Recently added

DSpace/Manakin Repository

UMC Repository: Recent submissions

  • International Evidence Based Reappraisal of Genes Associated with Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework 
    James, Cynthia A; Jongbloed, Jan D H; Hershberger, Ray E; Morales, Ana; Judge, Daniel P; Syrris, Petros; Pilichou, Kalliopi; Medeiros Domingo, Argelia; Murray, Brittney; Cadrin-Tourigny, Julia; Lekanne Deprez, Ronald; Celeghin, Rudy; Protonotarios, Alexandros; Asatryan, Babken; Brown, Emily; Jordan, Elizabeth; McGlaughon, Jennifer; Thaxton, Courtney; Kurtz, C Lisa; van Tintelen, J Peter (Lippincott Williams & Wilkins, 2021-06)
    Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by ventricular arrhythmias and progressive ventricular dysfunction. Genetic testing is recommended, and a pathogenic ...
  • Effect of a health literacy training program for surgical oncologists and specialized nurses on disparities in referral to breast cancer genetic testing 
    van der Giessen, Jeanine A M; van Dulmen, Sandra; Velthuizen, Mary E; van den Muijsenbergh, Maria E T C; van Engelen, Klaartje; Collée, Margriet; van Dalen, Thijs; Aalfs, Cora M; Hooning, Maartje J; Spreeuwenberg, Peter M M; Fransen, Mirjam P; Ausems, Margreet G E M (Churchill Livingstone, 2021-08)
    BACKGROUND: There is an underuse of genetic testing in breast cancer patients with a lower level of education, limited health literacy or a migrant background. We aimed to study the effect of a health literacy training ...
  • MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis 
    Korotkov, A; Sim, N S; Luinenburg, M J; Anink, J J; van Scheppingen, J; Zimmer, T S; Bongaarts, A; Broekaart, D W M; Mijnsbergen, C; Jansen, F E; Van Hecke, W; Spliet, W G M; van Rijen, P C; Feucht, M; Hainfellner, J A; Krsek, P; Zamecnik, J; Crino, P B; Kotulska, K; Lagae, L; Jansen, A C; Kwiatkowski, D J; Jozwiak, S; Curatolo, P; Mühlebner, A; Lee, J H; Mills, J D; van Vliet, E A; Aronica, E (Wiley-Blackwell, 2021-10)
    AIMS: Tuberous sclerosis complex (TSC) is a genetic disorder associated with dysregulation of the mechanistic target of rapamycin complex 1 (mTORC1) signalling pathway. Neurodevelopmental disorders, frequently present in ...
  • Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial 
    Blümcke, Ingmar; Coras, Roland; Busch, Robyn M; Morita-Sherman, Marcia; Lal, Dennis; Prayson, Richard; Cendes, Fernando; Lopes-Cendes, Iscia; Rogerio, Fabio; Almeida, Vanessa S; Rocha, Cristiane S; Sim, Nam Suk; Lee, Jeong Ho; Kim, Se Hoon; Baulac, Stephanie; Baldassari, Sara; Adle-Biassette, Homa; Walsh, Christopher A; Bizzotto, Sara; Doan, Ryan N; Morillo, Katherine S; Aronica, Eleonora; Mühlebner, Angelika; Becker, Albert; Cienfuegos, Jesus; Garbelli, Rita; Giannini, Caterina; Honavar, Mrinalini; Jacques, Thomas S; Thom, Maria; Mahadevan, Anita; Miyata, Hajime; Niehusmann, Pitt; Sarnat, Harvey B; Söylemezoglu, Figen; Najm, Imad (Wiley-Blackwell, 2021-06)
    OBJECTIVE: Focal cortical dysplasia (FCD) is a major cause of difficult-to-treat epilepsy in children and young adults, and the diagnosis is currently based on microscopic review of surgical brain tissue using the International ...
  • Sprague dawley rats develop more joint damage compared to wistar-han rats in a high fat-high sucrose groove model of osteoarthritis 
    Warmink, K; Rios, JL; van Valkengoed, DR; Korthagen, NM; Weinans, H (W.B. Saunders Ltd, 2021-04)
  • Kennisontwikkeling in de klinische psychiatrie: Leren van elektronische patiëntendossiers 
    Menger, Vincent; Spruit, Marco; Scheepers, Floortje (Uitgeverij Boom, 2021-04)
    Background Today, almost every psychiatric care institution registers information concerning the care they provide in an electronic health record (EHR). By analyzing these health care data with innovative and advanced ...
