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UMC Repository: Recent submissions

  • Evidence for multiple modes of neutrophil serine protease recognition by the EAP family of Staphylococcal innate immune evasion proteins 
    Stapels, Daphne A.C.; Woehl, Jordan L.; Milder, Fin J.; Tromp, Angelino T.; van Batenburg, Aernoud A.; de Graaf, Wilco C.; Broll, Samuel C.; White, Natalie M.; Rooijakkers, Suzan H.M.; Geisbrecht, Brian V. (Wiley-Blackwell, 2018-02)
    Neutrophils contain high levels of chymotrypsin-like serine proteases (NSPs) within their azurophilic granules that have a multitude of functions within the immune system. In response, the pathogen Staphylococcus aureus ...
  • Timing of surgery in traumatic spinal cord injury: a national, multidisciplinary survey 
    ter Wengel, P. V.; Feller, R. E.; Stadhouder, A.; Verbaan, D.; Oner, F. C.; Goslings, J. C.; Vandertop, W. P. (Springer-Verlag, 2018-08-01)
    Purpose: The optimal surgical timeframe for neurological recovery in traumatic spinal cord injury (tSCI) still remains unknown. Recent guidelines have recommended performing surgery within 24 h for all patients with tSCI ...
  • Clinical Integration of Genome Diagnostics for Congenital Anomalies of the Kidney and Urinary Tract 
    Westland, Rik; Renkema, Kirsten Y; Knoers, Nine V A M (Lippincott Williams & Wilkins, 2020-12-31)
    Revolutions in genetics, epigenetics, and bioinformatics are currently changing the outline of diagnostics and clinical medicine. From a nephrologist's perspective, individuals with congenital anomalies of the kidney and ...
  • Maternal risk associated with the VACTERL association: A case-control study 
    van de Putte, Romy; de Walle, Hermien E K; van Hooijdonk, Kirsten J M; de Blaauw, Ivo; Marcelis, Carlo L M; van Heijst, Arno; Giltay, Jacques C; Renkema, Kirsten Y; Broens, Paul M A; Brosens, Erwin; Sloots, Cornelius E J; Bergman, Jorieke E H; Roeleveld, Nel; van Rooij, Iris A L M (John Wiley & Sons Inc., 2020-11)
    BACKGROUND: The VACTERL association (VACTERL) includes at least three of these congenital anomalies: vertebral, anal, cardiac, trachea-esophageal, renal, and limb anomalies. Assisted reproductive techniques (ART), ...
  • Deprescribing in Epilepsy: Do No Harm 
    Terman, Samuel W.; Lamberink, Herm J.; Braun, Kees P.J. (American Medical Association, 2020-06)
  • Big data in epilepsy: Clinical and research considerations. Report from the Epilepsy Big Data Task Force of the International League Against Epilepsy 
    Lhatoo, Samden D.; Bernasconi, Neda; Blumcke, Ingmar; Braun, Kees; Buchhalter, Jeffrey; Denaxas, Spiros; Galanopoulou, Aristea; Josephson, Colin; Kobow, Katja; Lowenstein, Daniel; Ryvlin, Philippe; Schulze-Bonhage, Andreas; Sahoo, Satya S.; Thom, Maria; Thurman, David; Worrell, Greg; Zhang, Guo Qiang; Wiebe, Samuel (Wiley-Blackwell, 2020-09-01)
    Epilepsy is a heterogeneous condition with disparate etiologies and phenotypic and genotypic characteristics. Clinical and research aspects are accordingly varied, ranging from epidemiological to molecular, spanning clinical ...
  • Establishing criteria for pediatric epilepsy surgery center levels of care: Report from the ILAE Pediatric Epilepsy Surgery Task Force 
    Gaillard, William D.; Jette, Nathalie; Arnold, Susan T.; Arzimanoglou, Alexis; Braun, Kees P.J.; Cukiert, Arthur; Dick, Alexander; Harvey, A. Simon; Jacobs, Julia; Rydenhag, Bertil; Udani, Vrajesh; Wilmshurst, Jo M.; Cross, J. Helen; Jayakar, Prasanna; Task Force for Pediatric Epilepsy Surgery, Commission for Pediatrics, and the Surgical Commission of the International League Against Epilepsy (Wiley-Blackwell, 2020-12-01)
    Presurgical evaluation and surgery in the pediatric age group are unique in challenges related to caring for the very young, range of etiologies, choice of appropriate investigations, and surgical procedures. Accepted ...
