Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Edith Coonen"'
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:
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
Autor:
V. van der Schoot, Aimee D C Paulussen, G. de Wert, Edith Coonen, C. E. M. De Die-Smulders, Joseph C F M Dreesen, Wybo Dondorp
Publikováno v:
Human Reproduction, 34(6), 1146-1154. Oxford University Press
STUDY QUESTION Which clinical and ethical aspects of preimplantation genetic testing for monogenic disorders or structural rearrangements (PGT-M, PGT-SR) should be considered when accepting requests and counselling couples for PGT when applied for mo
Autor:
Gaby Schobers, Arthur van den Wijngaard, Guido de Wert, Han G. Brunner, Merryn V. E. Macville, Servi J. C. Stevens, Dominique Pellaers, Masoud Zamani Esteki, Christine E. M. de Die-Smulders, Aimee D C Paulussen, Rebekka Koeck, Edith Coonen
Publikováno v:
Human Reproduction, 36, 11, pp. 2824-2839
Human Reproduction, 36, 2824-2839
Human Reproduction (Oxford, England)
Human Reprouction
Human Reproduction, 36, 2824-2839
Human Reproduction (Oxford, England)
Human Reprouction
Contains fulltext : 244031.pdf (Publisher’s version ) (Open Access) Liquid biopsy is the process of sampling and analyzing body fluids, which enables non-invasive monitoring of complex biological systems in vivo. Liquid biopsy has myriad applicatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b6caff1ae47c402d917e5aafdf3eab5
https://doi.org/10.1093/humrep/deab206
https://doi.org/10.1093/humrep/deab206
Autor:
G Kokkali, M. De Rycke, A.P.A. Van Montfoort, Filipa Carvalho, V. Goossens, Céline Moutou, Carolina Rubio, Edith Coonen
Publikováno v:
Human Reproduction Open
Human reproduction open, 2020(4):hoaa043. Oxford University Press
Human reproduction open, 2020(4):hoaa043. Oxford University Press
STUDY QUESTION What are the trends and developments in preimplantation genetic testing (PGT) in 2013–2015 as compared to previous years? SUMMARY ANSWER The main trends observed in the retrospective data collections 2013–2015, representing valuabl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54f6858da4aba3d6e04e1112588290c0
https://hdl.handle.net/20.500.14017/c8bfb0fe-4d2e-4ef9-ab32-df831abeb10d
https://hdl.handle.net/20.500.14017/c8bfb0fe-4d2e-4ef9-ab32-df831abeb10d
Autor:
Georgia Kokkali, M. Meijer-Hoogeveen, Nathalie Vermeulen, Martine De Rycke, Filipa Carvalho, Céline Moutou, Veerle Goossens, Edith Coonen, Carmen Rubio
Publikováno v:
Human reproduction open, 2020(3):hoaa021. Oxford University Press
Human Reproduction Open
Human Reproduction Open
The field of preimplantation genetic testing (PGT) is evolving fast, and best practice advice is essential for regulation and standardisation of diagnostic testing. The previous ESHRE guidelines on best practice for preimplantation genetic diagnosis,
Autor:
Nathalie Vermeulen, Francesca Spinella, Eftychia Dimitriadou, J. V. Gontar, Maria Maurer, Eshre Pgt-Sr, Carmen Rubio, Dimitra Christopikou, Edith Coonen, Veerle Goossens, Martine De Rycke
Publikováno v:
Human reproduction open, 2020(3):hoaa017. Oxford University Press
Human Reproduction Open
Human Reproduction Open
The field of preimplantation genetic testing (PGT) is evolving fast, and best practice advice is essential for regulation and standardisation of diagnostic testing. The previous ESHRE guidelines on best practice for PGD, published in 2005 and 2011, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::158c9c3e6d26ffb9b1af9b9cd9b50e67
https://doi.org/10.1093/hropen/hoaa017
https://doi.org/10.1093/hropen/hoaa017
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
Autor:
Joseph C F M Dreesen, Hubert J.M. Smeets, Christine E. M. de Die-Smulders, Suzanne C E H Sallevelt, Edith Coonen, Debby M.E.I. Hellebrekers, Aimee D C Paulussen, Patrick J. Lindsey
Publikováno v:
Journal of Medical Genetics, 54(10), 693-697. BMJ Publishing Group
Background Preimplantation genetic diagnosis (PGD) is a reproductive strategy for mitochondrial DNA (mtDNA) mutation carriers, strongly reducing their risk of affected offspring. Embryos either without the mutation or with mutation load below the phe
Autor:
Christine E. M. de Die-Smulders, Joseph C F M Dreesen, Maria Cristina Magli, Joep P.M. Geraedts, Marion Drüsedau, Suzanne C E H Sallevelt, Ronald J T van Golde, Aimee D C Paulussen, Massimo Zeviani, Luca Gianaroli, Debby M.E.I. Hellebrekers, Edith Coonen, Hubert J.M. Smeets
Publikováno v:
Human Reproduction, 32(3), 698-703. Oxford University Press
We report on the first PGD performed for the m.14487 T>C mitochondrial DNA (mtDNA) mutation in the MT-ND6 gene, associated with Leigh syndrome. The female carrier gave birth to a healthy baby boy at age 42. This case adds to the successes of PGD for