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UMC Repository: Recent submissions

  • Phenotype delineation of ZNF462 related syndrome 
    Kruszka, Paul; Hu, Tommy; Hong, Sungkook; Signer, Rebecca; Cogne, Benjamin; Isidor, Betrand; Mazzola, Sarah E.; Giltay, Jacques C.; van Gassen, Koen L. I.; England, Eleina M.; Pais, Lynn; Ockeloen, Charlotte W.; Sanchez-Lara, Pedro A.; Kinning, Esther; Adams, Darius J.; Treat, Kayla; Torres-Martinez, Wilfredo; Bedeschi, Maria F.; Iascone, Maria; Blaney, Stephanie; Bell, Oliver; Tan, Tiong Y.; Delrue, Marie-Ange; Jurgens, Julie; Barry, Brenda J.; Engle, Elizabeth C.; Savage, Sarah K.; Fleischer, Nicole; Martinez-Agosto, Julian A.; Boycott, Kym; Zackai, Elaine H.; Muenke, Maximilian (John Wiley & Sons Inc., 2019-10-01)
    Zinc finger protein 462 (ZNF462) is a relatively newly discovered vertebrate specific protein with known critical roles in embryonic development in animal models. Two case reports and a case series study have described the ...
  • Personal Recovery Among Service Users Compared With Siblings and a Control Group: A Critical Note on Recovery Assessment 
    Van der Krieke, Lian; Bartels-Velthuis; Sytema, Sjoerd; Van Baaren, Joyce; Veermans, Erwin; Driessen, Ger; Driesen, Truda; Pos, Karin; Van 't Hag, Erna; de Nijs, Jessica; Islam, Atiqul; Beuken, Wendy; Op 't Eijnde, Debora; van Amelsvoort, Therese; Bartels-Velthuis; Bruggeman, Richard; Cahn, Wiepke; de Haan, Lieuwe; Schirmbeck, Frederike; Simons, Claudia J. P.; van Os, Jim (American Psychiatric Association, 2019-01-01)
    Objective: One way to boost the implementation of a recovery-oriented practice in psychiatric care may be by including outcome measures assessing recovery. However, the five core processes of personal recovery—connectedness, ...
  • Genetic analysis in the bariatric clinic; impact of a PTEN gene mutation 
    Cooiman, Mellody I.; Kleinendorst, Lotte; van der Zwaag, Bert; Janssen, Ignace M.C.; Berends, Frits J.; van Haelst, Mieke M. (John Wiley & Sons Inc., 2019-06-01)
    Background: Pathogenic PTEN gene mutations are known to cause PTEN tumor hamartoma syndrome. Recent studies also suggest a role for PTEN mutations in the pathogenesis of obesity. No PTEN mutations have been reported among ...
  • Extensive Phenotyping for Potential Weight-Inducing Factors in an Outpatient Population with Obesity 
    Savas, Mesut; Wester, Vincent L.; Visser, Jenny A.; Kleinendorst, Lotte; Van Der Zwaag, Bert; Van Haelst, Mieke M.; Van Den Akker, Erica L.T.; Van Rossum, Elisabeth F.C. (S. Karger AG, 2019-09-01)
    BACKGROUND: Obesity has been associated with miscellaneous weight-inducing determinants. A comprehensive assessment of known obesity-related factors other than diet and physical activity within one cohort is currently ...
  • Development, behaviour and autism in individuals with SMC1A variants 
    SMC1A Consortium (Wiley-Blackwell, 2019-03-01)
    Introduction: Development and behaviour in Cornelia de Lange Syndrome (CdLS), including autism characteristics, have been described infrequently stratified to genetic cause and only a few studies have considered behavioural ...
  • Multiple tumors due to mosaic genome-wide paternal uniparental disomy 
    Postema, Floor A.M.; Bliek, Jet; van Noesel, Carel J.M.; van Zutven, Laura J.C.M.; Oosterwijk, Jan C.; Hopman, Saskia M.J.; Merks, Johannes H.M.; Hennekam, Raoul C. (Wiley-Liss Inc., 2019-06-01)
    Mosaic genome-wide paternal uniparental disomy is an infrequently described disorder in which affected individuals have signs and symptoms that may resemble Beckwith–Wiedemann syndrome. In addition, they can develop multiple ...
