Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Yvonne Tiersma"'
Autor:
Bryony A. Thompson, Rhiannon Walters, Michael T. Parsons, Troy Dumenil, Mark Drost, Yvonne Tiersma, Noralane M. Lindor, Sean V. Tavtigian, Niels de Wind, Amanda B. Spurdle, the InSiGHT Variant Interpretation Committee, Fahd Al-Mulla, Daniel Buchanan, Susan Farrington, Ian Frayling, Maurizio Genuardi, Elke Holinski-Feder, Maija R. J. Kohonen-Corish, Andreas Laner, Alexandra Martins, Finlay Macrae, Pål Møller, Monika Morak, Elisabet Ognedal, John-Paul Plazzer, Lene Juel Rasmussen, Carli Tops
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Functional assays that assess mRNA splicing can be used in interpretation of the clinical significance of sequence variants, including the Lynch syndrome-associated mismatch repair (MMR) genes. The purpose of this study was to investigate the contrib
Externí odkaz:
https://doaj.org/article/9cc3036b8517473a900b9588e8069c13
Autor:
Emily Rayner, Yvonne Tiersma, Cristina Fortuno, Sandrine van Hees‐Stuivenberg, Mark Drost, Bryony Thompson, Amanda B. Spurdle, Niels de Wind
Publikováno v:
Human Mutation: Variation, Informatics and Disease, 43(9), 1249-1258. WILEY
Human Mutation, 43(9), 1249-1258. Wiley-Liss Inc.
Human Mutation, 43(9), 1249-1258. Wiley-Liss Inc.
The large majority of germline alterations identified in the DNA mismatch repair (MMR) gene PMS2, a low-penetrance gene for the cancer predisposition Lynch syndrome, represent variants of uncertain significance (VUS). The inability to classify most V
Autor:
Emily Rayner, Yvonne Tiersma, Cristina Fortuno, Sandrine van Hees-Stuivenberg, Mark Drost, Bryony Thompson, Amanda Spurdle, Niels de Wind
The large majority of germline alterations identified in the DNA mismatch repair (MMR) gene PMS2, a low-penetrance gene for the cancer predisposition Lynch Syndrome (LS, OMIM 120435), represent variants of unknown significance (VUS). The inability to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::72a9f5958ef5ba812299a7b8744f09e6
https://doi.org/10.22541/au.163772741.15317643/v1
https://doi.org/10.22541/au.163772741.15317643/v1
Autor:
Dylan M. Glubb, Niels de Wind, Helga Westers, Christi J. van Asperen, Marc S. Greenblatt, Susan S. Wallace, Lisa Pappas, Scott D. Kathe, Sean V. Tavtigian, Rolf H. Sijmons, David E. Goldgar, Jane H. Frederiksen, Kenneth M. Boucher, Guido Keijzers, Bryony A. Thompson, Yvonne Tiersma, Mark Drost, Jan Osinga, José B. M. Zonneveld, Siska Molenkamp, Amanda B. Spurdle, Lene Juel Rasmussen
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 21(7), 1486-1496. Nature Publishing Group
Genet Med
Genetics in Medicine, 21(7), 1486-1496. NATURE PUBLISHING GROUP
Genetics in Medicine, 21(7), 1486-1496. Nature Publishing Group
Genet Med
Genetics in Medicine, 21(7), 1486-1496. NATURE PUBLISHING GROUP
PURPOSE:To enhance classification of variants of uncertain significance (VUS) in the DNA mismatch repair (MMR) genes in the cancer predisposition Lynch syndrome, we developed the cell-free in vitro MMR activity (CIMRA) assay. Here, we calibrate and v
Autor:
Liselotte P. van Hest, Stephanie A. Schubert, Mark Drost, Dina Ruano, Maartje Nielsen, Noel F C C de Miranda, Tom van Wezel, Hans Morreau, Yvonne Tiersma, Niels de Wind
Publikováno v:
Genes, Chromosomes and Cancer, 59(12), 697-701
Schubert, S A, Ruano, D, Tiersma, Y, Drost, M, de Wind, N, Nielsen, M, van Hest, L P, Morreau, H, de Miranda, N F C C & van Wezel, T 2020, ' Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer ', Genes, Chromosomes and Cancer, vol. 59, no. 12, pp. 697-701 . https://doi.org/10.1002/gcc.22883
Genes, Chromosomes and Cancer, 59(12), 697-701. WILEY
Genes, Chromosomes & Cancer
Schubert, S A, Ruano, D, Tiersma, Y, Drost, M, de Wind, N, Nielsen, M, van Hest, L P, Morreau, H, de Miranda, N F C C & van Wezel, T 2020, ' Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer ', Genes, Chromosomes and Cancer, vol. 59, no. 12, pp. 697-701 . https://doi.org/10.1002/gcc.22883
Genes, Chromosomes and Cancer, 59(12), 697-701. WILEY
Genes, Chromosomes & Cancer
We describe a family severely affected by colorectal cancer (CRC) where whole‐exome sequencing identified the coinheritance of the germline variants encoding MSH6 p.Thr1100Met and MUTYH p.Tyr179Cys in, at least, three CRC patients diagnosed before
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e1512c1eb96099f97eb82dee5cad9e2
https://research.vumc.nl/en/publications/b7f437a6-18fc-46fc-ad95-203d594df9e6
https://research.vumc.nl/en/publications/b7f437a6-18fc-46fc-ad95-203d594df9e6
Autor:
Maartje Nielsen, Marjolijn J. L. Ligtenberg, Yvonne Tiersma, Juul T. Wijnen, Maran J. W. Olderode-Berends, Encarna Gomez Garcia, B. Redeker, José B. M. Zonneveld, Sanne W. ten Broeke, Frederik J. Hes, Carli M. J. Tops, Peter Devilee, Theo A. M. van Os, Christi J. van Asperen, Hans J. J. P. Gille, Niels de Wind, Heleen M. van der Klift, Arjen R. Mensenkamp, Tom G.W. Letteboer, Yvonne J. Vos, Elsa C. Bik, Mark Drost, S. Verhoef, Liselotte P. van Hest, Anja Wagner
Publikováno v:
Human mutation, 37(11), 1162-1179. Wiley-Liss Inc.
