Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Maartje Nielsen"'
Autor:
Manon, Suerink, Gül, Kilinç, Diantha, Terlouw, Hristina, Hristova, Lily, Sensuk, Demi, van Egmond, Arantza, Farina Sarasqueta, Alexandra M J, Langers, Tom, van Wezel, Hans, Morreau, Maartje, Nielsen, Amphia Ziekenhuis, Breda
Publikováno v:
Journal of Clinical Pathology, 74(11), 724-729. BMJ PUBLISHING GROUP
Journal of Clinical Pathology
Journal of clinical pathology, 74(11):207040, 724-729. BMJ Publishing Group
Journal of Clinical Pathology
Journal of clinical pathology, 74(11):207040, 724-729. BMJ Publishing Group
AimsPrevious estimates of the prevalence of mismatch repair (MMR) deficiency and Lynch syndrome in small bowel cancer have varied widely. The aim of this study was to establish the prevalence of MMR deficiency and Lynch syndrome in a large group of s
Autor:
Linda A.J. Hendricks, Nicoline Hoogerbrugge, Hanka Venselaar, Stefan Aretz, Isabel Spier, Eric Legius, Hilde Brems, Robin de Putter, Kathleen B.M. Claes, D. Gareth Evans, Emma R. Woodward, Maurizio Genuardi, Fulvia Brugnoletti, Yvette van Ierland, Kim Dijke, Emma Tham, Bianca Tesi, Janneke H.M. Schuurs-Hoeijmakers, Maud Branchaud, Hector Salvador, Arne Jahn, Simon Schnaiter, Violetta Christophidou Anastasiadou, Joan Brunet, Carla Oliveira, Laura Roht, Ana Blatnik, Arvids Irmejs, Arjen R. Mensenkamp, Janet R. Vos, Floor Duijkers, Jacques C. Giltay, Liselotte P. van Hest, Tjitske Kleefstra, Edward M. Leter, Maartje Nielsen, Sebastiaan W.R. Nijmeijer, Maran J.W. Olderode-Berends
Publikováno v:
European Journal of Medical Genetics, 65(12):104632. Elsevier Masson SAS
European journal of medical genetics, 65(12):104632. ELSEVIER SCIENCE BV
European Journal of Medical Genetics, 65(12):104632. Elsevier Masson
EUROPEAN JOURNAL OF MEDICAL GENETICS
European Journal of Medical Genetics, 65, 12
PTEN Study Group 2022, ' Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort ', European Journal of Medical Genetics, vol. 65, no. 12, 104632 . https://doi.org/10.1016/j.ejmg.2022.104632
European Journal of Medical Genetics, 65(12). Elsevier
European Journal of Medical Genetics, 65
European journal of medical genetics, 65(12):104632. ELSEVIER SCIENCE BV
European Journal of Medical Genetics, 65(12):104632. Elsevier Masson
EUROPEAN JOURNAL OF MEDICAL GENETICS
European Journal of Medical Genetics, 65, 12
PTEN Study Group 2022, ' Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort ', European Journal of Medical Genetics, vol. 65, no. 12, 104632 . https://doi.org/10.1016/j.ejmg.2022.104632
European Journal of Medical Genetics, 65(12). Elsevier
European Journal of Medical Genetics, 65
BACKGROUND: Pathogenic PTEN germline variants cause PTEN Hamartoma Tumor Syndrome (PHTS), a rare disease with a variable genotype and phenotype. Knowledge about these spectra and genotype-phenotype associations could help diagnostics and potentially
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b579f2ee726b8aee2834cd899346bae
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/285925
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/285925
Autor:
Lisa Elze, Arjen R. Mensenkamp, Iris D. Nagtegaal, Wendy A.G. van Zelst-Stams, Richarda M. de Voer, Marjolijn J.L. Ligtenberg, Charlotte J. Dommering, Nicoline Hoogerbrugge, Mirjam M. de Jong, Fonnet E. Bleeker, Edward M. Leter, Tom G.W. Letteboer, Maartje Nielsen, Rachel S. van der Post, Brigit Wapstra
