Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Sigrid M.A Swagemakers"'
Autor:
Peter A. Sillevis Smitt, Martin J. van den Bent, Johan M. Kros, Theo M. Luider, Peter van der Spek, Eric Brouwer, Mathilde C.M. Kouwenhoven, Jord H.A. Nagel, Sigrid M.A. Swagemakers, Pim J. French
Supplementary Tables 1-2 from Gene Expression Profiles Associated with Treatment Response in Oligodendrogliomas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f316d951a23f941ba8440f1085545be
https://doi.org/10.1158/0008-5472.22364399.v1
https://doi.org/10.1158/0008-5472.22364399.v1
Autor:
Peter A. Sillevis Smitt, Martin J. van den Bent, Johan M. Kros, Theo M. Luider, Peter van der Spek, Eric Brouwer, Mathilde C.M. Kouwenhoven, Jord H.A. Nagel, Sigrid M.A. Swagemakers, Pim J. French
Supplementary Table 3 from Gene Expression Profiles Associated with Treatment Response in Oligodendrogliomas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17c3b93b06ab16121e649ba11560bfbe
https://doi.org/10.1158/0008-5472.22364402.v1
https://doi.org/10.1158/0008-5472.22364402.v1
Autor:
Peter A. Sillevis Smitt, Martin J. van den Bent, Johan M. Kros, Theo M. Luider, Peter van der Spek, Eric Brouwer, Mathilde C.M. Kouwenhoven, Jord H.A. Nagel, Sigrid M.A. Swagemakers, Pim J. French
Oligodendrogliomas are a specific subtype of brain tumor of which the majority responds favorably to chemotherapy. In this study, we made use of expression profiling to identify chemosensitive oligodendroglial tumors. Correlation of expression profil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1316b100548805ed5ea3ffe2c9a21d99
https://doi.org/10.1158/0008-5472.c.6494174
https://doi.org/10.1158/0008-5472.c.6494174
Autor:
Zijun Zhou, Sigrid M.A Swagemakers, Mirthe S. Lourens, Narissara Suratannon, Peter J. van der Spek, Virgil A.S.H. Dalm, Willem A. Dik, Hanna IJspeert, P. Martin van Hagen
Neanderthals were a species of archaic human that became extinct around 40,000 years ago. Modern humans have inherited 1-6% of Neanderthal DNA as a result of interbreeding with the Neanderthals. These inherited Neanderthal genes have paradoxical infl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d97077d6df178446f3f950b4f9a80332
https://doi.org/10.1101/2022.10.19.512108
https://doi.org/10.1101/2022.10.19.512108
Autor:
Donata Orioli, Maria Accadia, Anja Raams, Sarah Giachetti, Sigrid M.A. Swagemakers, Wim Vermeulen, Dhanya Yesodharan, Arjan F. Theil, Giuseppina Caligiuri, Elena Botta, Alan R. Lehmann, Desirée E.C. Smith, Tomoo Ogi, Marisa I. Mendes, Sheela Nampoothiri, Silvia Bione, Gajja S. Salomons, Anita Lombardi, Peter J. van der Spek, Jan H.J. Hoeijmakers
Publikováno v:
Human Molecular Genetics, 30(18), 1711-1720. Oxford University Press
Botta, E, Theil, A F, Raams, A, Caligiuri, G, Giachetti, S, Bione, S, Accadia, M, Lombardi, A, Smith, D E C, Mendes, M I, Swagemakers, S M A, van der Spek, P J, Salomons, G S, Hoeijmakers, J H J, Yesodharan, D, Nampoothiri, S, Ogi, T, Lehmann, A R, Orioli, D & Vermeulen, W 2021, ' Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy ', Human Molecular Genetics, vol. 30, no. 18, pp. 1711-1720 . https://doi.org/10.1093/hmg/ddab123
Human molecular genetics, 30(18), 1711-1720. Oxford University Press
Human Molecular Genetics
Botta, E, Theil, A F, Raams, A, Caligiuri, G, Giachetti, S, Bione, S, Accadia, M, Lombardi, A, Smith, D E C, Mendes, M I, Swagemakers, S M A, van der Spek, P J, Salomons, G S, Hoeijmakers, J H J, Yesodharan, D, Nampoothiri, S, Ogi, T, Lehmann, A R, Orioli, D & Vermeulen, W 2021, ' Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy ', Human Molecular Genetics, vol. 30, no. 18, pp. 1711-1720 . https://doi.org/10.1093/hmg/ddab123
