:
Journal of Assisted Reproduction and Genetics, 35(11), 1995-2002. Springer
Journal of Assisted Reproduction and Genetics
Journal of Assisted Reproduction and Genetics, 35(11), 1995-2002. SPRINGER/PLENUM PUBLISHERS
Journal of Assisted Reproduction and Genetics
Journal of Assisted Reproduction and Genetics, 35(11), 1995-2002. SPRINGER/PLENUM PUBLISHERS
Purpose We aim to evaluate the safety of PGD. We focus on the congenital malformation rate and additionally report on adverse perinatal outcome. Methods We collated data from a large group of singletons and multiples born after PGD between 1995 and 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::956cfd64a30574159d35b8d8948b4e64
https://doi.org/10.1007/s10815-018-1286-2
https://doi.org/10.1007/s10815-018-1286-2
Autor:
Grazia M.S. Mancini, Sonja A. de Munnik, Britt-Marie Anderlid, Han G. Brunner, Servi J. C. Stevens, Vyne van der Schoot, Mariet W. Elting, Conny M. A. Ravenswaaij-Arts, Hanka Venselaar
Publikováno v:
Molecular genetics & genomic medicine, 6(3), 393-400. Wiley
Molecular genetics & genomic medicine, 6(3), 393-400. John Wiley & Sons Inc.
Molecular Genetics & Genomic Medicine, 6, 3, pp. 393-400
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, 6, 393-400
Molecular genetics & genomic medicine, 6(3), 393-400. John Wiley & Sons Inc.
Molecular Genetics & Genomic Medicine, 6, 3, pp. 393-400
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, 6, 393-400
BackgroundPatients with pathogenic variants in ZBTB18 present with Intellectual Disability (ID) with frequent co-occurrence of corpus callosum (CC) anomalies, hypotonia, microcephaly, growth problems and variable facial dysmorphologies. These feature
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bac437a371bab3a9fbfac831db6ac103
https://doi.org/10.1002/mgg3.387
https://doi.org/10.1002/mgg3.387
Autor:
Anneke T. Vulto-van Silfhout, Ilse Feenstra, Han G. Brunner, Vyne van der Schoot, Helger G. Yntema, Lisenka E.L.M. Vissers, Lonneke Haer-Wigman, Christian Gilissen
Publikováno v:
European Journal of Human Genetics, 27(2), 325-330. Nature Publishing Group
European Journal of Human Genetics, 27, 325-330
European Journal of Human Genetics, 27, 2, pp. 325-330
European Journal of Human Genetics, 27, 325-330
European Journal of Human Genetics, 27, 2, pp. 325-330
Clinical genomic sequencing can identify pathogenic variants unrelated to the initial clinical question, but of medical relevance to the patients and their families. With ongoing discussions on the utility of disclosing or searching for such variants
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6409106f4a3355f6c9c490f607135234
https://cris.maastrichtuniversity.nl/en/publications/5acce5e4-f1eb-4ee9-87b5-f1872566ab95
https://cris.maastrichtuniversity.nl/en/publications/5acce5e4-f1eb-4ee9-87b5-f1872566ab95