Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Marcel Nel"'
Publikováno v:
Frontiers in Medicine, Vol 8 (2021)
The pandemic caused by SARS-CoV-2 has infected more than 94 million people worldwide (as of 17 January 2020). Severe disease is believed to be secondary to the cytokine release syndrome (CRS or “cytokine storm”) which causes local tissue damage a
Externí odkaz:
https://doaj.org/article/29809ccfd9c34070b1fa7ff84e476c2a
Autor:
Anne E. Mercier, Renaud Prudent, Michael S. Pepper, Leanne De Koning, Elsie Nolte, Lauralie Peronne, Marcel Nel, Laurence Lafanechère, Anna M. Joubert
Publikováno v:
Molecules, Vol 26, Iss 3, p 706 (2021)
The search for novel anti-cancer compounds which can circumvent chemotherapeutic drug resistance and limit systemic toxicity remains a priority. 2-Ethyl-3-O-sulphamoyl-estra-1,3,5(10)15-tetraene-3-ol-17one (ESE-15-one) and 2-ethyl-3-O-sulphamoyl-estr
Externí odkaz:
https://doaj.org/article/01728ee26385460c91981320dc8a7c59
Autor:
Gaby Schobers, Ronny Derks, Amber den Ouden, Hilde Swinkels, Jeroen van Reeuwijk, Ermanno Bosgoed, Dorien Lugtenberg, Su Ming Sun, Jordi Corominas Galbany, Marjan Weiss, Marinus J. Blok, Richelle A. C. M. Olde Keizer, Tom Hofste, Debby Hellebrekers, Nicole de Leeuw, Alexander Stegmann, Erik-Jan Kamsteeg, Aimee D. C. Paulussen, Marjolijn J. L. Ligtenberg, Xiangqun Zheng Bradley, John Peden, Alejandra Gutierrez, Adam Pullen, Tom Payne, Christian Gilissen, Arthur van den Wijngaard, Han G. Brunner, Marcel Nelen, Helger G. Yntema, Lisenka E. L. M. Vissers
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-11 (2024)
Abstract Background To diagnose the full spectrum of hereditary and congenital diseases, genetic laboratories use many different workflows, ranging from karyotyping to exome sequencing. A single generic high-throughput workflow would greatly increase
Externí odkaz:
https://doaj.org/article/74d1dac2ac704a6d872248d27edfaa77
Autor:
Abderrahim Marouane, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers
Publikováno v:
Frontiers in Genetics, Vol 14 (2024)
Introduction: Rapid exome sequencing (rES) has become the first-choice genetic test for critically ill patients, mostly neonates, young infants, or fetuses in prenatal care, in time-sensitive situations and when it is expected that the genetic test r
Externí odkaz:
https://doaj.org/article/364681d5e75041ca8dc96c630c12c069
Autor:
Wolfgang Dohle, Anna Margaretha Joubert, Anne Elisabeth Theron, Marcel Nel, Barry V. L. Potter
Publikováno v:
Drug Design, Development and Therapy
Marcel Nel,1 Anna M Joubert,1 Wolfgang Dohle,2 Barry VL Potter,2 Anne E Theron1 1Department of Physiology, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa; 2Medicinal Chemistry & Drug Discovery, Department of Pharmacology,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e63c0f454ded33c3a771bdae53e2a5cc
https://pubmed.ncbi.nlm.nih.gov/29983544
https://pubmed.ncbi.nlm.nih.gov/29983544
Autor:
E.M. Nolte, Magdalena Coetzee, Anne Elisabeth Mercier, Anna Margaretha Joubert, Michael S. Pepper, Marcel Nel, J.M. Helena, Simone Grobbelaar
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 19, Iss 4, p 1148 (2018)
International Journal of Molecular Sciences, Vol 19, Iss 4, p 1148 (2018)
Deoxyribonucleic acid (DNA) is the self-replicating hereditary material that provides a blueprint which, in collaboration with environmental influences, produces a structural and functional phenotype. As DNA coordinates and directs differentiation, g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::438bf79bfaa7a0a503a44a562bb718e9
https://pubmed.ncbi.nlm.nih.gov/29641431
https://pubmed.ncbi.nlm.nih.gov/29641431
Autor:
Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, Christian Gilissen, Solve-RD consortium
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-9 (2023)
Abstract Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect s
Externí odkaz:
https://doaj.org/article/e9e98a6b1dd24902a3e20ff89294d975
Autor:
Gea Kiewiet, Dineke Westra, Eddy N. de Boer, Emma van Berkel, Tom G. J. Hofste, Martine van Zweeden, Ronny C. Derks, Nico F. A. Leijsten, Martina H. A. Ruiterkamp-Versteeg, Bart Charbon, Lennart Johansson, Janneke Bos-Kruizinga, Inge J. Veenstra, Monique G. M. de Sain-van der Velden, Els Voorhoeve, M. Rebecca Heiner-Fokkema, Francjan van Spronsen, Birgit Sikkema-Raddatz, Marcel Nelen
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 1, p 20 (2024)
In this study, we compare next-generation sequencing (NGS) approaches (targeted panel (tNGS), whole exome sequencing (WES), and whole genome sequencing (WGS)) for application in newborn screening (NBS). DNA was extracted from dried blood spots (DBS)
Externí odkaz:
https://doaj.org/article/693ce665f4784d2c83d6224c090b19b6
Autor:
Gaby Schobers, Jolanda H. Schieving, Helger G. Yntema, Maartje Pennings, Rolph Pfundt, Ronny Derks, Tom Hofste, Ilse de Wijs, Nienke Wieskamp, Simone van den Heuvel, Jordi Corominas Galbany, Christian Gilissen, Marcel Nelen, Han G. Brunner, Tjitske Kleefstra, Erik-Jan Kamsteeg, Michèl A. A. P. Willemsen, Lisenka E. L. M. Vissers
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-10 (2022)
Abstract Background Approximately two third of patients with a rare genetic disease remain undiagnosed after exome sequencing (ES). As part of our post-test counseling procedures, patients without a conclusive diagnosis are advised to recontact their
Externí odkaz:
https://doaj.org/article/444b339bc7834262a4908fed8af18424
Autor:
Jose Espejo Valle-Inclan, Nicolle J.M. Besselink, Ewart de Bruijn, Daniel L. Cameron, Jana Ebler, Joachim Kutzera, Stef van Lieshout, Tobias Marschall, Marcel Nelen, Peter Priestley, Ivo Renkens, Margaretha G.M. Roemer, Markus J. van Roosmalen, Aaron M. Wenger, Bauke Ylstra, Remond J.A. Fijneman, Wigard P. Kloosterman, Edwin Cuppen
Publikováno v:
Cell Genomics, Vol 2, Iss 6, Pp 100139- (2022)
Summary: Accurate detection of somatic structural variation (SV) in cancer genomes remains a challenging problem. This is in part due to the lack of high-quality, gold-standard datasets that enable the benchmarking of experimental approaches and bioi
Externí odkaz:
https://doaj.org/article/f08ff7a8abe64b31bdcb821bc498cd0a