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UMC Repository: Recent submissions

  • Basophil Stimulation and Signaling Pathways 
    Knol, E; Gibbs, B.F. (Humana Press, 2020)
    Despite the growing use of flow cytometry to analyze the functional characteristics of basophils, the intracellular signaling cascades that control their ability to elaborate various pro-allergic and inflammatory mediators ...
  • ARIA-EAACI care pathways for allergen immunotherapy in respiratory allergy 
    Bousquet, Jean; Pfaar, Oliver; Agache, Ioana; Bedbrook, Anna; Akdis, Cezmi A.; Canonica, G. Walter; Chivato, Tomas; Al-Ahmad, Mona; Abdul Latiff, Amir H.; Ansotegui, Ignacio J.; Bachert, Claus; Baharuddin, Abdullah; Bergmann, Karl Christian; Bindslev-Jensen, Carsten; Bjermer, Leif; Bonini, Matteo; Bosnic-Anticevich, Sinthia; Bosse, Isabelle; Brough, Helen A.; Brussino, Luisa; Calderon, Moises A.; Caraballo, Luis; Cardona, Victoria; Carreiro-Martins, Pedro; Casale, Tomas; Cecchi, Lorenzo; Cepeda Sarabia, Alfonso M.; Chkhartishvili, Ekaterine; Chu, Derek K.; Cirule, Ieva; Cruz, Alvaro A.; Czarlewski, Wienczyslawa; del Giacco, Stefano; Demoly, Pascal; Devillier, Philippe; Dokic, Dejan; Durham, Stephen L.; Ebisawa, Motohiro; El-Gamal✝, Yehia; Emuzyte, Regina; Gamkrelidze, Amiran; Fauquert, Jean Luc; Fiocchi, Alessandro; Fokkens, Wytske J.; Fonseca, Joao A.; Fontaine, Jean François; Gawlik, Radoslaw; Gelincik, Asli; Gemicioglu, Bilun; Gereda, Jose E.; Gerth van Wijk, Roy; Gomez, R. Maximiliano; Gotua, Maia; Grisle, Ineta; Guzmán, Maria Antonieta; Haahtela, Tari; Halken, Susanne; Heffler, Enrico; Hoffmann-Sommergruber, Karin; Hossny, Elham; Hrubiško, Martin; Irani, Carla; Ivancevich, Juan Carlos; Ispayeva, Zhanat; Julge, Kaja; Kaidashev, Igor; Kalayci, Omer; Khaitov, Musa; Klimek, Ludger; Knol, Edward; Kowalski, Marek L.; Kraxner, Helga; Kull, Inger; Kuna, Piotr; Kvedariene, Violeta; Kritikos, Vicky; Lauerma, Antti; Lau, Susanne; Laune, Daniel; Levin, Michael; Larenas-Linnemann, Desiree E.; Lodrup Carlsen, Karin C.; Lombardi, Carlo; Lourenço, Olga M.; Mahboub, Bassam; Malling, Hans Jørgen; Manning, Patrick; Marshall, Gailen D.; Melén, Erik; Meltzer, Eli O.; Miculinic, Neven; Milenkovic, Branislava; Moin, Mostafa; Montefort, Stephen; Morais-Almeida, Mario; Mortz, Charlotte G.; Mösges, Ralph; Mullol, Joaquim; Namazova Baranova, Leyla; Neffen, Hugo; Nekam, Kristof; Niedoszytko, Marek; Odemyr, Mikaëla; O'Hehir, Robyn E.; Ollert, Markus; O'Mahony, Liam; Ohta, Ken; Okamoto, Yoshitaka; Okubo, Kimi; Pajno, Giovanni B.; Palomares, Oscar; Palkonen, Susanna; Panzner, Petr; G Papadopoulos, Nikolaos; Park, Hae Sim; Passalacqua, Giovanni; Patella, Vincenzo; Pawankar, Ruby; Pham-Thi, Nhân; Plavec, Davor; Popov, Todor A.; Recto, Marysia; Regateiro, Frederico S.; Riggioni, Carmen; Roberts, Graham; Rodriguez-Gonzales, Monica; Rosario, Nelson; Rottem, Menachem; Rouadi, Philip W.; Ryan, Dermot; Samolinski, Boleslaw; Sanchez-Borges✝, Mario; Serpa, Faradiba S.; Sastre, Joaquin; Scadding, Glenis K.; Shamji, Mohamed H.; Schmid-Grendelmeier, Peter; Schünemann, Holger J.; Sheikh, Aziz; Scichilone, Nicola; Sisul, Juan Carlos; Sofiev, Mikhail; Solé, Dirceu; Sooronbaev, Talant; Soto-Martinez, Manuel; Soto-Quiros, Manuel; Sova, Milan; Schwarze, Jürgen; Skypala, Isabel; Suppli-Ulrik, Charlotte; Taborda-Barata, Luis; Todo-Bom, Ana; Torres, Maria