Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Malou Heijligers"'
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:
Alexander J. M. Dingemans, Kim M. G. Truijen, Sam van de Ven, Raphael Bernier, Ernie M. H. F. Bongers, Arjan Bouman, Laura de Graaff – Herder, Evan E. Eichler, Erica H. Gerkes, Christa M. De Geus, Johanna M. van Hagen, Philip R. Jansen, Jennifer Kerkhof, Anneke J. A. Kievit, Tjitske Kleefstra, Saskia M. Maas, Stella A. de Man, Haley McConkey, Wesley G. Patterson, Amy T. Dobson, Eloise J. Prijoles, Bekim Sadikovic, Raissa Relator, Roger E. Stevenson, Connie T. R. M. Stumpel, Malou Heijligers, Kyra E. Stuurman, Katharina Löhner, Shimriet Zeidler, Jennifer A. Lee, Amanda Lindy, Fanggeng Zou, Matthew L. Tedder, Lisenka E. L. M. Vissers, Bert B. A. de Vries
Publikováno v:
Translational Psychiatry, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract CHD8, a major autism gene, functions in chromatin remodelling and has various roles involving several biological pathways. Therefore, unsurprisingly, previous studies have shown that intellectual developmental disorder with autism and macroc
Externí odkaz:
https://doaj.org/article/7ea31eb997db422aa3beb7b35aae7a11
Autor:
Brigitte H. W. Faas, Dineke Westra, Sonja A. de Munnik, Maartje van Rij, Carlo Marcelis, Sara Joosten, Ingrid Krapels, Vivian Vernimmen, Malou Heijligers, Marjolein H. Willemsen, Nicole de Leeuw, Tuula Rinne, Rolph Pfundt, Sanne P. Smeekens, Sander P. A. Stegmann, Merryn Macville, Esther Sikkel, Audrey Coumans, Lia Wijnberger, Irma Derks, Josefa van Lent‐Albrechts, Tom Hofste, Raoul Timmermans, Janneke van den End, Servi J. C. Stevens, Ilse Feenstra
Publikováno v:
Prenatal Diagnosis, 43, 4, pp. 527-543
Item does not contain fulltext OBJECTIVE: We performed a 1-year evaluation of a novel strategy of simultaneously analyzing single nucleotide variants (SNVs), copy number variants (CNVs) and copy-number-neutral Absence-of-Heterozygosity from Whole Exo
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
Autor:
Amy McTague, Siddharth Srivastava, Tamison Jewett, Ali Al-Beshri, Constance Smith-Hicks, Shelagh Joss, Jennifer A. Sullivan, Sarju G. Mehta, Koenraad Devriendt, Pascal Joset, Laurence Faivre, Emma Kivuva, William G. Wilson, Gunnar Houge, Naama Orenstein, Yana Hoorne, Vickie L. Hannig, Malou Heijligers, Bart Loeys, Vandana Shashi, Katrina Prescott, Iris Verbinnen, Annick Toutain, Lauren M. Baldwin, Stephen P. Fulton, Katharina Steindl, Anne Marie Childs, Anna Chassevent, Shelley Towner, Cornelia Daumer-Haas, Oded Wechsberg, Alison Male, Hannah F. Johnson, Wendy K. Chung, Anita Rauch, Anna Ruiz, Isabelle Maystadt, Sara Reynhout, Sébastien Moutton, Yvette van Ierland, Veerle Janssens, Frédéric Laumonnier, Martina Baethmann, Lisa Lenaerts, Vani Jain, Vinod Varghese, Suzanne M. Koudijs, Elisabeth Gabau, Frédérique Bonnet-Brilhault, Rizwan Hamid, Susan E. Holder, Barbara Plecko
Publikováno v:
Genetics in Medicine, 23(2), 352-362. Nature Publishing Group
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in Medicine, 23(2), 352-362. Lippincott Williams & Wilkins
Genetics in Medicine, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in medicine
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in Medicine, 23(2), 352-362. Lippincott Williams & Wilkins
Genetics in Medicine, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in medicine
PURPOSE: Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A) dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA, and more rarely in PPP2R1A. Here, we aimed to better understand the latter by cha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1563bdcdf43463d5995297a78f9c2f2
https://ddd.uab.cat/record/238621
https://ddd.uab.cat/record/238621
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
Publikováno v:
BMJ case Reports, 12(11):e231978. BMJ Publishing Group
BMJ Case Rep
BMJ Case Rep
Neonatal conjugated hyperbilirubinemia is a diagnostic challenge. A full term, small for gestational age boy presented with cholestasis, hypoglycemia, hyperferritinemia and severe bilateral deafness. Diagnostic work-up revealed two hereditary disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cc7e20c7d77b4384ad1f758a5e24041
https://cris.maastrichtuniversity.nl/en/publications/d935d48b-9275-499f-b10b-65b2f6f714f4
https://cris.maastrichtuniversity.nl/en/publications/d935d48b-9275-499f-b10b-65b2f6f714f4
Autor:
Christine E. M. de Die-Smulders, Aafke P.A. van Montfoort, Etienne Janssen, Femke Klein Gunnewiek, Ron J. T. van Golde, Mark A. H. B. M. van der Hoeven, Malou Heijligers, Joyce Nijsten, M. Meijer-Hoogeveen, Andrea Peeters, Edith Coonen, Yvonne Arens, Frank J.M. Broekmans, Rick de Rooy
Publikováno v:
Fertility and Sterility, 111(6), 1151-1158. Elsevier Science
Objective: To evaluate the growth, health, and motor development of children born after preimplantation genetic diagnosis (PGD).Design: Observational cohort study and comparison of 5-year-old children born after PGD to similar aged children born afte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::911b8bd6f90a1dc6a7394cf156e5d570
https://cris.maastrichtuniversity.nl/en/publications/cc56f106-51dd-427c-a0a5-f7b95cf437c6
https://cris.maastrichtuniversity.nl/en/publications/cc56f106-51dd-427c-a0a5-f7b95cf437c6
Autor:
M.A.H.B.M. van der Hoeven, M van der Sangen, C. E. M. De Die-Smulders, Lisa M. Jonkman, Yvonne Arens, M. Meijer-Hoogeveen, L M M Verheijden, Malou Heijligers
Publikováno v:
Human Reproduction, 33(11). Oxford University Press
STUDY QUESTION: Does PGD increase the risk on adverse cognitive and socio-emotional development?SUMMARY ANSWER: The cognitive and socio-emotional development in children born after PGD seems to be normal when compared to control groups.WHAT IS KNOWN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a9ce615bbc5bd06f9b0b546a4910c23
https://cris.maastrichtuniversity.nl/en/publications/73a1597f-06ef-4154-8b0a-b2fce2fc1b69
https://cris.maastrichtuniversity.nl/en/publications/73a1597f-06ef-4154-8b0a-b2fce2fc1b69