Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder
Meuwissen, Marije, Verstraeten, Aline, Ranza, Emmanuelle, Iwaszkiewicz, Justyna, Bastiaansen, Maaike, Mateiu, Ligia, Nemegeer, Merlijn, Meester, Josephina A.N., Afenjar, Alexandra, Amaral, Michelle, Ballhausen, Diana, Barnett, Sarah, Barth, Magalie, Asselbergh, Bob, Spaas, Katrien, Heeman, Bavo, Bassetti, Jennifer, Blackburn, Patrick, Schaer, Marie, Blanc, Xavier, Zoete, Vincent, Casas, Kari, Courtin, Thomas, Doummar, Diane, Guerry, Frédéric, Keren, Boris, Pappas, John, Rabin, Rachel, Begtrup, Amber, Shinawi, Marwan, Vulto-van Silfhout, Anneke T., Kleefstra, Tjitske, Wagner, Matias, Ziegler, Alban, Schaefer, Elise, Gerard, Benedicte, De Bie, Charlotte I., Holwerda, Sjoerd J.B., Abbot, Mary Alice, Antonarakis, Stylianos E., Loeys, Bart
Published in Genetics in medicine (01.07.2022)
Published in Genetics in medicine (01.07.2022)
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A new variant in the ZCCHC8 gene: diverse clinical phenotypes and expression in the lung
Groen, Karlijn, van der Vis, Joanne J, van Batenburg, Aernoud A, Kazemier, Karin M, de Bruijn, Marjolein J W, Stadhouders, Ralph, Arp, Pascal, Verkerk, Annemieke J M H, Schoemaker, Angela E, de Bie, Charlotte I, Massink, Maarten P G, van Beek, Frouke T, Grutters, Jan C, Vergouw, Leonie J M, van Moorsel, Coline H M
Published in ERJ open research (01.01.2024)
Published in ERJ open research (01.01.2024)
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Gene expression analysis of peripheral cells for subclassification of pediatric inflammatory bowel disease in remission
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
Published in PloS one (18.11.2013)
Published in PloS one (18.11.2013)
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X‐linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA‐binding site mutations
Campagna, Dean R., Bie, Charlotte I., Schmitz‐Abe, Klaus, Sweeney, Marion, Sendamarai, Anoop K., Schmidt, Paul J., Heeney, Matthew M., Yntema, Helger G., Kannengiesser, Caroline, Grandchamp, Bernard, Niemeyer, Charlotte M., Knoers, Nine V.A.M., Swart, Sonia, Marron, Gordon, Wijk, Richard, Raymakers, Reinier A., May, Alison, Markianos, Kyriacos, Bottomley, Sylvia S., Swinkels, Dorine W., Fleming, Mark D.
Published in American journal of hematology (01.03.2014)
Published in American journal of hematology (01.03.2014)
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EUS-guided hepaticogastrostomy for patients with afferent loop syndrome: a comparison with EUS-guided gastroenterostomy or percutaneous drainage
De Bie, Charlotte, Bronswijk, Michiel, Vanella, Giuseppe, Pérez-Cuadrado-Robles, Enrique, van Malenstein, Hannah, Laleman, Wim, Van der Merwe, Schalk
Published in Surgical endoscopy (01.04.2022)
Published in Surgical endoscopy (01.04.2022)
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Disease phenotype at diagnosis in pediatric Crohn's disease: 5-year analyses of the EUROKIDS Registry
de Bie, Charlotte I, Paerregaard, Anders, Kolacek, Sanja, Ruemmele, Frank M, Koletzko, Sibylle, Fell, John M E, Escher, Johanna C
Published in Inflammatory bowel diseases (01.02.2013)
Published in Inflammatory bowel diseases (01.02.2013)