  • Kinesin-4 KIF21B limits microtubule growth to allow rapid centrosome polarization in T cells 
    Hooikaas, Peter Jan; Damstra, Hugo Gj; Gros, Oane J; van Riel, Wilhelmina E; Martin, Maud; Smits, Yesper Th; van Loosdregt, Jorg; Kapitein, Lukas C; Berger, Florian; Akhmanova, Anna (eLife Sciences Publications, 2020-12-21)
    When a T cell and an antigen-presenting cell form an immunological synapse, rapid dynein-driven translocation of the centrosome towards the contact site leads to reorganization of microtubules and associated organelles. ...
  • Molecular evolution of IDH wild-type glioblastomas treated with standard of care affects survival and design of precision medicine trials: A report from the EORTC 1542 study 
    Draaisma, Kaspar; Chatzipli, Aikaterini; Taphoorn, Martin; Kerkhof, Melissa; Weyerbrock, Astrid; Sanson, Marc; Hoeben, Ann; Lukacova, Slávka; Lombardi, Giuseppe; Leenstra, Sieger; Hanse, Monique; Fleischeuer, Ruth; Watts, Colin; McAbee, Joseph; Angelopoulos, Nicos; Gorlia, Thierry; Golfinopoulos, Vassilis; Kros, Johan M.; Verhaak, Roel G.W.; Bours, Vincent; van den Bent, Martin J.; McDermott, Ultan; Robe, Pierre A.; French, Pim J. (Lippincott Williams & Wilkins, 2020)
    PURPOSE Precision medicine trials in glioblastoma (GBM) are often conducted at tumor recurrence. However, second surgeries for recurrent GBM are not routinely performed, and therefore, molecular data for trial inclusion ...
  • Reply to: Letter to the Editor Regarding Anesthesia Management for Low-Grade Glioma Awake Surgery: A European Low-Grade Glioma Network Survey 
    ELGGN (Springer, 2020-07-01)
  • Glibenclamide reverses cardiovascular abnormalities of Cantu syndrome driven by KATP channel overactivity 
    McClenaghan, Conor; Huang, Yan; Yan, Zihan; Harter, Theresa M.; Halabi, Carmen M.; Chalk, Rod; Kovacs, Attila; Van Haaften, Gijs; Remedi, Maria S.; Nichols, Colin G. (American Society for Clinical Investigation, 2020-03-02)
    Cantu syndrome (CS) is a complex disorder caused by gain-of-function (GoF) mutations in ABCC9 and KCNJ8, which encode the SUR2 and Kir6.1 subunits, respectively, of vascular smooth muscle (VSM) KATP channels. CS includes ...
  • Partner independent fusion gene detection by multiplexed CRISPR-Cas9 enrichment and long read nanopore sequencing 
    Stangl, Christina; de Blank, Sam; Renkens, Ivo; Westera, Liset; Verbeek, Tamara; Valle-Inclan, Jose Espejo; González, Rocio Chamorro; Henssen, Anton G.; van Roosmalen, Markus J.; Stam, Ronald W.; Voest, Emile E.; Kloosterman, Wigard P.; van Haaften, Gijs; Monroe, Glen R. (Nature Publishing Group, 2020-06-05)
    Fusion genes are hallmarks of various cancer types and important determinants for diagnosis, prognosis and treatment. Fusion gene partner choice and breakpoint-position promiscuity restricts diagnostic detection, even for ...
