Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Martin G Elferink"'
Autor:
Martin G Elferink, Hendrik-Jan Megens, Addie Vereijken, Xiaoxiang Hu, Richard P M A Crooijmans, Martien A M Groenen
Publikováno v:
PLoS ONE, Vol 7, Iss 2, p e32720 (2012)
Identifying genomics regions that are affected by selection is important to understand the domestication and selection history of the domesticated chicken, as well as understanding molecular pathways underlying phenotypic traits and breeding goals. W
Externí odkaz:
https://doaj.org/article/5cd894543a624d45bc2dd2e95dc8e7b7
Autor:
Andres Ramirez-Martinez, Yichi Zhang, Marie-Jose van den Boogaard, John R. McAnally, Cristina Rodriguez-Caycedo, Andreas C. Chai, Francesco Chemello, Maarten P.G. Massink, Inge Cuppen, Martin G. Elferink, Robert J.J. van Es, Nard G. Janssen, Linda P.A.M. Walraven-van Oijen, Ning Liu, Rhonda Bassel-Duby, Richard H. van Jaarsveld, Eric N. Olson
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 11 (2022)
Skeletal muscle fibers contain hundreds of nuclei, which increase the overall transcriptional activity of the tissue and perform specialized functions. Multinucleation occurs through myoblast fusion, mediated by the muscle fusogens Myomaker (MYMK) an
Externí odkaz:
https://doaj.org/article/02c0f12272764eacacedd89bd47117d6
Publikováno v:
Genetics in Medicine, 23(3), 562-570. SPRINGERNATURE
PURPOSE: Existing research suggests that while some laboratories report variants of uncertain significance, unsolicited findings (UF), and/or secondary findings (SF) when performing exome sequencing, others do not. METHODS: To investigate reporting d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af5be2cab11b97663783e0f2543b3a18
https://hdl.handle.net/1887/3184992
https://hdl.handle.net/1887/3184992
Autor:
Maarten B. Rookmaaker, Albertien M. van Eerde, Roel Goldschmeding, Tri Q. Nguyen, Bert van der Zwaag, Richard H. van Jaarsveld, Robert F Ernst, Edith D.J. Peters, Eric Spierings, Arjan D. van Zuilen, Rozemarijn Snoek, Marc R. Lilien, Nine V A M Knoers, Martin G Elferink
Publikováno v:
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 37(2)
Background Often only chronic kidney disease (CKD) patients with high likelihood of genetic disease are offered genetic testing. Early genetic testing could obviate the need for kidney biopsies, allowing for adequate prognostication and treatment. To
Autor:
Alessio Marcozzi, Jeroen de Ridder, Roy Straver, Myrthe Jager, Lot A. Devriese, Joyce van Kuik, Li-Ting Chen, Remco de Bree, Martin G Elferink, Chris H.J. Terhaard, Boris Peltenburg, Stefan M. Willems, Wigard P. Kloosterman, Joost H. van Ginkel, Ivo Renkens
Levels of circulating tumor DNA (ctDNA) in liquid biopsies may serve as a sensitive biomarker for real-time, minimally-invasive tumor diagnostics and monitoring. However, detecting ctDNA is challenging, as much fewer than 5% of the cell-free DNA in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::afb5f4f2634985ef979db8ac0f5d9e4b
https://doi.org/10.1101/2020.07.14.202010
https://doi.org/10.1101/2020.07.14.202010
Autor:
Birgit Sikkema-Raddatz, Richard J. Sinke, F. van Dijk, Lennart Johansson, Morris A. Swertz, G H Schuring-Blom, Rolf H. Sijmons, R.F. Suijkerbuijk, G. J. Te Meerman, H. de Weerd, Martin G Elferink, E. N. de Boer
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
Scientific Reports, 7(1):1838. Nature Publishing Group
Scientific Reports, 7(1). Nature Publishing Group
Scientific Reports
Scientific Reports, 7(1):1838. Nature Publishing Group
Scientific Reports, 7(1). Nature Publishing Group
Scientific Reports
Non-invasive prenatal testing (NIPT) of cell-free DNA in maternal plasma, which is a mixture of maternal DNA and a low percentage of fetal DNA, can detect fetal aneuploidies using massively parallel sequencing. Because of the low percentage of fetal
Autor:
Joris Vermeesch, Martin G Elferink, Klaske D. Lichtenbelt, Heleen Schuring-Blom, Lieve Page-Christiaens, Marjan M. Weiss, Karin P M van Galen
Publikováno v:
Prenatal Diagnosis. 36:790-793
What's Already Known about this Topic? Prenatal testing with cell-free DNA may incidentally identify maternal genetic anomalies and malignancies. What does this Study Add? Profound vitamin B12 deficiency with intramedullary hemolysis may cause abnorm
Autor:
Ron Hochstenbach, Klaske D. Lichtenbelt, Jeske J.T. van Harssel, Martin G Elferink, Patrick H.A. van Zon, G. C. M. L. Page-Christiaens, Heleen Schuring-Blom
Publikováno v:
Clinical case reports, 6(5), 788. John Wiley and Sons Ltd
Clinical Case Reports
Clinical Case Reports
Key Clinical Message One of the confounders in noninvasive prenatal testing (NIPT) is the vanishing twin phenomenon. Prolonged contribution to the maternal Cell‐free DNA (cfDNA) pool by cytotrophoblasts representing a demised, aneuploid cotwin may
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4755dad5d7ccdbda01b61a32a200ccd
https://dspace.library.uu.nl/handle/1874/365151
https://dspace.library.uu.nl/handle/1874/365151
Autor:
Ron Hochstenbach, Carla A. C. van Oppen, Heleen Schuring-Blom, Patrick H.A. van Zon, Jeske J.T. van Harssel, Martijn A. Oudijk, Godelieve C.M.L. Page-Christiaens, Martin G Elferink, Peter G. J. Nikkels
Publikováno v:
Clinical case reports, 3(6), 489. John Wiley and Sons Ltd
Clinical Case Reports
Clinical case reports, 3(6), 489-491. John Wiley and Sons Ltd
Clinical Case Reports
Clinical case reports, 3(6), 489-491. John Wiley and Sons Ltd
Key Clinical Message Noninvasive prenatal testing (NIPT) and direct karyotyping of cytotrophoblast were normal for a male fetus, but cultured chorionic villus mesenchymal cells and umbilical cord fibroblasts showed nonmosaic trisomy 18. This observat
Autor:
H. Bovenhuis, Martien A. M. Groenen, Martin G Elferink, Richard P. M. A. Crooijmans, P. van As, A. M. Closter, Addie Vereijken, Eddy Decuypere
Publikováno v:
Poultry Science, 89, 1684-1691
Poultry Science 89 (2010)
Poultry Science 89 (2010)
Ascites syndrome is a metabolic disorder found in modern broilers that have insufficient pulmo- nary vascular capacity. Commercial breeding programs have heavily focused on high growth rate, which led to fast-growing chickens, but as a negative conse