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Atypical disease phenotypes in pediatric ulcerative colitis: 5-year analyses of the EUROKIDS Registry
Levine, Arie, de Bie, Charlotte I, Turner, Dan, Cucchiara, Salvatore, Sladek, Malgorzata, Murphy, M Stephen, Escher, Johanna C
Published in Inflammatory bowel diseases (01.02.2013)
Published in Inflammatory bowel diseases (01.02.2013)
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B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability
Houge, Gunnar, Haesen, Dorien, Vissers, Lisenka E L M, Mehta, Sarju, Parker, Michael J, Wright, Michael, Vogt, Julie, McKee, Shane, Tolmie, John L, Cordeiro, Nuno, Kleefstra, Tjitske, Willemsen, Marjolein H, Reijnders, Margot R F, Berland, Siren, Hayman, Eli, Lahat, Eli, Brilstra, Eva H, van Gassen, Koen L I, Zonneveld-Huijssoon, Evelien, de Bie, Charlotte I, Hoischen, Alexander, Eichler, Evan E, Holdhus, Rita, Steen, Vidar M, Døskeland, Stein Ove, Hurles, Matthew E, FitzPatrick, David R, Janssens, Veerle
Published in The Journal of clinical investigation (01.08.2015)
Published in The Journal of clinical investigation (01.08.2015)
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A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype
Robaszkiewicz, Katarzyna, Siatkowska, Małgorzata, Wadman, Renske I., Kamsteeg, Erik-Jan, Chen, Zhiyong, Merve, Ashirwad, Parton, Matthew, Bugiardini, Enrico, de Bie, Charlotte, Moraczewska, Joanna
Published in International journal of molecular sciences (01.11.2023)
Published in International journal of molecular sciences (01.11.2023)
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Familial motor neuron disease: co-occurrence of PLS and ALS (-FTD)
de Boer, Eva M J, Demaegd, Koen C, de Bie, Charlotte I, Veldink, Jan H, van den Berg, Leonard H, van Es, Michael A
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (01.02.2024)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (01.02.2024)
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Antitumor necrosis factor treatment for pediatric inflammatory bowel disease
de Bie, Charlotte I., Escher, Johanna C., de Ridder, Lissy
Published in Inflammatory bowel diseases (01.05.2012)
Published in Inflammatory bowel diseases (01.05.2012)
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Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease – Case series and review
Demaegd, Koen, Brilstra, Eva H., Hoogendijk, Jessica E., de Bie, Charlotte I., de Pagter, Mirjam S., van Hecke, Wim, Mühlebner, Angelika, van Es, Michael A., Milone, Margherita, van Rheenen, Wouter
Published in Neuromuscular disorders : NMD (01.06.2022)
Published in Neuromuscular disorders : NMD (01.06.2022)
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SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement
Bulthuis, Elianne P., Adjobo-Hermans, Merel J.W., de Potter, Bastiaan, Hoogstraten, Saskia, Wezendonk, Lisanne H.T., Tutakhel, Omar A.Z., Wintjes, Liesbeth T., van den Heuvel, Bert, Willems, Peter H.G.M., Kamsteeg, Erik-Jan, Gozalbo, M. Estela Rubio, Sallevelt, Suzanne C.E.H., Koudijs, Suzanne M., Nicolai, Joost, de Bie, Charlotte I., Hoogendijk, Jessica E., Koopman, Werner J.H., Rodenburg, Richard J.
