Biogeomorphic modeling to assess the resilience of tidal-marsh restoration to sea level rise and sediment supply

Autor: O. Gourgue, J. van Belzen, C. Schwarz, W. Vandenbruwaene, J. Vanlede, J.-P. Belliard, S. Fagherazzi, T. J. Bouma, J. van de Koppel, S. Temmerman

Publikováno v: Earth Surface Dynamics, Vol 10, Pp 531-553 (2022)

There is an increasing demand for the creation and restoration of tidal marshes around the world, as they provide highly valued ecosystem services. Yet restored tidal marshes are strongly vulnerable to factors such as sea level rise and declining sed

Externí odkaz: https://doaj.org/article/8885e642b878424aba259f7ae18c5517

Data from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

Autor: Marjolijn C. Jongmans, Nicoline Hoogerbrugge, Roland P. Kuiper, Arjen R. Mensenkamp, Anja Wagner, Jan Loeffen, Eveline S. de Bont, Thatjana Gardeitchik, Anneke Vulto- van Silfhout, Denisa Ilencikova, Wojciech Mlynarski, Agata Pastorczak, Antonis Kattamis, Elizabeth Thompson, Lesley McGregor, Dylan Mordaunt, Martine J. van Belzen, Gijs W. Santen, Carlo Marcelis, David A. Koolen, Erica H. Gerkes, Maran J. Olderode-Berends, Saskia Hopman, Peter M. Hoogerbrugge, Eveline J. Kamping, Diede A.G. van Bladel, Marjolijn J. Ligtenberg, Esmé Waanders, Illja J. Diets

Purpose: In many children with cancer and characteristics suggestive of a genetic predisposition syndrome, the genetic cause is still unknown. We studied the yield of pathogenic mutations by applying whole-exome sequencing on a selected cohort of chi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90f431a2e10cdf167bf9c0be1b4039cd
https://doi.org/10.1158/1078-0432.c.6526064.v1

Supplementary Appendix 2 from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

Autor: Marjolijn C. Jongmans, Nicoline Hoogerbrugge, Roland P. Kuiper, Arjen R. Mensenkamp, Anja Wagner, Jan Loeffen, Eveline S. de Bont, Thatjana Gardeitchik, Anneke Vulto- van Silfhout, Denisa Ilencikova, Wojciech Mlynarski, Agata Pastorczak, Antonis Kattamis, Elizabeth Thompson, Lesley McGregor, Dylan Mordaunt, Martine J. van Belzen, Gijs W. Santen, Carlo Marcelis, David A. Koolen, Erica H. Gerkes, Maran J. Olderode-Berends, Saskia Hopman, Peter M. Hoogerbrugge, Eveline J. Kamping, Diede A.G. van Bladel, Marjolijn J. Ligtenberg, Esmé Waanders, Illja J. Diets

This file contains all mutations identified in all patients.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::581dec458c7abe6bfbc9960a381a2b07
https://doi.org/10.1158/1078-0432.22465565.v1

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Benign and malignant tumors in Rubinstein-Taybi syndrome

Autor: Max V. Boot, Matias Mendeville, Quinten Waisfisz, Pieter Wesseling, Nathalie J. Hijmering, Daphne de Jong, Martine J. van Belzen, Raoul C.M. Hennekam, Lucy I. H. Overbeek

Publikováno v: American Journal of Medical Genetics. Part a
American Journal of Medical Genetics Part A, 176(3), 597-608. Wiley-Liss Inc.
American journal of medical genetics. Part A, 176(3), 597-608. Wiley-Liss Inc.
Boot, M V, van Belzen, M J, Overbeek, L I, Hijmering, N, Mendeville, M, Waisfisz, Q, Wesseling, P, Hennekam, R C & de Jong, D 2018, ' Benign and malignant tumors in Rubinstein-Taybi syndrome ', American Journal of Medical Genetics Part A, vol. 176, no. 3, pp. 597-608 . https://doi.org/10.1002/ajmg.a.38603

Rubinstein–Taybi syndrome (RSTS) is a multiple congenital anomalies syndrome associated with mutations in CREBBP (70%) and EP300 (5–10%). Previous reports have suggested an increased incidence of specific benign and possibly also malignant tumors

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a757a7fbdde6c273b40e311da744b3a9
https://doi.org/10.1002/ajmg.a.38603