Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

Autor: I. M. Krzyzewska, M. Alders, S. M. Maas, J. Bliek, A. Venema, P. Henneman, F. I. Rezwan, K. v. d. Lip, A. N. Mul, D. J. G. Mackay, M. M. A. M. Mannens

Publikováno v: Clinical Epigenetics, Vol 11, Iss 1, Pp 1-12 (2019)

Abstract Beckwith-Wiedemann syndrome (BWS) is caused due to the disturbance of imprinted genes at chromosome 11p15. The molecular confirmation of this syndrome is possible in approximately 85% of the cases, whereas in the remaining 15% of the cases,

Externí odkaz: https://doaj.org/article/fa8f28f5a2ba43c49cc74196ed5d7842

Von Willebrand disease type 2M: Correlation between genotype and phenotype

Autor: Annet Simons, Paul P. T. Brons, Frank W.G. Leebeek, Daniëlle Meijer, Selene C M Schoormans, Britta A P Laros-van Gorkom, Waander L. van Heerde, Sandy Krouwel, Laurens Nieuwenhuizen, Dominique P M S M Maas, Nicole M. A. Blijlevens, Saskia E M Schols, Ferdows Atiq

Publikováno v: Journal of Thrombosis and Haemostasis, 20(2), 316-327. Wiley-Blackwell Publishing Ltd
Journal of Thrombosis and Haemostasis, 20, 2, pp. 316-327
Journal of Thrombosis and Haemostasis, 20, 316-327

Contains fulltext : 248232.pdf (Publisher’s version ) (Open Access) BACKGROUND: An appropriate clinical diagnosis of von Willebrand disease (VWD) can be challenging because of a variable bleeding pattern and laboratory phenotype. Genotyping is a po

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69cc08c282316528b8364c12e641bfea
https://pure.eur.nl/en/publications/ddb294bc-b7d6-4300-b9b9-372b6bb0b800

[Temporary suspension of AstraZeneca's vaccine; a reconstruction]

Autor: D P M S M, Maas, C, Kramers, H J C A, Smit, S, Middeldorp, I, Helsloot

Publikováno v: Nederlands tijdschrift voor geneeskunde. 165

In the middle of the worldwide COVID-19 crisis, the whole of Europe was alarmed about a possible side effect of the AstraZeneca vaccine against COVID-19. Consequently, the use of this AstraZeneca vaccine was temporarily suspended in many European nat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4dec5406c3017e6ec73dd35e978bb2e4
https://pubmed.ncbi.nlm.nih.gov/33914428

Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?

Autor: J M Hoovers, Raoul C.M. Hennekam, S M Maas, M E van Seggelen, D M Menzel

Publikováno v: Clinical dysmorphology, 9(1), 47-53. Lippincott Williams and Wilkins

We report on a boy with an interstitial deletion of the long arm of chromosome 2 with breakpoints in chromosome bands q23 and q24.3. Main features were low-set and malformed ears, digital anomalies and congenital heart defects, which have also been r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d461a9abf8883a47b74039ea647bbbe
https://doi.org/10.1097/00019605-200009010-00010

Brucellosis in household members of Brucella patients residing in a large urban setting in Peru

Autor: Marjorie, Mendoza-Núñez, Maximilian, Mulder, María Pía, Franco, Kathlène S J S M, Maas, Maria L, Castañeda, Nilo, Bonifacio, Jesús, Chacaltana, Elena, Yagui, Robert H, Gilman, Benjamin, Espinosa, David, Blazes, Eric, Hall, Theresia H, Abdoel, Henk L, Smits, Milagros, Zavaleta

Publikováno v: The American journal of tropical medicine and hygiene. 78(4)

During home visits and using a point-of-care test for brucellosis, we screened the household members of adult patients found to have brucellosis by investigation at the Hospital Nacional Daniel Alcides Carrión in Callao, Peru. A total of 206 househo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::16b2d1fb6105b9e9f3db472e23f53425
https://pubmed.ncbi.nlm.nih.gov/18385354