Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Jos C. F. M. Dreesen"'
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:
Jos C. F. M. Dreesen, Suzanne C E H Sallevelt, Hubert J.M. Smeets, Irenaeus F.M. de Coo, Christine E. M. de Die-Smulders
Publikováno v:
Annals of the New York Academy of Sciences. 1350:29-36
Mitochondrial disorders are among the most common inborn errors of metabolism; at least 15% are caused by mitochondrial DNA (mtDNA) mutations, which occur de novo or are maternally inherited. For familial heteroplasmic mtDNA mutations, the mitochondr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::27671c0527831cb9e6394293d1b05b94
https://doi.org/10.1111/nyas.12866
https://doi.org/10.1111/nyas.12866
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
Autor:
Christine E. M. de Die-Smulders, Joep P. Geraedts, I.A.P. Derks-Smeets, Marinus J. Blok, Aimee D C Paulussen, Marion Drüsedau, Encarna B. Gomez-Garcia, Jos C. F. M. Dreesen, Hubert J T Smeets, Edith Coonen, Ron J. T. van Golde, P.M.M. Kastrop, Jannie van Echten-Arends
Publikováno v:
European Journal of Human Genetics, 21(12), 1361-1368. Nature Publishing Group
Preimplantation Genetic Diagnosis (PGD) is a method of testing in vitro embryos as an alternative to prenatal diagnosis with possible termination of pregnancy in case of an affected child. Recently, PGD for hereditary breast and ovarian cancer caused
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::263140cd7d3e34f786851782ebaa36d9
https://doi.org/10.1038/ejhg.2013.50
https://doi.org/10.1038/ejhg.2013.50
Autor:
Stéphane Viville, Inge Liebaers, Céline Moutou, Maartje Van Rij, Marjan De Rademaeker, Christine E. M. de Die-Smulders, Joep P.M. Geraedts, Martine De Rycke, Jos C. F. M. Dreesen
Publikováno v:
European Journal of Human Genetics, 20(4), 368-375. Nature Publishing Group
This study provides an overview of 13 years of experience of preimplantation genetic diagnosis (PGD) for Huntington's disease (HD) at three European PGD centres in Brussels, Maastricht and Strasbourg. Information on all 331 PGD intakes for HD, couple
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4523c51dc6c9b62cef1d204a9419e68
https://doi.org/10.1038/ejhg.2011.202
https://doi.org/10.1038/ejhg.2011.202
Autor:
Hubert J M, Smeets, Suzanne C E H, Sallevelt, Jos C F M, Dreesen, Christine E M, de Die-Smulders, Irenaeus F M, de Coo
Publikováno v:
Annals of the New York Academy of Sciences. 1350
Mitochondrial disorders are among the most common inborn errors of metabolism; at least 15% are caused by mitochondrial DNA (mtDNA) mutations, which occur de novo or are maternally inherited. For familial heteroplasmic mtDNA mutations, the mitochondr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b5d6e8eff512bc44b0e3121814bbcf4f
https://pubmed.ncbi.nlm.nih.gov/26312584
https://pubmed.ncbi.nlm.nih.gov/26312584
Autor:
Birte Degn, Pamela Renwick, Joanne Traeger-Synodinos, Steven Davies, Filipa Carvalho, Jos C. F. M. Dreesen, Sioban SenGupta, Georgia Kourlaba, Emmanouel Kanavakis, Céline Moutou, Wulf Christensen Mette, Gary Harton, S Dhanjal, Aspasia Destouni
Publikováno v:
European Journal of Human Genetics, 22(8). Nature Publishing Group
Dreesen, J, Destouni, A, Kourlaba, G, Degn, B, Christensen, M W, Carvalho, F, Moutou, C, Sengupta, S, Dhanjal, S, Renwick, P, Davies, S, Kanavakis, E, Harton, G & Traeger-Synodinos, J 2013, ' Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases : a collaborative ESHRE PGD consortium study ', European Journal of Human Genetics . https://doi.org/10.1038/ejhg.2013.277
Dreesen, J, Destouni, A, Kourlaba, G, Degn, B, Christensen, M W, Carvalho, F, Moutou, C, Sengupta, S, Dhanjal, S, Renwick, P, Davies, S, Kanavakis, E, Harton, G & Traeger-Synodinos, J 2013, ' Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases : a collaborative ESHRE PGD consortium study ', European Journal of Human Genetics . https://doi.org/10.1038/ejhg.2013.277
Preimplantation genetic diagnosis (PGD) for monogenic disorders currently involves polymerase chain reaction (PCR)-based methods, which must be robust, sensitive and highly accurate, precluding misdiagnosis. Twelve adverse misdiagnoses reported to th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4dff786ba8af666e6ca24722838c370
https://cris.maastrichtuniversity.nl/en/publications/4c38341a-5eb2-4aee-8050-ffb0a8b6c43e
https://cris.maastrichtuniversity.nl/en/publications/4c38341a-5eb2-4aee-8050-ffb0a8b6c43e
Autor:
Johannes L.H. Evers, Joep P.M. Geraedts, Jos C. F. M. Dreesen, Edith Coonen, John C.M. Dumoulin, M. Bras
Publikováno v:
Journal of Assisted Reproduction and Genetics. 13:133-136
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aeb1f5dadec6e5132bea1553a164e211
https://doi.org/10.1007/bf02072534
https://doi.org/10.1007/bf02072534
Autor:
M. Bras, Edith Coonen, Johannes L.H. Evers, John C.M. Dumoulin, Jos C. F. M. Dreesen, Joep P.M. Geraedts
Publikováno v:
Journal of assisted reproduction and genetics. 13(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f470fbe219bc6519cd3b7e6cbd88002
https://pubmed.ncbi.nlm.nih.gov/8688582
https://pubmed.ncbi.nlm.nih.gov/8688582
Autor:
Johannes L.H. Evers, John C.M. Dumoulin, Jos C. F. M. Dreesen, M.H.E.C. Pieters, Joep P.M. Geraedts
Publikováno v:
Human genetics. 96(3)
In order to approach preimplantation testing for the fragile-X syndrome, we used genotyping of the polymorphic RS46(DXS548) locus closely linked to the FMR-1 gene, in single reproductive cells of females. The RS46(DXS548) amplification was adjusted t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5e7eee4e258af5b1b3fcefdad698382
https://pubmed.ncbi.nlm.nih.gov/7649550
https://pubmed.ncbi.nlm.nih.gov/7649550