  • Comparing outcomes of a second allogeneic hematopoietic cell transplant using HLA-matched unrelated versus T-cell replete haploidentical donors in relapsed acute lymphoblastic leukemia: a study of the Acute Leukemia Working Party of EBMT 
    Kharfan-Dabaja, Mohamed A; Labopin, Myriam; Bazarbachi, Ali; Ciceri, Fabio; Finke, Jürgen; Bruno, Benedetto; Bornhäuser, Martin; Gedde-Dahl, Tobias; Labussière-Wallet, Hélène; Niittyvuopio, Riitta; Valerius, Thomas; Angelucci, Emanuele; Brecht, Arne; Caballero, Dolores; Kuball, Jürgen; Potter, Victoria; Schmid, Christoph; Tischer, Johanna; Zuckerman, Tsila; Benedetti, Fabio; Blaise, Didier; Diez-Martin, Jose Luis; Sanz, Jaime; Ruggeri, Annalisa; Brissot, Eolia; Savani, Bipin N; Giebel, Sebastian; Nagler, Arnon; Mohty, Mohamad (Springer Nature, 2021-09)
    Optimal donor choice for a second allogeneic hematopoietic cell transplant (allo-HCT) in relapsed acute lymphoblastic leukemia (ALL) remains undefined. We compared outcomes using HLA-matched unrelated donors (MUD) versus ...
  • Short-term postoperative outcomes after liver resection in the elderly patient: a nationwide population-based study 
    Collaborators (John Wiley & Sons Inc., 2021-10)
    Background: Liver resection is high-risk surgery in particular in elderly patients. The aim of this study was to explore postoperative outcomes after liver resection in elderly patients. Methods: In this nationwide study, ...
  • Monocyte-chemoattractant protein-1 levels in human atherosclerotic lesions associate with plaque vulnerability 
    Georgakis, Marios K.; van der Laan, Sander W.; Asare, Yaw; Mekke, Joost M.; Haitjema, Saskia; Schoneveld, Arjan H.; de Jager, Saskia C.A.; Nurmohamed, Nick S.; Kroon, Jeffrey; Stroes, Erik S.G.; de Kleijn, Dominique P.V.; de Borst, Gert J.; Maegdefessel, Lars; Soehnlein, Oliver; Pasterkamp, Gerard; Dichgans, Martin (Lippincott Williams & Wilkins, 2021-06)
    Objective: To determine whether MCP-1 (monocyte chemoattractant protein 1) levels in human atherosclerotic plaques associate with plaque vulnerability features. Approach and Results: We measured MCP-1 levels in human ...
  • Kidney hemodynamic function in men and postmenopausal women with type 2 diabetes and preserved kidney function 
    van Velzen, Daan M; Smits, Mark M; van Bommel, Erik Jm; Muskiet, Marcel H A; Tonneijck, Lennart; Kramer, Mark H H; Joles, Jaap A; den Heijer, Martin; Nokoff, Natalie; Bjornstad, Petter; van Raalte, Daniel Henri (American Physiological Society, 2021-06-01)
    The progression of kidney disease may differ between sexes in type 2 diabetes (T2D), with previous studies reporting a slower decline in women. Glomerular hyperfiltration is a key factor driving the kidney function decline. ...
  • Clinical outcomes of biliary drainage of malignant biliary obstruction due to colorectal cancer metastases: A systematic review 
    Kastelijn, Janine B; van der Loos, Maria Atc; Welsing, Paco Mj; Dhondt, Elisabeth; Koopman, Miriam; Moons, Leon Mg; Vleggaar, Frank P (Elsevier, 2021-06)
    BACKGROUND AND AIMS: Malignant biliary obstruction is an ominous complication of metastatic colorectal cancer (mCRC). Biliary drainage is frequently performed to relieve symptoms of jaundice or enable palliative systemic ...
  • Cardiac Protection by Oral Sodium Thiosulfate in a Rat Model of L-NNA-Induced Heart Disease 
    Nguyen, Isabel T N; Wiggenhauser, Lucas M; Bulthuis, Marian; Hillebrands, Jan-Luuk; Feelisch, Martin; Verhaar, Marianne C; van Goor, Harry; Joles, Jaap A (Frontiers Media S. A., 2021-04-15)
    Hypertension contributes to cardiac damage and remodeling. Despite the availability of renin-angiotensin system inhibitors and other antihypertensive therapies, some patients still develop heart failure. Novel therapeutic ...
  • TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development 
    van Woerden, Geeske M; Bos, Melanie; de Konink, Charlotte; Distel, Ben; Avagliano Trezza, Rossella; Shur, Natasha E; Barañano, Kristin; Mahida, Sonal; Chassevent, Anna; Schreiber, Allison; Erwin, Angelika L; Gripp, Karen W; Rehman, Fatima; Brulleman, Saskia; McCormack, Róisín; de Geus, Gwynna; Kalsner, Louisa; Sorlin, Arthur; Bruel, Ange-Line; Koolen, David A; Gabriel, Melissa K; Rossi, Mari; Fitzpatrick, David R; Wilkie, Andrew O M; Calpena, Eduardo; Johnson, David; Brooks, Alice; van Slegtenhorst, Marjon; Fleischer, Julie; Groepper, Daniel; Lindstrom, Kristin; Innes, A Micheil; Goodwin, Allison; Humberson, Jennifer; Noyes, Amanda; Langley, Katherine G; Telegrafi, Aida; Blevins, Amy; Hoffman, Jessica; Guillen Sacoto, Maria J; Juusola, Jane; Monaghan, Kristin G; Punj, Sumit; Simon, Marleen; Pfundt, Rolph; Elgersma, Ype; Kleefstra, Tjitske (John Wiley & Sons Inc., 2021-04)
    Thousand and one amino-acid kinase 1 (TAOK1) is a MAP3K protein kinase, regulating different mitogen-activated protein kinase pathways, thereby modulating a multitude of processes in the cell. Given the recent finding of ...