Published in Biochimica et biophysica acta. Molecular basis of disease (01.12.2023)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.12.2023)
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Diagnostic Workup of Paediatric Patients With Inflammatory Bowel Disease in Europe: Results of a 5-Year Audit of the EUROKIDS Registry
de Bie, Charlotte I, Buderus, Stephan, Sandhu, Bhupinder K, de Ridder, Lissy, Paerregaard, Anders, Veres, Gabor, Dias, Jorge Amil, Escher, Johanna C
Published in Journal of pediatric gastroenterology and nutrition (01.03.2012)
Published in Journal of pediatric gastroenterology and nutrition (01.03.2012)
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Use of exclusive enteral nutrition in paediatric Crohn's disease in The Netherlands
de Bie, Charlotte, Kindermann, Angelika, Escher, Johanna
Published in Journal of Crohn's and colitis (01.05.2013)
Published in Journal of Crohn's and colitis (01.05.2013)
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A Novel Variant in ITPM3/I Causing Muscle Weakness and Concomitant Hypercontractile Phenotype
Robaszkiewicz, Katarzyna, Siatkowska, Małgorzata, Wadman, Renske I, Kamsteeg, Erik-Jan, Chen, Zhiyong, Merve, Ashirwad, Parton, Matthew, Bugiardini, Enrico, de Bie, Charlotte, Moraczewska, Joanna
Published in International journal of molecular sciences (01.11.2023)
Published in International journal of molecular sciences (01.11.2023)
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De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity
Tessarech, Marine, Friocourt, Gaëlle, Marguet, Florent, Lecointre, Maryline, Le Mao, Morgane, Díaz, Rodrigo Muñoz, Mignot, Cyril, Keren, Boris, Héron, Bénédicte, De Bie, Charlotte, Van Gassen, Koen, Loisel, Didier, Delorme, Benoit, Syrbe, Steffen, Klabunde-Cherwon, Annick, Jamra, Rami Abou, Wegler, Meret, Callewaert, Bert, Dheedene, Annelies, Zidane-Marinnes, Merzouka, Guichet, Agnès, Bris, Céline, Van Bogaert, Patrick, Biquard, Florence, Lenaers, Guy, Marcorelles, Pascale, Ferec, Claude, Gonzalez, Bruno, Procaccio, Vincent, Vitobello, Antonio, Bonneau, Dominique, Laquerriere, Annie, Khiati, Salim, Colin, Estelle
Published in Genetics in medicine (01.05.2024)
Published in Genetics in medicine (01.05.2024)
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Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency
Saunier, Chloé, Støve, Svein Isungset, Popp, Bernt, Gérard, Bénédicte, Blenski, Marina, AhMew, Nicholas, de Bie, Charlotte, Goldenberg, Paula, Isidor, Bertrand, Keren, Boris, Leheup, Bruno, Lampert, Laetitia, Mignot, Cyril, Tezcan, Kamer, Mancini, Grazia M.S., Nava, Caroline, Wasserstein, Melissa, Bruel, Ange-Line, Thevenon, Julien, Masurel, Alice, Duffourd, Yannis, Kuentz, Paul, Huet, Frédéric, Rivière, Jean-Baptiste, van Slegtenhorst, Marjon, Faivre, Laurence, Piton, Amélie, Reis, André, Arnesen, Thomas, Thauvin-Robinet, Christel, Zweier, Christiane
Published in Human mutation (01.08.2016)
Published in Human mutation (01.08.2016)
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Self-efficacy in adolescents with inflammatory bowel disease: A pilot study of the “IBD-yourself”, a disease-specific questionnaire
Zijlstra, Marieke, De Bie, Charlotte, Breij, Laura, van Pieterson, Merel, van Staa, AnneLoes, de Ridder, Lissy, van der Woude, Janneke, Escher, Johanna
Published in Journal of Crohn's and colitis (01.10.2013)
Published in Journal of Crohn's and colitis (01.10.2013)
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The duration of effect of infliximab maintenance treatment in paediatric Crohn’s disease is limited
De Bie, C. I., Hummel, T. Z., Kindermann, A., Kokke, F. T. M., Damen, G. M., Kneepkens, C. M. F., Van Rheenen, P. F., Schweizer, J. J., Hoekstra, J. H., Norbruis, O. F., Tjon a Ten, W. E., Vreugdenhil, A. C., Deckers‐Kocken, J. M., Gijsbers, C. F. M., Escher, J. C., De Ridder, L.
Published in Alimentary pharmacology & therapeutics (01.01.2011)
Published in Alimentary pharmacology & therapeutics (01.01.2011)
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