  • Evaluation of gene panels for inherited cardiac disease—is less more? 
    Dooijes, D.; Siemelink, M.; Baas, A. F. (Bohn Stafleu van Loghum, 2019-06-01)
  • Correction: Putting genome-wide sequencing in neonates into perspective 
    van der Sluijs, Pleuntje J.; Aten, Emmelien; Barge-Schaapveld, Daniela Q.C.M.; Bijlsma, Emilia K.; Bökenkamp-Gramann, Regina; Kaat, Laura Donker; van Doorn, Remco; van de Putte, Dietje Fransen; van Haeringen, Arie; ten Harkel, Arend D.J.; Hilhorst-Hofstee, Yvonne; Hoffer, Mariette J.V.; den Hollander, Nicolette S.; van Ierland, Yvette; Koopmans, Marije; Kriek, Marjolein; Moghadasi, Setareh; Nibbeling, Esther A.R.; Peeters-Scholte, Cacha M.P.C.D.; Potjer, Thomas P.; van Rij, Maartje; Ruivenkamp, Claudia A.L.; Rutten, Julie W.; Steggerda, Sylke J.; Suerink, Manon; Tan, Ratna N.G.B.; van der Tuin, Karin; Visser, Remco; van der Werf–t Lam, Anne Sophie; Williams, Monique; Witlox, Ruben; Santen, Gijs W.E. (Lippincott Williams & Wilkins, 2019-09-01)
    The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der Sluijs. This has now been corrected in both the PDF and ...
  • Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers 
    IMPACT Study Collaborators (Elsevier, 2019-12)
    BACKGROUND: Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with germline BRCA1/2 ...
  • Auditory hallucinations, top-down processing and language perception: a general population study 
    de Boer, J. N.; Linszen, M. M.J.; de Vries, J.; Schutte, M. J.L.; Begemann, M. J.H.; Heringa, S. M.; Bohlken, M. M.; Hugdahl, K.; Aleman, A.; Wijnen, F. N.K.; Sommer, I. E.C. (Cambridge University Press, 2019-12-01)
    BACKGROUND: Studies investigating the underlying mechanisms of hallucinations in patients with schizophrenia suggest that an imbalance in top-down expectations v. bottom-up processing underlies these errors in perception. ...
  • Tackling missing heritability by use of an optimum curve: A systematic review and meta-analysis 
    Sleeswijk, Anneke Wegener; Heijungs, Reinout; Durston, Sarah (Multidisciplinary Digital Publishing Institute (MDPI), 2019-10-02)
    Missing heritability is a common problem in psychiatry that impedes precision medicine approaches to autism and other heritable complex disorders. This proof-of-concept study uses a systematic review and meta-analysis of ...
  • When parallel roads meet: Orchestrating collaborations between regulatory, ethical and business partners in translational medicine 
    Tabori, Uri; Ferenbok, Joseph; Thomas, Emmanuel; Swart, Joost F.; Albani, Salvatore; Seyfert-Margolis, Vicki L.; Sauvage, Emilie L. (Frontiers Media S. A., 2019-01-01)
  • Immunogenicity of biologic agents in juvenile idiopathic arthritis: A systematic review and meta-analysis 
    Doeleman, Martijn J.H.; Van Maarseveen, Erik M.; Swart, Joost F. (Oxford University Press, 2019-10-01)
    OBJECTIVE: The clinical impact of anti-drug antibodies (ADAbs) in paediatric patients with JIA remains unknown. This systematic review and meta-analysis aimed to summarize the prevalence of ADAbs in JIA studies; investigate ...
  • Staphylococcus aureus toxin LukSF dissociates from its membrane receptor target to enable renewed ligand sequestration 
    Haapasalo, Karita; Wollman, Adam J.M.; de Haas, Carla J.C.; van Kessel, Kok P.M.; van Strijp, Jos A.G.; Leake, Mark C. (John Wiley & Sons Inc., 2019-03-01)
    Staphylococcus aureus Panton-Valentine leukocidin is a pore-forming toxin targeting the human C5a receptor (hC5aR), enabling this pathogen to battle the immune response by destroying phagocytes through targeted lysis. The ...
