Kosten en effecten van visusscreening en fotoscreening in de jeugdgezondheidszorg bij kinderen van 3 tot 6 jaar

Autor: C. P. B. Van der Ploeg, M. Grevinga, I. Eekhout, E. Vlasblom, C. I. Lanting, H. M. van Minderhout, J. van Dijk-van der Poel, M. E. van den Akker-van Marle, P. H. Verkerk

Publikováno v: JGZ Tijdschrift voor jeugdgezondheidszorg. 54:60-70

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b5455be2a47a0440ce39e9554b99e34f
https://doi.org/10.1007/s12452-022-00281-y

Leiden Open Variation Database of the MUTYH Gene

Autor: Patrick Franken, Frans B. L. Hogervorst, Carli M. J. Tops, Riccardo Fodde, Frederik J. Hes, Kathleen Claes, Astrid A. Out, Marie-Pierre Buisine, Stefan Aretz, Shirley Hodgson, Julian R. Sampson, Elke Holinski-Feder, Johan T. den Dunnen, Juul T. Wijnen, Egbert J.W. Redeker, Karl Heinimann, Kristina Lagerstedt-Robinson, Ivonne J. H. M. van Minderhout, Mette Gaustadnes, Maartje Nielsen, Friedrik P. Wikman, Marjan M. Weiss, Chrystelle Colas, Florentia Fostira, Bruno Vankeirsbilck, Ans M.W. van den Ouweland, Rikke Veggerby Grønlund, Peter Devilee, Rodney J. Scott, Sylviane Olschwang, Ivo F.A.C. Fokkema

Publikováno v: Out, A A, Tops, C M J, Nielsen, M, Weiss, M M, van Minderhout, I J H M, Fokkema, I F A C, Buisine, M-P, Claes, K, Colas, C, Fodde, R, Fostira, F, Franken, P F, Gaustadnes, M, Heinimann, K, Hodgson, S V, Hogervorst, F B L, Holinski-Feder, E, Lagerstedt-Robinson, K, Olschwang, S, van den Ouweland, A M W, Redeker, E J W, Scott, R J, Vankeirsbilck, B, Grønlund, R V, Wijnen, J T, Wikman, F P, Aretz, S, Sampson, J R, Devilee, P, den Dunnen, J T & Hes, F J 2010, ' Leiden Open Variation Database of the MUTYH gene ', Human Mutation, vol. 31, no. 11, pp. 1205-15 . https://doi.org/10.1002/humu.21343
Human Mutation, 31(11), 1205-1215
Human mutation, 31(11), 1205-1215. Wiley-Liss Inc.
Human Mutation; Vol 31
Human Mutation, 31(11), 1205-1215. Wiley-Liss Inc.

The MUTYH gene encodes a DNA glycosylase involved in base excision repair (BER). Biallelic pathogenic MUTYH variants have been associated with colorectal polyposis and cancer. The pathogenicity of a few variants is beyond doubt, including c.536A>G/p.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad253e5fbd209d208e41316c0ddef819
https://hdl.handle.net/1765/21496

High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations

Autor: Irma Kluijt, Nienke van der Stoep, Astrid A. Out, Cora M. Aalfs, Ivonne J. H. M. van Minderhout, Lysette S. R. van Bommel, Maartje Nielsen, Rolf H. A. M. Vossen, Hans F. A. Vasen, Carli M. J. Tops, Hans Morreau, Marsha Voorendt, Peter Devilee, Frederik J. Hes

Publikováno v: Familial Cancer, 14(2), 247-257
Familial Cancer
Familial cancer, 14(2), 247-257. Springer Netherlands

Familial adenomatous polyposis is most frequently caused by pathogenic variants in either the APC gene or the MUTYH gene. The detection rate of pathogenic variants depends on the severity of the phenotype and sensitivity of the screening method, incl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::841ae84e97ac71186cbdc06d765c7a29
http://hdl.handle.net/1887/117461

A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal Plasma

Autor: Ivonne J. H. M. van Minderhout, Nicolette S. den Hollander, Egbert Bakker, Jessica M.E. van den Oever, Elles M. J. Boon, Nienke van der Stoep, Cornelis L. Harteveld

Publikováno v: Journal of Molecular Diagnostics, 17(5), 590-596. Association of Molecular Pathology
Van Den Oever, J M E, Van Minderhout, I J H M, Harteveld, C L, Den Hollander, N S, Bakker, E, Van Der Stoep, N & Boon, E M J 2015, ' A novel targeted approach for noninvasive detection of paternally inherited mutations in maternal plasma ', Journal of Molecular Diagnostics, vol. 17, no. 5, pp. 590-596 . https://doi.org/10.1016/j.jmoldx.2015.05.006
The Journal of Molecular Diagnostics, 17(5), 590-596

The challenge in noninvasive prenatal diagnosis for monogenic disorders lies in the detection of low levels of fetal variants in the excess of maternal cell-free plasma DNA. Next-generation sequencing, which is the main method used for noninvasive pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e189d892e326845bec4aa50daa4a1e9
https://pubmed.ncbi.nlm.nih.gov/26213319

Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families

Autor: Ekaterina S. Jordanova, Peter E.M. Taschner, Erik F. Hensen, Pancras C.W. Hogendoorn, Ivonne J. H. M. van Minderhout, Andel G. L. van der Mey, Peter Devilee, Cees J. Cornelisse

Publikováno v: Oncogene. 23:4076-4083

Germline mutations in succinate dehydrogenase subunits B, C and D (SDHB, SDHC and SDHD), genes encoding subunits of mitochondrial complex II, cause hereditary paragangliomas and phaeochromocytomas. In SDHB (1p36)- and SDHC (1q21)-linked families, dis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09b967679c5b3d3babf01808c4a400b3
https://doi.org/10.1038/sj.onc.1207591