  • RN2Blend: meerjarig onderzoek naar gedifferentieerde inzet van verpleegkundigen 
    Lalleman, Pieterbas; Stalpers, Dewi; Goossens, Lucas; Van Oostveen, Catharina; Bal, Roland; Schoonhoven, Lisette; Vermeulen, Hester; Wallenburg, Iris (Elsevier, 2020-03)
  • Performance of BRCA1/2 mutation prediction models in male breast cancer patients 
    Moghadasi, S.; Grundeken, V.; Janssen, L. A.M.; Dijkstra, N. H.; Rodríguez-Girondo, M.; van Zelst-Stams, W. A.G.; Oosterwijk, J. C.; Ausems, M. G.E.M.; Oldenburg, R. A.; Adank, M. A.; Blom, E. W.; Ruijs, M. W.G.; van Os, T. A.M.; van Deurzen, C. H.M.; Martens, J. W.M.; Schroder, C. P.; Wijnen, J. T.; Vreeswijk, M. P.G.; van Asperen, C. J. (Wiley-Blackwell, 2018-01)
    To establish whether existing mutation prediction models can identify which male breast cancer (MBC) patients should be offered BRCA1 and BRCA2 diagnostic DNA screening, we compared the performance of BOADICEA (Breast and ...
  • TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort 
    Bakhuizen, J. J.; Hogervorst, F. B.; Velthuizen, M. E.; Ruijs, M. W.; van Engelen, K.; van Os, T. A.; Gille, J. J.; Collée, M.; van den Ouweland, A. M.; van Asperen, C. J.; Kets, C. M.; Mensenkamp, A. R.; Leter, E. M.; Blok, M. J.; de Jong, M. M.; Ausems, M. G. (Springer Netherlands, 2019-04-15)
    Early-onset breast cancer may be due to Li–Fraumeni Syndrome (LFS). Current national and international guidelines recommend that TP53 genetic testing should be considered for women with breast cancer diagnosed before the ...
  • Survival after bilateral risk-reducing mastectomy in healthy BRCA1 and BRCA2 mutation carriers 
    Heemskerk-Gerritsen, Bernadette A.M.; Jager, Agnes; Koppert, Linetta B.; Obdeijn, A. Inge Marie; Collée, Margriet; Meijers-Heijboer, Hanne E.J.; Jenner, Denise J.; Oldenburg, Hester S.A.; van Engelen, Klaartje; de Vries, Jakob; van Asperen, Christi J.; Devilee, Peter; Blok, Marinus J.; Kets, C. Marleen; Ausems, Margreet G.E.M.; Seynaeve, Caroline; Rookus, Matti A.; Hooning, Maartje J. (Springer New York, 2019-10-01)
    Background: In healthy BRCA1/2 mutation carriers, bilateral risk-reducing mastectomy (BRRM) strongly reduces the risk of developing breast cancer (BC); however, no clear survival benefit of BRRM over BC surveillance has ...
  • Increased prevalence of Barrett’s esophagus in patients with MUTYH-associated polyposis (MAP) 
    Daans, Ceranza G.; Ghorbanoghli, Zeinab; Velthuizen, Mary E.; Vasen, Hans F.A.; Offerhaus, George J.A.; Lacle, Miangela M.; Siersema, Peter D.; Ausems, Margreet G.E.M.; Boonstra, Jurjen J. (Springer Netherlands, 2020-04-01)
    Barrett’s oesophagus (BE) has been associated with an increased risk of both colorectal adenomas and colorectal cancer. A recent investigation reported a high frequency of BE in patients with adenomatous polyposis coli ...
  • Voorwoord bij het themanummer genetische aspecten bij prostaatkanker 
    Ausems, Margreet G.E.M.; Hairwassers, Désirée A.E.; Kiemeney, Lambertus A.L.M. (Springer Science + Business Media, 2020-03-01)
  • Genetisch onderzoek bij prostaatkanker: nieuwe ontwikkelingen 
    Ausems, Margreet G.E.M.; Kiemeney, Lambertus A.L.M. (Springer Science + Business Media, 2020-03-01)
    At this moment, germline genetic testing is rarely requested in patients with prostate cancer. However, a breast cancer gene mutation is frequently detected in men with metastasized prostate cancer (mainly in BRCA2). In ...
  • Systematic development of a training program for healthcare professionals to improve communication about breast cancer genetic counseling with low health literate patients 
    van der Giessen, Jeanine A.M.; Ausems, Margreet G.E.M.; van den Muijsenbergh, Maria E.T.C.; van Dulmen, Sandra; Fransen, Mirjam P. (Springer Netherlands, 2020-10-01)
    There is a disproportionate underuse of genetic testing in breast cancer patients from lower education or migrant background. Within these groups, communication about referral to genetic counseling appears challenging due ...