Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Henk P. J. Buermans"'
Autor:
Janine E. Melsen, Gertjan Lugthart, Carly Vervat, Szymon M. Kielbasa, Sander A. J. van der Zeeuw, Henk P. J. Buermans, Monique M. van Ostaijen-ten Dam, Arjan C. Lankester, Marco W. Schilham
Publikováno v:
Frontiers in Immunology, Vol 9 (2018)
Human lymphoid tissues harbor, in addition to CD56bright and CD56dim natural killer (NK) cells, a third NK cell population: CD69+CXCR6+ lymphoid tissue (lt)NK cells. The function and development of ltNK cells remain poorly understood. In this study,
Externí odkaz:
https://doaj.org/article/2ca12db5370f4d2dbef63454458238cd
Autor:
Laure Grand Moursel, Willeke M. C. van Roon-Mom, Szymon M. Kiełbasa, Hailiang Mei, Henk P. J. Buermans, Linda M. van der Graaf, Kristina M. Hettne, Emile J. de Meijer, Sjoerd G. van Duinen, Jeroen F. J. Laros, Mark A. van Buchem, Peter A. C. ‘t Hoen, Silvère M. van der Maarel, Louise van der Weerd
Publikováno v:
Frontiers in Aging Neuroscience, Vol 10 (2018)
Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D) is an early onset hereditary form of cerebral amyloid angiopathy (CAA) caused by a point mutation resulting in an amino acid change (NP_000475.1:p.Glu693Gln) in the amyloid precurso
Externí odkaz:
https://doaj.org/article/bb384dd1bf644b69bf85798bd6d2e5e9
Autor:
V L Romanelli Tavares, Y Zhou, D Moreira, Renato da Silva Freitas, J den Dunnen, S Guimarães-Ramos, Stephen R.F. Twigg, Suzana A. M. Ezquina, Cibele Masotti, Maria Rita Passos-Bueno, Henk P. J. Buermans
Publikováno v:
Journal of Medical Genetics. BMJ PUBLISHING GROUP
Journal of Medical Genetics
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Journal of Medical Genetics
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Funder: VTCT Foundation Fellowship
BACKGROUND: Auriculocondylar syndrome (ARCND) is a rare genetic disease that affects structures derived from the first and second pharyngeal arches, mainly resulting in micrognathia and auricular malformations.
BACKGROUND: Auriculocondylar syndrome (ARCND) is a rare genetic disease that affects structures derived from the first and second pharyngeal arches, mainly resulting in micrognathia and auricular malformations.
Autor:
Cornelis L. Harteveld, Stefan J. White, Emile de Meijer, Henk P. J. Buermans, Quint P Hottentot
Publikováno v:
International Journal of Laboratory Hematology, 43(6), 1628-1634. WILEY
Introduction The high-sequence homology of the α-globin-gene cluster is responsible for microhomology-mediated recombination events during meiosis, resulting in a high density of deletion breakpoints within a 10 kb region. Commonly used deletion det
Autor:
Silvère M. van der Maarel, Mark T. Rogers, Nicol C. Voermans, Robin van Schendel, M. Jeanpierre, Meena Upadhyaya, Pascal Laforêt, David San Leon Granado, Sabrina Sacconi, Rabi Tawil, Nienke van der Stoep, Marianne de Visser, Patrick J. van der Vliet, Baziel G.M. van Engelen, Henk P. J. Buermans, Joost Schimmel, Rudy Van Coster, Richard J.L.F. Lemmers
Publikováno v:
Human Molecular Genetics, 31, 748-760
Human Molecular Genetics, 31(5), 748-760. OXFORD UNIV PRESS
Hum Mol Genet
Human Molecular Genetics, 31, 5, pp. 748-760
Human molecular genetics, 31(5), 748-760. Oxford University Press
Human Molecular Genetics, 31(5), 748-760. OXFORD UNIV PRESS
Hum Mol Genet
Human Molecular Genetics, 31, 5, pp. 748-760
Human molecular genetics, 31(5), 748-760. Oxford University Press
Contains fulltext : 248862.pdf (Publisher’s version ) (Closed access) Facioscapulohumeral muscular dystrophy (FSHD) is an inherited myopathy clinically characterized by weakness in the facial, shoulder girdle and upper a muscles. FSHD is caused by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d238fc435cb03345cb58f5fab0546aa
http://hdl.handle.net/2066/248862
http://hdl.handle.net/2066/248862
Autor:
Quint P, Hottentot, Emile, de Meijer, Henk P J, Buermans, Stefan J, White, Cornelis L, Harteveld
Publikováno v:
International journal of laboratory hematology. 43(6)
The high-sequence homology of the α-globin-gene cluster is responsible for microhomology-mediated recombination events during meiosis, resulting in a high density of deletion breakpoints within a 10 kb region. Commonly used deletion detection method