Publikováno v:
Dutch LS-Like Study Group 2021, ' Somatic Nonepigenetic Mismatch Repair Gene Aberrations Underly Most Mismatch Repair–Deficient Lynch-Like Tumors ', Gastroenterology, vol. 160, no. 4, pp. 1414-1416.e3 . https://doi.org/10.1053/j.gastro.2020.11.042
Gastroenterology, 160, 4, pp. 1414-1416.e3
Gastroenterology, 160, 1414-1416.e3
Gastroenterology, 160, 4, pp. 1414-1416.e3
Gastroenterology, 160, 1414-1416.e3
Contains fulltext : 231707.pdf (Publisher’s version ) (Open Access)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a6d37d7fca938eb321ef59c4b32d4d3
https://research.vumc.nl/en/publications/37d763d2-9179-46a1-8ab4-5da52167446c
https://research.vumc.nl/en/publications/37d763d2-9179-46a1-8ab4-5da52167446c
Autor:
Stephanie A. Schubert, Eli Pikarsky, Miriam Cuatrecasas, Maartje Nielsen, Mariano Golubicki, José G. Acuña-Ochoa, Daniel Cisterna, Yael Goldberg, Marina Antelo, Enrique Roca, Sergi Castellví-Bel, Jenifer Muñoz, Juan Robbio, Soledad Iseas, Teresa Ocaña, Marcos Díaz-Gay, Tom van Wezel, Guillermo Mendez, Antoni Castells, Laia Bonjoch, Francesc Balaguer
Publikováno v:
JCI Insight, 5(18). AMER SOC CLINICAL INVESTIGATION INC
JCI Insight
JCI Insight, Vol 5, Iss 18 (2020)
JCI Insight
JCI Insight, Vol 5, Iss 18 (2020)
Lynch syndrome is the most common cause of hereditary colorectal cancer (CRC), and it is characterized by DNA mismatch repair (MMR) deficiency. The term Lynch-like syndrome (LLS) is used for patients with MMR-deficient tumors and neither germline mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4de1f839e3e684ffd288fe97e9e8883a
https://insight.jci.org/articles/view/140698
https://insight.jci.org/articles/view/140698
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome
Autor:
Inbal Kedar, Christi J. van Asperen, Jeanine J. Houwing-Duistermaat, Laurence Brugières, Sergey Nikolaev, Michael Farrell, Anja Wagner, D. Gareth Evans, Lone Sunde, Yael Goldberg, Mar Rodríguez-Girondo, Jessica I. Hoell, Katharina Wimmer, Karl Heinimann, Stefan Aretz, Maartje Nielsen, Heleen M. van der Klift, Maria Grazia Tibiletti, Tim Ripperger, Leigha Senter, Sanne W. ten Broeke, Wenche Sjursen, Encarna B. Gomez-Garcia, Stefanie Y. Zimmermann, Daniel Rueda, Marjolijn C.J. Jongmans, Noémie Lavoine, Ingrid Winship, Christina Therkildsen, Gabriel Capellá Munar, Chrystelle Colas, Alison H. Trainer, Kory Jasperson, Maurizio Genuardi, Theo A. M. van Os, Yvonne J. Vos, Mitul Modi, Hans F. A. Vasen, Manon Suerink
Publikováno v:
Suerink, M, Rodríguez-Girondo, M, van der Klift, H M, Colas, C, Brugieres, L, Lavoine, N, Jongmans, M, Munar, G C, Evans, D G, Farrell, M P, Genuardi, M, Goldberg, Y, Gomez-Garcia, E, Heinimann, K, Hoell, J I, Aretz, S, Jasperson, K W, Kedar, I, Modi, M B, Nikolaev, S, van Os, T A M, Ripperger, T, Rueda, D, Senter, L, Sjursen, W, Sunde, L, Therkildsen, C, Tibiletti, M G, Trainer, A H, Vos, Y J, Wagner, A, Winship, I, Wimmer, K, Zimmermann, S Y, Vasen, H F, van Asperen, C J, Houwing-Duistermaat, J J, Ten Broeke, S W & Nielsen, M 2019, ' An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome ', Genetics in Medicine, vol. 21, no. 12, pp. 2706-2712 . https://doi.org/10.1038/s41436-019-0577-z
Evans, D G & et al. 2019, ' An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0577-z
Genetics in Medicine
Genetics in Medicine, 21, 2706. Lippincott Williams and Wilkins
Genetics in Medicine, 21(12), 2706-2712. Nature Publishing Group
