Metabolic alterations due to IDH1 mutation in glioma: opening for therapeutic opportunities?

por N Mustafa, Dana A, Swagemakers, Sigrid M, Buise, Laura, van der Spek, Peter J, Kros, Johan M
Publicado 2014

Maternal diabetes causes developmental delay and death in early-somite mouse embryos

por Zhao, Jing, Hakvoort, Theodorus B. M., Ruijter, Jan M., Jongejan, Aldo, Koster, Jan, Swagemakers, Sigrid M. A., Sokolovic, Aleksandar, Lamers, Wouter H.
Publicado 2017

A CDC42 Stop-loss Mutation in a Patient with Relapsing Polychondritis and Autoinflammation

por van Wijck, Rogier T. A., Swagemakers, Sigrid M. A., van der Spek, Peter J., van Hagen, P. Martin, van Daele, Paul L. A.
Publicado 2022

Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome

por Visser, W. Edward, Swagemakers, Sigrid M.A., Őzgűr, Zeliha, Schot, Rachel, Verheijen, Frans W., van Ijcken, Wilfred F.J., van der Spek, Peter J., Visser, Theo J.
Publicado 2010

A New Strategy to Identify and Annotate Human RPE-Specific Gene Expression

por Booij, Judith C., ten Brink, Jacoline B., Swagemakers, Sigrid M. A., Verkerk, Annemieke J. M. H., Essing, Anke H. W., van der Spek, Peter J., Bergen, Arthur A. B.
Publicado 2010

Pollitt syndrome patients carry mutation in TTDN1

por Swagemakers, Sigrid M.A., Jaspers, Nicolaas G.J., Raams, Anja, Heijsman, Daphne, Vermeulen, Wim, Troelstra, Christine, Kremer, Andreas, Lincoln, Stephen E., Tearle, Rick, Hoeijmakers, Jan H.J., van der Spek, Peter J.
Publicado 2014

Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis

por Barrell, William B., Adel Al-Lami, Hadeel, Goos, Jacqueline A. C., Swagemakers, Sigrid M. A., van Dooren, Marieke, Torban, Elena, van der Spek, Peter J., Mathijssen, Irene M. J., Liu, Karen J.
Publicado 2021

Nuclear factor IB is downregulated in vulvar squamous cell carcinoma (VSCC): Unravelling differentially expressed genes in VSCC through gene expression dataset analysis

por Dasgupta, Shatavisha, Ewing-Graham, Patricia C., Van Den Bosch, Thierry P.P., Swagemakers, Sigrid M.A., Santegoets, Lindy A.M., Van Doorn, Helena C., Van Der Spek, Peter J., Koljenović, Senada, Van Kemenade, Folkert J.
Publicado 2021

Gene Expression Analysis of Peripheral Cells for Subclassification of Pediatric Inflammatory Bowel Disease in Remission

por van Lierop, Pieter P. E., Swagemakers, Sigrid M., de Bie, Charlotte I., Middendorp, Sabine, van Baarlen, Peter, Samsom, Janneke N., van IJcken, Wilfred F. J., Escher, Johanna C., van der Spek, Peter J., Nieuwenhuis, Edward E. S.
Publicado 2013

Whole exome sequencing of patients with varicella-zoster virus and herpes simplex virus induced acute retinal necrosis reveals rare disease-associated genetic variants

por Heinz, Johanna L., Swagemakers, Sigrid M. A., von Hofsten, Joanna, Helleberg, Marie, Thomsen, Michelle M., De Keukeleere, Kerstin, de Boer, Joke H., Ilginis, Tomas, Verjans, Georges M. G. M., van Hagen, Peter M., van der Spek, Peter J., Mogensen, Trine H.
Publicado 2023

Type 1 interferon-inducible gene expression in QuantiFERON Gold TB-positive uveitis: A tool to stratify a high versus low risk of active tuberculosis?

por La Distia Nora, Rina, Sitompul, Ratna, Bakker, Marleen, Versnel, Marjan A., Swagemakers, Sigrid M. A., van der Spek, Peter J., Susiyanti, Made, Edwar, Lukman, Sjamsoe, Soedarman, Singh, Gurmeet, Handayani, RR Diah, Rothova, Aniki, van Hagen, P. Martin, Dik, Willem A.
Publicado 2018

Combined cellular and soluble mediator analysis for improved diagnosis of vitreoretinal lymphoma

por de Hoog, Joeri, Dik, Willem A., Lu, Lucy, Heezen, Kim C., ten Berge, Josianne C., Swagemakers, Sigrid M. A., van der Spek, Peter J., van Dongen, Jacques J. M., van der Velden, Vincent H. J., Rothova, Aniki, Langerak, Anton W.
Publicado 2019