  • Is meconium ileus associated with worse outcomes in cystic fibrosis? 
    Sathe, Meghana; Houwen, Roderick (Elsevier, 2019-11)
  • First report of IgG4 related disease primary presenting as vertebral bone marrow lesions 
    van den Elshout-Den Uyl, Debby; Spoto, Clothaire P.E.; de Boer, Mirthe; Leiner, Tim; Leavis, Helen L.; Leguit, Roos J. (Frontiers Media S. A., 2019-01-01)
    IgG4-related disease is a fibro-inflammatory disorder characterized by swelling of tissues and affected organs accompanied by the development of scar tissue (fibrosis) and infiltration by IgG4 positive plasma cells. Almost ...
  • Exposure-Response Assessment of Enzalutamide and Its Major Metabolites in a Real-World Cohort of Patients with Metastatic Castration-Resistant Prostate Cancer 
    van Nuland, Merel; Bergman, Andries M; Rosing, Hilde; de Vries, Niels; Huitema, Alwin D R; Beijnen, Jos H (American College of Clinical Pharmacy, 2019-12)
    STUDY OBJECTIVE: Enzalutamide is an oral agent for the treatment of metastatic castration-resistant prostate cancer (mCRPC); N-desmethyl enzalutamide is its active metabolite, which has clinically relevant anti-androgen ...
  • Pharmacokinetics of capecitabine and four metabolites in a heterogeneous population of cancer patients: a comprehensive analysis 
    Jacobs, Bart A W; Deenen, Maarten J; Joerger, Markus; Rosing, Hilde; de Vries, Niels; Meulendijks, Didier; Cats, Annemieke; Beijnen, Jos H; Schellens, Jan H M; Huitema, Alwin D R (American Society for Clinical Pharmacology and Therapeutics, 2019-12)
    Capecitabine is an oral pro-drug of the anti-cancer drug 5-fluorouracil (5-FU). The primary aim of this study was to develop a pharmacokinetic model for capecitabine and its metabolites, 5'-deoxy-5-fluorocytidine (dFCR), ...
  • Cross-Cultural Validity: Canadian Norm Values of the Alberta Infant Motor Scale Evaluated for Dutch Infants 
    Suir, Imke; Boonzaaijer, Marike; Nijmolen, Petra; Westers, Paul; Nuysink, Jacqueline (Lippincott Williams & Wilkins, 2019-10)
    PURPOSE: To examine whether the Canadian normative values of the Alberta Infant Motor Scale (AIMS) are appropriate for Dutch infants. METHOD: In a cross-sectional study, 499 infants developing typically (0.5-19 months) ...
  • Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission 
    Guo, Hui; Li, Ying; Shen, Lu; Wang, Tianyun; Jia, Xiangbin; Liu, Lijuan; Xu, Tao; Ou, Mengzhu; Hoekzema, Kendra; Wu, Huidan; Gillentine, Madelyn A.; Liu, Cenying; Ni, Hailun; Peng, Pengwei; Zhao, Rongjuan; Zhang, Yu; Phornphutkul, Chanika; Stegmann, Alexander P.A.; Prada, Carlos E.; Hopkin, Robert J.; Shieh, Joseph T.; McWalter, Kirsty; Monaghan, Kristin G.; van Hasselt, Peter M.; van Gassen, Koen; Bai, Ting; Long, Min; Han, Lin; Quan, Yingting; Chen, Meilin; Zhang, Yaowen; Li, Kuokuo; Zhang, Qiumeng; Tan, Jieqiong; Zhu, Tengfei; Liu, Yaning; Pang, Nan; Peng, Jing; Scott, Daryl A.; Lalani, Seema R.; Azamian, Mahshid; Mancini, Grazia M.S.; Adams, Darius J.; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Pevsner, Jonathan; Osei-Owusu, Ikeoluwa A.; Romano, Corrado; Calabrese, Giuseppe (American Association for the Advancement of Science, 2019-09-25)
    RNA binding proteins are key players in posttranscriptional regulation and have been implicated in neurodevelopmental and neuropsychiatric disorders. Here, we report a significant burden of heterozygous, likely genedisrupting ...