Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Debby M E I, Hellebrekers"'
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:
Maria Eleftheriadou, Evita Medici‐ van den Herik, Kyra Stuurman, Yolande vanBever, Debby M. E. I. Hellebrekers, Marjon vanSlegtenhorst, George Ruijter, Tahsin Stefan Barakat
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)
Abstract Background Isobutyryl‐CoA dehydrogenase (IBD) is a mitochondrial enzyme catalysing the third step in the degradation of the essential branched‐chain amino acid valine and is encoded by ACAD8. ACAD8 mutations lead to isobutyryl‐CoA dehy
Externí odkaz:
https://doaj.org/article/df566ba37f2b46eb9875fd0d91d44cc8
Autor:
Stephan A. C. Schoonvelde, Claudine W. B. Ruijmbeek, Judith M. A. Verhagen, Debby M. E. I. Hellebrekers, Marcel J. M. Kofflard, Michelle Michels, Alexander Hirsch
Publikováno v:
Radiology: Cardiothoracic Imaging, 5(2):e230014. Radiological Society of North America Inc.
Radiol Cardiothorac Imaging
Radiol Cardiothorac Imaging
Left ventricular hypertrophy (LVH) has a broad differential diagnosis. Pathogenic variants of mitochondrial DNA are a rare cause of LVH, and cardiac MRI is a powerful technique that may aid in differentiating such rare causes. This case report presen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c91fc805ccb540491a1e34de18eb4529
https://doi.org/10.1148/ryct.230014
https://doi.org/10.1148/ryct.230014
Autor:
Tom E. J. Theunissen, Minh Nguyen, Rick Kamps, Alexandra T. Hendrickx, Suzanne C. E. H. Sallevelt, Ralph W. H. Gottschalk, Chantal M. Calis, Alphons P. M. Stassen, Bart de Koning, Elvira N. M. Mulder-Den Hartog, Kees Schoonderwoerd, Sabine A. Fuchs, Yvonne Hilhorst-Hofstee, Marianne de Visser, Jo Vanoevelen, Radek Szklarczyk, Mike Gerards, Irenaeus F. M. de Coo, Debby M. E. I. Hellebrekers, Hubert J. M. Smeets
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Mitochondrial disorders, characterized by clinical symptoms and/or OXPHOS deficiencies, are caused by pathogenic variants in mitochondrial genes. However, pathogenic variants in some of these genes can lead to clinical manifestations which overlap wi
Externí odkaz:
https://doaj.org/article/47cd824c9ce44759b3f813412a4b8eb1
Autor:
Tom E. J. Theunissen, Mike Gerards, Debby M. E. I. Hellebrekers, Florence H. van Tienen, Rick Kamps, Suzanne C. E. H. Sallevelt, Elvira N. M. M.-D. Hartog, Hans R. Scholte, Robert M. Verdijk, Kees Schoonderwoerd, Irenaeus F. M. de Coo, Radek Szklarczyk, Hubert J. M. Smeets
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 10 (2017)
Mitochondrial disorders are genetically and clinically heterogeneous, mainly affecting high energy-demanding organs due to impaired oxidative phosphorylation (OXPHOS). Currently, effective treatments for OXPHOS defects, with complex I deficiency bein
Externí odkaz:
https://doaj.org/article/0add165ba1894e8ebb9f94e220e1530b
Autor:
Jo M. Vanoevelen, Jörgen Bierau, Janine C. Grashorn, Ellen Lambrichs, Erik-Jan Kamsteeg, Levinus A. Bok, Ron A. Wevers, Marjo S. van der Knaap, Marianna Bugiani, Junmei Hu Frisk, Rita Colnaghi, Mark O’Driscoll, Debby M. E. I. Hellebrekers, Richard Rodenburg, Carlos R. Ferreira, Han G. Brunner, Arthur van den Wijngaard, Ghada M. H. Abdel-Salam, Liya Wang, Constance T. R. M. Stumpel
Publikováno v:
Acta Neuropathologica, 143(2), 245-262. Springer Verlag
Acta Neuropathologica, 143, 2, pp. 245-262
Acta Neuropathologica, 143, 245-262
Vanoevelen, J M, Bierau, J R, Grashorn, J C, Lambrichs, E, Kamsteeg, E-J, Bok, L A, Wevers, R A, van der Knaap, M S, Bugiani, M, Frisk, J H, Colnaghi, R, O’Driscoll, M, Hellebrekers, D M E I, Rodenburg, R, Ferreira, C R, Brunner, H G, van den Wijngaard, A, Abdel-Salam, G M H, Wang, L & Stumpel, C T R M 2022, ' DTYMK is essential for genome integrity and neuronal survival ', Acta Neuropathologica, vol. 143, no. 2, pp. 245-262 . https://doi.org/10.1007/s00401-021-02394-0
Acta Neuropathologica, 143(2), 245-262. Springer, Cham
Acta Neuropathologica
Acta Neuropathologica, 143, 2, pp. 245-262
Acta Neuropathologica, 143, 245-262
Vanoevelen, J M, Bierau, J R, Grashorn, J C, Lambrichs, E, Kamsteeg, E-J, Bok, L A, Wevers, R A, van der Knaap, M S, Bugiani, M, Frisk, J H, Colnaghi, R, O’Driscoll, M, Hellebrekers, D M E I, Rodenburg, R, Ferreira, C R, Brunner, H G, van den Wijngaard, A, Abdel-Salam, G M H, Wang, L & Stumpel, C T R M 2022, ' DTYMK is essential for genome integrity and neuronal survival ', Acta Neuropathologica, vol. 143, no. 2, pp. 245-262 . https://doi.org/10.1007/s00401-021-02394-0
Acta Neuropathologica, 143(2), 245-262. Springer, Cham
Acta Neuropathologica
Nucleotide metabolism is a complex pathway regulating crucial cellular processes such as nucleic acid synthesis, DNA repair and proliferation. This study shows that impairment of the biosynthesis of one of the building blocks of DNA, dTTP, causes a s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08cbd065e18192d0f5b5094c316c2f74
https://research.vumc.nl/en/publications/967a533e-3190-4119-814a-ebf8e8739321
https://research.vumc.nl/en/publications/967a533e-3190-4119-814a-ebf8e8739321
Autor:
Sarah Derks, Marjolein H. F. M. Lentjes, Debby M. E. I. Hellebrekers, Adriaan P. de Bruïne, James G. Herman, Manon van Engeland
Publikováno v:
Cellular Oncology, Vol 26, Iss 5-6, Pp 291-299 (2004)
Methylation‐specific PCR (MSP) is a simple, quick and cost‐effective method to analyze the DNA methylation status of virtually any group of CpG sites within a CpG island. The technique comprises two parts: (1) sodium bisulfite conversion of unmet
Externí odkaz:
https://doaj.org/article/05403afa329742dbb10b5ee058bf2c7e
Autor:
Sophie L V M, Stroeks, Debby M E I, Hellebrekers, Godelieve R F, Claes, Upasana, Tayal, Ingrid P C, Krapels, Els K, Vanhoutte, Arthur, van den Wijngaard, Michiel T H M, Henkens, James S, Ware, Stephane R B, Heymans, Han G, Brunner, Job A J, Verdonschot
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(11)
Accurate interpretation of variants detected in dilated cardiomyopathy (DCM) is crucial for patient care but has proven challenging. We applied a set of proposed refined American College of Medical Genetics and Genomics/Association for Molecular Path
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9e9ea9986a9e17881406cd1d837d0a7b
https://pubmed.ncbi.nlm.nih.gov/34194005
https://pubmed.ncbi.nlm.nih.gov/34194005