Evaluation of Immunohistochemical Markers, CK17 and SOX2, as Adjuncts to p53 for the Diagnosis of Differentiated Vulvar Intraepithelial Neoplasia (dVIN)

por Dasgupta, Shatavisha, Koljenović, Senada, van den Bosch, Thierry P. P., Swagemakers, Sigrid M. A., van der Hoeven, Nick M. A., van Marion, Ronald, van der Spek, Peter J., van Doorn, Helena C., van Kemenade, Folkert J., Ewing-Graham, Patricia C.
Publicado 2021

Exploring Differentially Methylated Genes in Vulvar Squamous Cell Carcinoma

por Dasgupta, Shatavisha, Ewing-Graham, Patricia C., Swagemakers, Sigrid M. A., van den Bosch, Thierry P. P., Atmodimedjo, Peggy N., Verbiest, Michael M. P. J., de Haan, Marit, van Doorn, Helena C., van der Spek, Peter J., Koljenović, Senada, van Kemenade, Folkert J.
Publicado 2021

Endocrine Disorders Are Prominent Clinical Features in Patients With Primary Antibody Deficiencies

por Coopmans, Eva C., Chunharojrith, Paweena, Neggers, Sebastian J. C. M. M., van der Ent, Marianne W., Swagemakers, Sigrid M. A., Hollink, Iris H., Barendregt, Barbara H., van der Spek, Peter J., van der Lely, Aart-Jan, van Hagen, P. Martin, Dalm, Virgil A. S. H.
Publicado 2019

Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue

por Theil, Arjan F, Mandemaker, Imke K, van den Akker, Emile, Swagemakers, Sigrid M A, Raams, Anja, Wüst, Tatjana, Marteijn, Jurgen A, Giltay, Jacques C, Colombijn, Richard M, Moog, Ute, Kotzaeridou, Urania, Ghazvini, Mehrnaz, von Lindern, Marieke, Hoeijmakers, Jan H J, Jaspers, Nicolaas G J, van der Spek, Peter J, Vermeulen, Wim
Publicado 2017

Impaired Vascular Contractility and Aortic Wall Degeneration in Fibulin-4 Deficient Mice: Effect of Angiotensin II Type 1 (AT(1)) Receptor Blockade

por Moltzer, Els, te Riet, Luuk, Swagemakers, Sigrid M. A., van Heijningen, Paula M., Vermeij, Marcel, van Veghel, Richard, Bouhuizen, Angelique M., van Esch, Joep H. M., Lankhorst, Stephanie, Ramnath, Natasja W. M., de Waard, Monique C., Duncker, Dirk J., van der Spek, Peter J., Rouwet, Ellen V., Danser, A. H. Jan, Essers, Jeroen
Publicado 2011

A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis

por Goos, Jacqueline A C, Vogel, Walter K, Mlcochova, Hana, Millard, Christopher J, Esfandiari, Elahe, Selman, Wisam H, Calpena, Eduardo, Koelling, Nils, Carpenter, Evan L, Swagemakers, Sigrid M A, van der Spek, Peter J, Filtz, Theresa M, Schwabe, John W R, Iwaniec, Urszula T, Mathijssen, Irene M J, Leid, Mark, Twigg, Stephen R F
Publicado 2019

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

por Botta, Elena, Theil, Arjan F, Raams, Anja, Caligiuri, Giuseppina, Giachetti, Sarah, Bione, Silvia, Accadia, Maria, Lombardi, Anita, Smith, Desiree E C, Mendes, Marisa I, Swagemakers, Sigrid M A, van der Spek, Peter J, Salomons, Gajja S, Hoeijmakers, Jan H J, Yesodharan, Dhanya, Nampoothiri, Sheela, Ogi, Tomoo, Lehmann, Alan R, Orioli, Donata, Vermeulen, Wim
Publicado 2021

Vitreous proteomics, a gateway to improved understanding and stratification of diverse uveitis aetiologies

por Schrijver, Benjamin, Kolijn, P. Martijn, ten Berge, Josianne C.E.M., Nagtzaam, Nicole M.A., van Rijswijk, Angelique L.C.T., Swagemakers, Sigrid M.A., van der Spek, Peter J., Missotten, Tom O.A.R., van Velthoven, Mirjam E.J., de Hoog, Joeri, van Hagen, P. Martin, Langerak, Anton W., Dik, Willem A.
Publicado 2021