Genetics in medicine. Lippincott Williams and Wilkins
Genetics in Medicine, 21(12), 2706-2712. Lippincott Williams & Wilkins
Genetics in Medicine, 21(12), 2706-2712
Evans, D G & et al. 2019, ' An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0577-z
Genetics in Medicine
Genetics in Medicine, 21, 2706. Lippincott Williams and Wilkins
Genetics in Medicine, 21(12), 2706-2712. Nature Publishing Group
Genetics in medicine. Lippincott Williams and Wilkins
Genetics in Medicine, 21(12), 2706-2712. Lippincott Williams & Wilkins
Genetics in Medicine, 21(12), 2706-2712
Purpose: Biallelic pathogenic variants in the mismatch repair (MMR) genes cause a recessive childhood cancer predisposition syndrome known as constitutional mismatch repair deficiency (CMMRD). Family members with a heterozygous MMR variant have Lynch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77776c64c226d28d2628f88134704b43
https://pure.au.dk/portal/da/publications/an-alternative-approach-to-establishing-unbiased-colorectal-cancer-risk-estimation-in-lynch-syndrome(44d3cbe1-e2d3-43cf-a924-6d04a2831e62).html
https://pure.au.dk/portal/da/publications/an-alternative-approach-to-establishing-unbiased-colorectal-cancer-risk-estimation-in-lynch-syndrome(44d3cbe1-e2d3-43cf-a924-6d04a2831e62).html
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:
Ronald van Eijk, Astrid Baalbergen, Maartje Nielsen, Marjolein J. Kagie, Nienke van der Stoep, Tom van Wezel, Judith R. Kroep, Vincent T.H.B.M. Smit, Marthe M de Jonge, Monique E. M. M. Bos, Tjalling Bosse, Christi J. van Asperen, Dina Ruano, Natalja T. ter Haar, Juul T. Wijnen, Maaike P.G. Vreeswijk, Katja N. Gaarenstroom
Publikováno v:
The Journal of Molecular Diagnostics
Journal of Molecular Diagnostics, 20(5), 600-611. Elsevier Inc.
The Journal of Molecular Diagnostics, 20(5), 600-611
Journal of Molecular Diagnostics, 20(5), 600-611. Elsevier Inc.
The Journal of Molecular Diagnostics, 20(5), 600-611
BRCA1/2 variant analysis in tumor tissue could streamline the referral of patients with epithelial ovarian, fallopian tube, or primary peritoneal cancer to genetic counselors and select patients who benefit most from targeted treatment. We investigat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::267686b8dd86bae04ed5cdc8e54239dd
https://doi.org/10.1016/j.jmoldx.2018.05.005
https://doi.org/10.1016/j.jmoldx.2018.05.005
Publikováno v:
Gastroenterology
Autor:
Olaf M. Dekkers, B. Redeker, Liesbeth Spruijt, Fred H. Menko, Gabriel Capellá Munar, Annika Lindblom, Sanne W. ten Broeke, Pål Møller, Frederik J. Hes, Arjen Mensenkamp, Carli M. J. Tops, Manon Suerink, Juul T. Wijnen, Yvonne J. Vos, Nils Rahner, Anja Wagner, Inge Bernstein, Hans F. A. Vasen, Maran Olderode, Tom G.W. Letteboer, Theo A. M. van Os, Hans Morreau, Encarna B. Gomez Garcia, Heleen M. van der Klift, Nicoline Hoogerbrugge, Maartje Nielsen
Publikováno v:
Genetics in medicine, 18(4), 405-409. Lippincott Williams and Wilkins
Genetics in Medicine, 18, 405-9
Genetics in Medicine, 18(4), 405-409. Nature Publishing Group
Genetics in Medicine, 18(4), 405-9. Lippincott Williams and Wilkins
Suerink, M, van der Klift, H M, Ten Broeke, S W, Dekkers, O M, Bernstein, I, Capellá Munar, G, Gomez Garcia, E, Hoogerbrugge, N, Letteboer, T G W, Menko, F H, Lindblom, A, Mensenkamp, A R, Moller, P, van Os, T A, Rahner, N, Redeker, B J W, Olderode-Berends, M J W, Olderode, M, Spruijt, L, Vos, Y J, Wagner, A, Morreau, H, Hes, F J, Vasen, H F A, Tops, C M, Wijnen, J T & Nielsen, M 2016, ' The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers ', Genetics in Medicine, vol. 18, no. 4, pp. 405-9 . https://doi.org/10.1038/gim.2015.83