Human molecular genetics, 30(18), 1711-1720. Oxford University Press
Human Molecular Genetics
Trichothiodystrophy (TTD) is a rare hereditary neurodevelopmental disorder defined by sulfur-deficient brittle hair and nails and scaly skin, but with otherwise remarkably variable clinical features. The photosensitive TTD (PS-TTD) forms exhibits in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b80ac1532350b23f224d8cc845fca680
http://www.scopus.com/inward/record.url?scp=85115957950&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85115957950&partnerID=8YFLogxK
Autor:
Narissara Suratannon, Chupong Ittiwut, Willem A. Dik, Rungnapa Ittiwut, Kornvalee Meesilpavikkai, Nipan Israsena, Praewphan Ingrungruanglert, Virgil A.S. H. Dalm, Paul L.A. van Daele, Anapat Sanpavat, Nataruks Chaijitraruch, Benjamin Schrijver, Supranee Buranapraditkun, Thantrira Porntaveetus, Sigrid M.A. Swagemakers, Hanna IJspeert, Tanapat Palaga, Kanya Suphapeetiporn, Peter J. van der Spek, Nattiya Hirankarn, Pantipa Chatchatee, P. Martin van Hagen, Vorasuk Shotelersuk
Publikováno v:
Journal of Allergy and Clinical Immunology, 151(2), 565-571.e9. Mosby Inc.
Background: The signal transducer and activator of transcription 6 (STAT6) signaling pathway plays a central role in allergic inflammation. To date, however, there have been no descriptions of STAT6 gain-of-function variants leading to allergies in h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::382946121e31fe76c7d1b5d3f58173ae
http://www.scopus.com/inward/record.url?scp=85142330632&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85142330632&partnerID=8YFLogxK
Autor:
Allard R. J. V. Vossen, J E M M de Klein, P. J. van der Spek, Andrew P. Stubbs, Deon J. Venter, K R van Straalen, H.H. van der Zee, Sigrid M.A. Swagemakers, Errol P. Prens
Publikováno v:
Journal of the European Academy of Dermatology and Venereology
Journal of the European Academy of Dermatology and Venereology, 34(10), 2353-2361. Wiley-Blackwell
Journal of the European Academy of Dermatology and Venereology, 34(10), 2353-2361. Wiley-Blackwell
Background Mutations in the γ‐secretase enzyme subunits have been described in multiple kindreds with familial hidradenitis suppurativa (HS). Objective In this study, we report a novel nicastrin (NCSTN) mutation causing HS in a Dutch family. We so
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53a4cd94943e3f912b9b6dacea88cf88
https://pubmed.ncbi.nlm.nih.gov/32078194
https://pubmed.ncbi.nlm.nih.gov/32078194
Autor:
Donata Orioli, Wim Vermeulen, Alain Sarasin, Sarah Giachetti, Silvia Bione, Jan H.J. Hoeijmakers, Anja Raams, Desirée E.C. Smith, Giuseppina Caligiuri, Marisa I. Mendes, Elena Botta, Tomoo Ogi, Arjan F. Theil, Gajja S. Salomons, Sigrid M.A. Swagemakers, Peter J. van der Spek, Luca Zardoni, Giordano Liberi, Alan R. Lehmann, Roberta Carriero
Publikováno v:
American journal of human genetics, 105(2), 434-440. Cell Press
The American Journal of Human Genetics
American Journal of Human Genetics, 105(2), 434-440. Cell Press
Theil, A F, Botta, E, Raams, A, Smith, D E C, Mendes, M I, Caligiuri, G, Giachetti, S, Bione, S, Carriero, R, Liberi, G, Zardoni, L, Swagemakers, S M A, Salomons, G S, Sarasin, A, Lehmann, A, van der Spek, P J, Ogi, T, Hoeijmakers, J H J, Vermeulen, W & Orioli, D 2019, ' Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype ', American journal of human genetics, vol. 105, no. 2, pp. 434-440 . https://doi.org/10.1016/j.ajhg.2019.06.017