Human Mutation, 37(11), 1162-1179. Wiley-Liss Inc.
Human Mutation, 37(11), 1162–1179. Wiley-Liss Inc.
Human Mutation, 37(11), 1162-1179. Wiley
Human Mutation, 37(11), 1162-1179
Human Mutation, 37, 11, pp. 1162-1179
Human Mutation, 37, 1162-1179
van der Klift, H M, Mensenkamp, A R, Drost, M, Bik, E C, Vos, Y J, Gille, H J J P, Redeker, B E J W, Tiersma, Y, Zonneveld, J B M, Garcia, E G, Letteboer, T G W, Olderode-Berends, M J W, van Hest, L P, van Os, T A, Verhoef, S, Wagner, A, van Asperen, C J, Ten Broeke, S W, Hes, F J, de Wind, N, Nielsen, M, Devilee, P, Ligtenberg, M J L, Wijnen, J T & Tops, C M J 2016, ' Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome ', Human Mutation, vol. 37, no. 11, pp. 1162-1179 . https://doi.org/10.1002/humu.23052
Human Mutation, 37(11), 1162-1179. Wiley-Liss Inc.
Human Mutation, 37(11), 1162–1179. Wiley-Liss Inc.
Human Mutation, 37(11), 1162-1179. Wiley
Human Mutation, 37(11), 1162-1179
Human Mutation, 37, 11, pp. 1162-1179
Human Mutation, 37, 1162-1179
van der Klift, H M, Mensenkamp, A R, Drost, M, Bik, E C, Vos, Y J, Gille, H J J P, Redeker, B E J W, Tiersma, Y, Zonneveld, J B M, Garcia, E G, Letteboer, T G W, Olderode-Berends, M J W, van Hest, L P, van Os, T A, Verhoef, S, Wagner, A, van Asperen, C J, Ten Broeke, S W, Hes, F J, de Wind, N, Nielsen, M, Devilee, P, Ligtenberg, M J L, Wijnen, J T & Tops, C M J 2016, ' Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome ', Human Mutation, vol. 37, no. 11, pp. 1162-1179 . https://doi.org/10.1002/humu.23052
Monoallelic PMS2 germline mutations cause 5-15% of Lynch syndrome, a midlife cancer predisposition, whereas biallelic PMS2 mutations cause approximately 60% of constitutional MMR deficiency (CMMRD), a rare childhood cancer syndrome. Recently improved
Autor:
Jaqueline E. Paramarta, Chris M. van der Loos, Dominique Baeten, Gabriela FrancoSalinas, Paul L. Klarenbeek, Paul P. Tak, Yvonne Tiersma, Niek de Vries, Tineke Cantaert, Marieke E. Doorenspleet
Publikováno v:
Arthritis and rheumatism, 64(6), 1859-1868. John Wiley and Sons Inc.
Objective Whether and how B lymphocytes contribute to the pathogenesis of spondylarthritis (SpA), a seronegative arthritis associated with gut inflammation, remains unknown. Because innate-like CD5+ B lymphocytes with regulatory functions have been i
Autor:
Dominique Baeten, J.E. Paramarta, Paul P. Tak, Yvonne Tiersma, Leen De Rycke, Tineke Cantaert, Carmen A. Ambarus
Publikováno v:
Annals of the Rheumatic Diseases. 69:A13-A14
We recently proposed that spondyloarthritis (SpA) is characterised by primary alterations in the innate rather than the acquired immune system. However, SpA patients develop a strong IgM antinuclear antibody profile upon tumour necrosis factor blocka