Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Christine de Die-Smulders"'
Autor:
Anouk E. J. Janssen, Rebekka M. Koeck, Rick Essers, Ping Cao, Wanwisa van Dijk, Marion Drüsedau, Jeroen Meekels, Burcu Yaldiz, Maartje van de Vorst, Bart de Koning, Debby M. E. I. Hellebrekers, Servi J. C. Stevens, Su Ming Sun, Malou Heijligers, Sonja A. de Munnik, Chris M. J. van Uum, Jelle Achten, Lars Hamers, Marjan Naghdi, Lisenka E. L. M. Vissers, Ron J. T. van Golde, Guido de Wert, Jos C. F. M. Dreesen, Christine de Die-Smulders, Edith Coonen, Han G. Brunner, Arthur van den Wijngaard, Aimee D. C. Paulussen, Masoud Zamani Esteki
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract High-throughput sequencing technologies have increasingly led to discovery of disease-causing genetic variants, primarily in postnatal multi-cell DNA samples. However, applying these technologies to preimplantation genetic testing (PGT) in n
Externí odkaz:
https://doaj.org/article/27a339f2ae754c6ab22930007a45ad79
Autor:
Yil Severijns, Hein de Vries, Gita Tan-Sindhunata, Kyra Stuurman, Cecile Ottenheim, Klaske Lichtenbelt, Sander van Kuijk, Sara Joosten, Elisa J. F. Houwink, Rik Crutzen, Nicole Corsten-Janssen, Emilia Bijlsma, Christine de Die-Smulders, Liesbeth van Osch
Publikováno v:
Health Psychology Bulletin; Vol 7 (2023); 17–26
Introduction: Couples at high risk of transmitting a genetic disease to their offspring have several reproductive options. As decision making is often experienced as difficult, there is a need for a decision aid (DA), to assist couples in their repro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cee5936365139e4f3cc1243b6606ee0
https://doi.org/10.5334/hpb.39
https://doi.org/10.5334/hpb.39
Autor:
Sanne van der Hout, Anke Woudstra, Wybo Dondorp, Suzanne Sallevelt, Christine de Die-Smulders, Aimee Paulussen, Guido de Wert
Expanded carrier screening (ECS) entails a screening offer for multiple recessive disorders at the same time, and allows testing of individuals or couples regardless of ancestry or geographic origin. Children ofconsanguineous couples have a higher-th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b23681bf2b6321e484a024e44ce6711b
https://doi.org/10.21203/rs.3.rs-2405794/v1
https://doi.org/10.21203/rs.3.rs-2405794/v1
Publikováno v:
Textbook of Human Reproductive Genetics ISBN: 9781009197700
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ea44f8f49ed550cc75bd5d5439be7e1b
https://doi.org/10.1017/9781009197700.011
https://doi.org/10.1017/9781009197700.011
Diagnosing Juvenile Huntington’s Disease: An Explorative Study among Caregivers of Affected Children
Publikováno v:
Brain Sciences, Vol 10, Iss 3, p 155 (2020)
Objective: To investigate the reasons for the diagnostic delay of juvenile Huntington’s disease patients in the Netherlands. Methods: This study uses interpretative phenomenological analysis. Eligible participants were parents and caregivers of juv
Externí odkaz:
https://doaj.org/article/1986f40ef8f748c58d848ab0abd0f3c2
Autor:
Wanwisa van Dijk, Kasper Derks, Marion Drüsedau, Jeroen Meekels, Rebekka Koeck, Rick Essers, Joseph Dreesen, Edith Coonen, Christine de Die-Smulders, Servi J C Stevens, Han G Brunner, Arthur van den Wijngaard, Aimée D C Paulussen, Masoud Zamani Esteki
Publikováno v:
Human Reproduction, 37(11), 2700-2708. Oxford University Press
STUDY QUESTION Can the embryo tracking system (ETS) increase safety, efficacy and scalability of massively parallel sequencing-based preimplantation genetic testing (PGT)? SUMMARY ANSWER Applying ETS-PGT, the chance of sample switching is decreased,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19ab9b62cf03c940cf14ce03cb225e7f
https://cris.maastrichtuniversity.nl/en/publications/7a1a69e9-9ff6-4652-befe-52a0e3a9a5ee
https://cris.maastrichtuniversity.nl/en/publications/7a1a69e9-9ff6-4652-befe-52a0e3a9a5ee
Publikováno v:
Handbook of Genetic Diagnostic Technologies in Reproductive Medicine ISBN: 9781003024941
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ec94f4fa881198083766e71397d7489d
https://doi.org/10.1201/9781003024941-31
https://doi.org/10.1201/9781003024941-31
Publikováno v:
European Journal of Medical Genetics, 62(12):103604. Elsevier
European journal of medical genetics
European journal of medical genetics
OBJECTIVE: Comprehensive chromosome examination is a promising approach to Preimplantation Genetic Testing (PGT). Next to testing of specific chromosomes, such as in the case of reduced fertility due to chromosomal translocations, it allows testing o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0483dbb4527089ccd00f496d0eddc5b
https://doi.org/10.1016/j.ejmg.2018.12.009
https://doi.org/10.1016/j.ejmg.2018.12.009
Autor:
Jos C. F. M. Dreesen, Edith Coonen, Joep P.M. Geraedts, Christine de Die – Smulders, Aimee D C Paulussen
Publikováno v:
Medizinische Genetik, 28(3). Springer Verlag
Zusammenfassung Im Jahr 1995 wurde die Präimplantationsdiagnostik (PID) auf experimenteller Ebene in Maastricht eingeführt. Seit 2003 ist sie Bestandteil des Erstattungssystems des niederländischen Ministry Public Health, Welfare and Sport. PID wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d86eeddeb2a191fd50fb00ce1d51dd4
https://cris.maastrichtuniversity.nl/en/publications/6313e253-83d6-4b84-9417-ad8cc930fac9
https://cris.maastrichtuniversity.nl/en/publications/6313e253-83d6-4b84-9417-ad8cc930fac9