The American Journal of Human Genetics
American Journal of Human Genetics, 105(2), 434-440. Cell Press
Theil, A F, Botta, E, Raams, A, Smith, D E C, Mendes, M I, Caligiuri, G, Giachetti, S, Bione, S, Carriero, R, Liberi, G, Zardoni, L, Swagemakers, S M A, Salomons, G S, Sarasin, A, Lehmann, A, van der Spek, P J, Ogi, T, Hoeijmakers, J H J, Vermeulen, W & Orioli, D 2019, ' Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype ', American journal of human genetics, vol. 105, no. 2, pp. 434-440 . https://doi.org/10.1016/j.ajhg.2019.06.017
Brittle and “tiger-tail” hair is the diagnostic hallmark of trichothiodystrophy (TTD), a rare recessive disease associated with a wide spectrum of clinical features including ichthyosis, intellectual disability, decreased fertility, and short sta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abe0636d65852d8e8df136ce912eec33
https://research.vumc.nl/en/publications/0c06edec-9ffe-44a6-b2a0-649bde87a288
https://research.vumc.nl/en/publications/0c06edec-9ffe-44a6-b2a0-649bde87a288
Autor:
Dick Tibboel, Wilfred F. J. van IJcken, Ronald R. de Krijger, Anne Boerema-de Munck, Sigrid M.A. Swagemakers, Janine F. Felix, Robbert J. Rottier, Annelies de Klein, Elisabeth M. Lodder, Rene M. H. Wijnen, Erwin Brosens, Peter J. van der Spek, Elisabeth M. de Jong, Marjon Buscop-van Kempen
Publikováno v:
PLoS ONE
PLoS ONE, 15(11 November):e0242167. Public Library of Science
PLoS One (print), 15(11 November):e0242167. Public Library of Science
PLoS ONE, Vol 15, Iss 11, p e0242167 (2020)
PLoS ONE, 15(11 November):e0242167. Public Library of Science
PLoS One (print), 15(11 November):e0242167. Public Library of Science
PLoS ONE, Vol 15, Iss 11, p e0242167 (2020)
Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are relatively frequently occurring foregut malformations. EA/TEF is thought to have a strong genetic component. Not much is known regarding the biological processes disturbed or which cell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f13be720c0d2dc702c930518e748ee66
https://doi.org/10.1371/journal.pone.0242167
https://doi.org/10.1371/journal.pone.0242167
Autor:
Giovanni Neri, Stephen G. Kahler, Katharina Steindl, Jung Hwa Choi, Jennifer Mueller, Peter J. van der Spek, Sigrid M.A. Swagemakers, Kyu Seok Hwang, Charles E. Schwartz, Patrick S. Tarpey, Jeong Im Ryu, Hyun Taek Kim, Cheol-Hee Kim, Melanie May, Richard I. Dorsky, Shannon K. Stefl, Pietro Chiurazzi, Emil Alexov, Judith H. Miles, Lynda Holloway, Cindy Skinner, Roger E. Stevenson, Tao Wang, Tejasvi Niranjan, Charles A. Williams
Publikováno v:
Human Molecular Genetics
Human molecular genetics
Human Molecular Genetics, 24(17), 4848-4861. Oxford University Press
Human molecular genetics
Human Molecular Genetics, 24(17), 4848-4861. Oxford University Press
Miles–Carpenter syndrome (MCS) was described in 1991 as an XLID syndrome with fingertip arches and contractures and mapped to proximal Xq. Patients had microcephaly, short stature, mild spasticity, thoracic scoliosis, hyperextendable MCP joints, ro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51ac7a6cccb70eee2d482b6c402715cc
https://pure.eur.nl/en/publications/4e85a164-a99e-4e27-a8c5-104050021dce
https://pure.eur.nl/en/publications/4e85a164-a99e-4e27-a8c5-104050021dce