Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Frank J Magielsen"'
Autor:
Yolande van Bever, Ruben G Boers, Hennie T Brüggenwirth, Wilfred Fj van IJcken, Frank J Magielsen, Annelies de Klein, Joachim B Boers, Leendert Hj Looijenga, Erwin Brosens, Joost Gribnau, Sabine E Hannema
Publikováno v:
Epigenetics, Vol 19, Iss 1 (2024)
In patients with proximal hypospadias, often no genetic cause is identified despite extensive genetic testing. Many genes involved in sex development encode transcription factors with strict timing and dosing of the gene products. We hypothesised tha
Externí odkaz:
https://doaj.org/article/71fec12029654280bacf538ebc935943
Autor:
Annechien E.G. Haarman, MD, Caroline C.W. Klaver, MD, PhD, Milly S. Tedja, MD, Susanne Roosing, PhD, Galuh Astuti, MSc, Christian Gilissen, PhD, Lies H. Hoefsloot, MD, PhD, Marianne van Tienhoven, BSc, Tom Brands, Ing, Frank J. Magielsen, Ing, Bert H.J.F.M.M. Eussen, Ing, Annelies de Klein, PhD, Erwin Brosens, PhD, Virginie J.M. Verhoeven, MD, PhD
Publikováno v:
Ophthalmology Science, Vol 3, Iss 4, Pp 100303- (2023)
Purpose: Myopia (nearsightedness) is a condition in which a refractive error (RE) affects vision. Although common variants explain part of the genetic predisposition (18%), most of the estimated 70% heritability is missing. Here, we investigate the c
Externí odkaz:
https://doaj.org/article/1d1f755f75e7485baa103613d1e9e1b0
Autor:
Wojtek Drabarek, Job van Riet, Josephine Q. N. Nguyen, Kyra N. Smit, Natasha M. van Poppelen, Rick Jansen, Eva Medico-Salsench, Jolanda Vaarwater, Frank J. Magielsen, Tom Brands, Bert Eussen, Thierry. P. P. van den Bosch, Robert M. Verdijk, Nicole C. Naus, Dion Paridaens, Annelies de Klein, Erwin Brosens, Harmen J. G. van de Werken, Emine Kilic, on behalf of the Rotterdam Ocular Melanoma Study Group
Publikováno v:
Cancers, Vol 14, Iss 3, p 846 (2022)
Approximately 25% of all uveal melanoma (UM) contain driver mutations in the gene encoding the spliceosome factor SF3B1, and whilst patients with such SF3B1 mutations generally have an intermediate risk on developing metastatic disease, a third of th
Externí odkaz:
https://doaj.org/article/2f12a74a0b8644dda986a58aa70c4b3e
Autor:
Erwin Brosens, Frank J. Magielsen, Anne Goverde, Linda Gaillard, Annelies de Klein, Fernanda Sarquis Jehee, Quincy C. C. van den Bosch, Danielle Veenma, Marieke F. van Dooren, Irene M.J. Mathijssen
Publikováno v:
Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 9 (2021)
Frontiers in Pediatrics, Vol 9 (2021)
Congenital diaphragmatic hernia (CDH) is a life-threatening birth defect that presents as either an isolated diaphragm defect or as part of a complex disorder with a wide array of anomalies (complex CDH). Some patients with complex CDH display distin
Autor:
Frank J. Magielsen, Hendrikus J. Dubbink, Dion Paridaens, Annelies de Klein, Robert M. Verdijk, Bert Eussen, Tom Brands, Natasha M. van Poppelen, Nicole C. Naus, Erwin Brosens, Quincy C. C. van den Bosch, Emine Kilic, Jolanda Vaarwater, Jolique A van Ipenburg
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 5784, p 5784 (2021)
International Journal of Molecular Sciences, 22
International Journal of Molecular Sciences, 22(11):5784. Multidisciplinary Digital Publishing Institute (MDPI)
International Journal of Molecular Sciences
Volume 22
Issue 11
International Journal of Molecular Sciences, 22, 11
International Journal of Molecular Sciences, 22
International Journal of Molecular Sciences, 22(11):5784. Multidisciplinary Digital Publishing Institute (MDPI)
International Journal of Molecular Sciences
Volume 22
Issue 11
International Journal of Molecular Sciences, 22, 11
The aim of this study was exploration of the genetic background of conjunctival melanoma (CM) and correlation with recurrent and metastatic disease. Twenty-eight CM from the Rotterdam Ocular Melanoma Study group were collected and DNA was isolated fr