  • End-stage kidney disease in patients with clinically manifest vascular disease; incidence and risk factors: results from the UCC-SMART cohort study 
    UCC-SMART-Studygroup (Springer Science and Business Media Deutschland GmbH, 2021-10)
    Background: Patients with cardiovascular disease (CVD) are at increased risk of end-stage kidney disease (ESKD). Insights into the incidence and role of modifiable risk factors for end-stage kidney disease may provide means ...
  • Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders 
    CAUSES Study (BioMed Central, 2021-04-19)
    BACKGROUND: With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype-phenotype ...
  • Comparison between EQ-5D-5L and PROMIS-10 to evaluate health-related quality of life 3 months after stroke: a cross-sectional multicenter study 
    de Graaf, Joris A; Visser-Meily, Johanna M; Schepers, Vera P; Baars, Annette; Kappelle, L Jaap; Passier, Patricia E; Wermer, Marieke J; de Wit, Daniëlle C; Post, Marcel W (Edizioni Minerva Medica S.p.A, 2021-06)
    BACKGROUND: Although the use of patient-reported outcome measures to assess Health-Related Quality of Life (HRQoL) has been advocated, it is still open to debate which patient-reported outcome measure should be preferred ...
  • Cerebral cortical microinfarcts in patients with internal carotid artery occlusion 
    Heart-Brain Connection Consortium (SAGE Publications Inc., 2021-10)
    Cerebral cortical microinfarcts (CMI) are small ischemic lesions that are associated with cognitive impairment and probably have multiple etiologies. Cerebral hypoperfusion has been proposed as a causal factor. We studied ...
  • Strategic infarct locations for post-stroke cognitive impairment: a pooled analysis of individual patient data from 12 acute ischaemic stroke cohorts 
    Weaver, Nick A.; Kuijf, Hugo J.; Aben, Hugo P.; Abrigo, Jill; Bae, Hee Joon; Barbay, Mélanie; Best, Jonathan G.; Bordet, Régis; Chappell, Francesca M.; Chen, Christopher P.L.H.; Dondaine, Thibaut; van der Giessen, Ruben S.; Godefroy, Olivier; Gyanwali, Bibek; Hamilton, Olivia K.L.; Hilal, Saima; Huenges Wajer, Irene M.C.; Kang, Yeonwook; Kappelle, L. Jaap; Kim, Beom Joon; Köhler, Sebastian; de Kort, Paul L.M.; Koudstaal, Peter J.; Kuchcinski, Gregory; Lam, Bonnie Y.K.; Lee, Byung Chul; Lee, Keon Joo; Lim, Jae Sung; Lopes, Renaud; Makin, Stephen D.J.; Mendyk, Anne Marie; Mok, Vincent C.T.; Oh, Mi Sun; van Oostenbrugge, Robert J.; Roussel, Martine; Shi, Lin; Staals, Julie; Del C Valdés-Hernández, Maria; Venketasubramanian, Narayanaswamy; Verhey, Frans R.J.; Wardlaw, Joanna M.; Werring, David J.; Xin, Xu; Yu, Kyung Ho; van Zandvoort, Martine J.E.; Zhao, Lei; Biesbroek, J. Matthijs; Biessels, Geert Jan (Elsevier Limited, 2021-06)
    BACKGROUND: Post-stroke cognitive impairment (PSCI) occurs in approximately half of people in the first year after stroke. Infarct location is a potential determinant of PSCI, but a comprehensive map of strategic infarct ...
  • Role of Regulatory Cells in Immune Tolerance Induction in Hemophilia A 
    Schep, Sarah; Schutgens, Roger E; Fischer, Kathelijn; Voorberg, Jan; Boes, Marianne (Wolters Kluwer Health, 2021-05)
    The main complication of hemophilia A treatment is the development of neutralizing antibodies (inhibitors) against factor VIII (FVIII). Immune tolerance induction (ITI) is the prescribed treatment for inhibitor eradication, ...
  • Upcoming immunotherapeutic combinations for B-cell lymphoma 
    Greve, Patrick; Meyer Wentrup, Friederike; Peperzak, Victor; Boes, Marianne (2021-01-01)
    After initial introduction for B-cell lymphomas as adjuvant therapies to established cancer treatments, immune checkpoint inhibitors and other immunotherapies are now integrated in mainstream regimens, both in adult and ...