Autor:
Rosemarie H M J M Kroon, Hailiang Mei, Szymon M. Kielbasa, Muhammad Riaz, Corinne G.C. Horlings, Vered Raz, Johanna G. Kalf, Bert J. M. de Swart, Henk P. J. Buermans, Baziel G.M. van Engelen, Saskia Lassche, Pradeep Harish, John Vissing
Publikováno v:
International Journal of Molecular Sciences, 21
International Journal of Molecular Sciences, 21(17). MDPI
International Journal of Molecular Sciences, Vol 21, Iss 6059, p 6059 (2020)
Raz, V, Kroon, R H M J M, Mei, H, Riaz, M, Buermans, H, Lassche, S, Horlings, C, De Swart, B, Kalf, J, Harish, P, Vissing, J, Kielbasa, S & van Engelen, B G M 2020, ' Age-associated salivary microRNA biomarkers for oculopharyngeal muscular dystrophy ', International Journal of Molecular Sciences, vol. 21, no. 17, 6059, pp. 1-15 . https://doi.org/10.3390/ijms21176059
International Journal of Molecular Sciences, 21, 17
International Journal of Molecular Sciences
Volume 21
Issue 17
International Journal of Molecular Sciences, 21(17). MDPI
International Journal of Molecular Sciences, Vol 21, Iss 6059, p 6059 (2020)
Raz, V, Kroon, R H M J M, Mei, H, Riaz, M, Buermans, H, Lassche, S, Horlings, C, De Swart, B, Kalf, J, Harish, P, Vissing, J, Kielbasa, S & van Engelen, B G M 2020, ' Age-associated salivary microRNA biomarkers for oculopharyngeal muscular dystrophy ', International Journal of Molecular Sciences, vol. 21, no. 17, 6059, pp. 1-15 . https://doi.org/10.3390/ijms21176059
International Journal of Molecular Sciences, 21, 17
International Journal of Molecular Sciences
Volume 21
Issue 17
Small non-coding microRNAs (miRNAs) are involved in the regulation of mRNA stability. Their features, including high stability and secretion to biofluids, make them attractive as potential biomarkers for diverse pathologies. This is the first study r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::282acbf1e4679b2cc7814a0dffb677d1
http://hdl.handle.net/2066/224621
http://hdl.handle.net/2066/224621
Autor:
Seyed Yahya Anvar, Henk P. J. Buermans, Henk-Jan Guchelaar, Rolf H. A. M. Vossen, Johan T. den Dunnen, William G. Allard, Tahar van der Straaten, Stefan J. White, Jesse J. Swen
Publikováno v:
Human Mutation
Human Mutation, 38(3), 310-316
Human Mutation, 38(3), 310-316
Cytochrome P450 2D6 (CYP2D6) is among the most important genes involved in drug metabolism. Specific variants are associated with changes in the enzyme's amount and activity. Multiple technologies exist to determine these variants, like the AmpliChip
Autor:
Peter de Knijff, Emile de Meijer, Rosemarie H M J M Kroon, Henk P. J. Buermans, Vered Raz, Rick H. de Leeuw, Dominique Garnier, Baziel G.M. van Engelen, Corinne G.C. Horlings
Publikováno v:
European Journal of Human Genetics, 27, 3, pp. 400-407
European Journal of Human Genetics
European Journal of Human Genetics, 27(3), 400-407. NATURE PUBLISHING GROUP
European Journal of Human Genetics, 27, 400-407
European Journal of Human Genetics
European Journal of Human Genetics, 27(3), 400-407. NATURE PUBLISHING GROUP
European Journal of Human Genetics, 27, 400-407
Short tandem repeats (STRs) are scattered throughout the human genome. Some STRs, like trinucleotide repeat expansion (TRE) variants, cause hereditable disorders. Unambiguous molecular diagnostics of TRE disorders is hampered by current technical lim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e57edf60a5792cbf9ebd466a64efa109
https://hdl.handle.net/1887/122255
https://hdl.handle.net/1887/122255
Autor:
Monique M. van Ostaijen-ten Dam, Szymon M. Kielbasa, Janine E. Melsen, Henk P. J. Buermans, Gertjan Lugthart, Arjan C. Lankester, Sander A.J. van der Zeeuw, Marco W. Schilham, Carly Vervat
Publikováno v:
Frontiers in Immunology
Frontiers in Immunology, 9
Frontiers in Immunology, Vol 9 (2018)
Frontiers in Immunology, 9
Frontiers in Immunology, Vol 9 (2018)
Human lymphoid tissues harbor, in addition to CD56bright and CD56dim natural killer (NK) cells, a third NK cell population: CD69+CXCR6+ lymphoid tissue (lt)NK cells. The function and development of ltNK cells remain poorly understood. In this study,