Genetics in Medicine, 18(4), 405-409. Lippincott Williams & Wilkins
Genetics in Medicine, 18(4), 405–409. Lippincott Williams and Wilkins
Genetics in Medicine, 18, 4, pp. 405-9
Genetics in Medicine, 18(4), 405-409
Suerink, M, van der Klift, H M, Ten Broeke, S W, Dekkers, O M, Bernstein, I, Capellá Munar, G, Gomez Garcia, E, Hoogerbrugge, N, Letteboer, T G W, Menko, F H, Lindblom, A, Mensenkamp, A, Moller, P, van Os, T A, Rahner, N, Redeker, B J W, Olderode, M, Spruijt, L, Vos, Y J, Wagner, A, Morreau, H, Hes, F J, Vasen, H F A, Tops, C M, Wijnen, J T & Nielsen, M 2016, ' The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers ', Genetics in Medicine, vol. 18, no. 4, pp. 405-409 . https://doi.org/10.1038/gim.2015.83
Genetics in Medicine, 18, 405-9
Genetics in Medicine, 18(4), 405-409. Nature Publishing Group
Genetics in Medicine, 18(4), 405-9. Lippincott Williams and Wilkins
Suerink, M, van der Klift, H M, Ten Broeke, S W, Dekkers, O M, Bernstein, I, Capellá Munar, G, Gomez Garcia, E, Hoogerbrugge, N, Letteboer, T G W, Menko, F H, Lindblom, A, Mensenkamp, A R, Moller, P, van Os, T A, Rahner, N, Redeker, B J W, Olderode-Berends, M J W, Olderode, M, Spruijt, L, Vos, Y J, Wagner, A, Morreau, H, Hes, F J, Vasen, H F A, Tops, C M, Wijnen, J T & Nielsen, M 2016, ' The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers ', Genetics in Medicine, vol. 18, no. 4, pp. 405-9 . https://doi.org/10.1038/gim.2015.83
Genetics in Medicine, 18(4), 405-409. Lippincott Williams & Wilkins
Genetics in Medicine, 18(4), 405–409. Lippincott Williams and Wilkins
Genetics in Medicine, 18, 4, pp. 405-9
Genetics in Medicine, 18(4), 405-409
Suerink, M, van der Klift, H M, Ten Broeke, S W, Dekkers, O M, Bernstein, I, Capellá Munar, G, Gomez Garcia, E, Hoogerbrugge, N, Letteboer, T G W, Menko, F H, Lindblom, A, Mensenkamp, A, Moller, P, van Os, T A, Rahner, N, Redeker, B J W, Olderode, M, Spruijt, L, Vos, Y J, Wagner, A, Morreau, H, Hes, F J, Vasen, H F A, Tops, C M, Wijnen, J T & Nielsen, M 2016, ' The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers ', Genetics in Medicine, vol. 18, no. 4, pp. 405-409 . https://doi.org/10.1038/gim.2015.83
PURPOSE: Lynch syndrome (LS), a heritable disorder with an increased risk of primarily colorectal cancer (CRC) and endometrial cancer (EC), can be caused by mutations in the PMS2 gene. We wished to establish whether genotype and/or parent-of-origin e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::521489cadcda93ac80529b36e2c39a3d
https://pure.amc.nl/en/publications/the-effect-of-genotypes-and-parent-of-origin-on-cancer-risk-and-age-of-cancer-development-in-pms2-mutation-carriers(1390b549-1f43-475c-b72d-b0f52c6b3cec).html
https://pure.amc.nl/en/publications/the-effect-of-genotypes-and-parent-of-origin-on-cancer-risk-and-age-of-cancer-development-in-pms2-mutation-carriers(1390b549-1f43-475c-b72d-b0f52c6b3cec).html
Autor:
Sanne W. ten Broeke, Maartje Nielsen
Publikováno v:
Genetics in Medicine, 17(8), 684-684
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da945627a5be48e6bc9613c95a0d02c9
http://hdl.handle.net/1887/100002
http://hdl.handle.net/1887/100002