J.; Valentin-Rostan, Marylin; Tomazic, Peter Valentin; Valero, Antonio; Toppila-Salmi, Sanna; Tsiligianni, Ioanna; Untersmayr, Eva; Urrutia-Pereira, Marilyn; Valiulis, Arunas; Valovirta, Erkka; Vandenplas, Olivier; Ventura, Maria Teresa; Vichyanond, Pakit; Wagenmann, Martin; Wallace, Dana; Walusiak-Skorupa, Jolanta; Wang, De Yun; Waserman, Susan; Wong, Gary W.K.; Yorgancioglu, Arzu; Yusuf, Osman M.; Zernotti, Mario; Zhang, Luo; Zidarn, Mihaela; Zuberbier, Torsten; Jutel, Marek (BioMed Central, 2021-06)
  • Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations 
    Rodan, Lance H; Spillmann, Rebecca C; Kurata, Harley T; Lamothe, Shawn M; Maghera, Jasmine; Jamra, Rami Abou; Alkelai, Anna; Antonarakis, Stylianos E; Atallah, Isis; Bar-Yosef, Omer; Bilan, Frédéric; Bjorgo, Kathrine; Blanc, Xavier; Van Bogaert, Patrick; Bolkier, Yoav; Burrage, Lindsay C; Christ, Björn U; Granadillo, Jorge L; Dickson, Patricia; Donald, Kirsten A; Dubourg, Christèle; Eliyahu, Aviva; Emrick, Lisa; Engleman, Kendra; Gonfiantini, Michaela Veronika; Good, Jean-Marc; Kalser, Judith; Kloeckner, Chiara; Lachmeijer, Guus; Macchiaiolo, Marina; Nicita, Francesco; Odent, Sylvie; O'Heir, Emily; Ortiz-Gonzalez, Xilma; Pacio-Miguez, Marta; Palomares-Bralo, María; Pena, Loren; Platzer, Konrad; Quinodoz, Mathieu; Ranza, Emmanuelle; Rosenfeld, Jill A; Roulet-Perez, Eliane; Santani, Avni; Santos-Simarro, Fernando; Pode-Shakked, Ben; Skraban, Cara; Slaugh, Rachel; Superti-Furga, Andrea; Thiffault, Isabelle; van Jaabrsveld, Richard H; Undiagnosed Diseases Network (Lippincott Williams & Wilkins, 2021-10)
    PURPOSE: CACNA1C encodes the alpha-1-subunit of a voltage-dependent L-type calcium channel expressed in human heart and brain. Heterozygous variants in CACNA1C have previously been reported in association with Timothy ...
  • Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia 
    Muir, Alison M; Gardner, Jennifer F; van Jaarsveld, Richard H; de Lange, Iris M; van der Smagt, Jasper J; Wilson, Golder N; Dubbs, Holly; Goldberg, Ethan M; Zitano, Lia; Bupp, Caleb; Martinez, Jose; Srour, Myriam; Accogli, Andrea; Alhakeem, Afnan; Meltzer, Meira; Gropman, Andrea; Brewer, Carole; Caswell, Richard C; Montgomery, Tara; McKenna, Caoimhe; McKee, Shane; Powell, Corinna; Vasudevan, Pradeep C; Brady, Angela F; Joss, Shelagh; Tysoe, Carolyn; Noh, Grace; Tarnopolsky, Mark; Brady, Lauren; Zafar, Muhammad; Schrier Vergano, Samantha A; Murray, Brianna; Sawyer, Lindsey; Hainline, Bryan E; Sapp, Katherine; DeMarzo, Danielle; Huismann, Darcy J; Wentzensen, Ingrid M; Schnur, Rhonda E; Monaghan, Kristin G; Juusola, Jane; Rhodes, Lindsay; Dobyns, William B; Lecoquierre, Francois; Goldenberg, Alice; Polster, Tilman; Axer-Schaefer, Susanne; Platzer, Konrad; Klöckner, Chiara; Hoffman, Trevor L; MacArthur, Daniel G; O'Leary, Melanie C; VanNoy, Grace E; England, Eleina; Varghese, Vinod C; Mefford, Heather C (Lippincott Williams & Wilkins, 2021-05)
    PURPOSE: Neurodevelopmental disorders (NDDs) encompass a spectrum of genetically heterogeneous disorders with features that commonly include developmental delay, intellectual disability, and autism spectrum disorders. We ...
  • Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants 
    Jacobs, Eva Z; Brown, Kathleen; Byler, Melissa C; D'haenens, Erika; Dheedene, Annelies; Henderson, Lindsay B; Humberson, Jennifer B; van Jaarsveld, Richard H; Kanani, Farah; Lebel, Robert Roger; Millan, Francisca; Oegema, Renske; Oostra, Ann; Parker, Michael J; Rhodes, Lindsay; Saenz, Margarita; Seaver, Laurie H; Si, Yue; Vanlander, Arnaud; Vergult, Sarah; Callewaert, Bert (Wiley-Blackwell, 2021-02)
    The CAMTA1-associated phenotype was initially defined in patients with intragenic deletions and duplications who showed nonprogressive congenital ataxia, with or without intellectual disability. Here, we describe 10 ...
  • Work-related experiences and unmet needs of patients with a malignant glioma and relevant professionals: the BrainWork study 
    Zegers, Amber Daniëlle; Coenen, Pieter; Heeren, Amy; Takke, Nadia; Ardon, Hilko; Compter, Annette; Dona, Desiree; Kouwenhoven, Mathilde; Schagen, Sanne B; de Vos, Filip; Duijts, Saskia F A (Springer, 2025-02)
    PURPOSE: Many patients with a malignant (i.e., grade II-IV) glioma are of working age, yet they are rarely included in "cancer and work" studies. Here, we explored (1) the work-related experiences and unmet needs of patients ...
  • Hoeveel gebruikers ervaren ontwenningsverschijnselen na stoppen met cannabis? 
    Batalla, A. (Uitgeverij Boom, 2021-01-20)
  • Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations. 
    Szakszon, Katalin; Lourenco, Charles Marques; Callewaert, Bert Louis; Geneviève, David; Rouxel, Flavien; Morin, Denis; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Patterson, Wesley G; Louie, Raymond; Pinto E Vairo, Filippo; Klee, Eric; Kaiwar, Charu; Gavrilova, Ralitza H; Agre, Katherine E; Jacquemont, Sebastien; Khadijé, Jizi; Giltay, Jacques; van Gassen, Koen; Merő, Gabriella; Gerkes, Erica; Van Bon, Bregje W; Rinne, Tuula; Pfundt, Rolph; Brunner, Han G; Caluseriu, Oana; Grasshoff, Ute; Kehrer, Martin; Haack, Tobias B; Khelifa, Melik Malek; Bergmann, Anke Katharina; Cueto-González, Anna Maria; Martorell, Ariadna Campos; Ramachandrappa, Shwetha; Sawyer, Lindsey B; Fasel, Pascale; Braun, Dominique; Isis, Atallah; Superti-Furga, Andrea; McNiven, Vanda; Chitayat, David; Ahmed, Syed Anas; Brennenstuhl, Heiko; Schwaibolf, Eva Mc; Battisti, Gladys; Parmentier, Benoit; Stevens, Servi J C (BMJ Publishing Group, 2024-01-19)
    BACKGROUND: Pathogenic variants in the zinc finger protein coding genes are rare causes of intellectual disability and congenital malformations. Mutations in the ZNF148 gene causing GDACCF syndrome (global developmental ...
  • Aerobic and Resistance Training Attenuate Differently Knee Joint Damage Caused by a High-Fat–High-Sucrose Diet in a Rat Model 
    Abughazaleh, Nada; Boldt, Kevin; Rios, Jaqueline Lourdes; Mattiello, Stela Marcia; Collins, Kelsey H.; Seerattan, Ruth Anne; Herzog, Walter (SAGE Publications Inc., 2024-12)
    Objective: Obesity and associated low-level local systemic inflammation have been linked to an increased rate of developing knee osteoarthritis (OA). Aerobic exercise has been shown to protect the knee from obesity-induced ...
  • Successful aortic arch cannulation and perfusion of a heart donated after circulatory death: A case report 
    Vervoorn, Mats T; van Kaam, Paul; Mokhles, Mostafa M; van der Kaaij, Niels P; Gianoli, Monica (SAGE Publications Ltd, 2024-10)
    INTRODUCTION: We describe successful aortic arch cannulation and perfusion of a heart donated after circulatory death using the Transmedics Organ Care System™. CASE REPORT: A 47-year old man developed advanced heart failure ...
  • Robust deep learning–based segmentation of glioblastoma on routine clinical MRI scans using sparsified training 
    Eijgelaar, Roelant S.; Visser, Martin; Müller, Domenique M.J.; Barkhof, Frederik; Vrenken, Hugo; van Herk, Marcel; Bello, Lorenzo; Nibali, Marco Conti; Rossi, Marco; Sciortino, Tommaso; Berger, Mitchel S.; Hervey-Jumper, Shawn; Kiesel, Barbara; Widhalm, Georg; Furtner, Julia; Robe, Pierre A.J.T.; Mandonnet, Emmanuel; Hamer, Philip C.De Witt; de Munck, Jan C.; Witte, Marnix G. (Radiological Society of North America Inc., 2020-09)
    Purpose: To improve the robustness of deep learning–based glioblastoma segmentation in a clinical setting with sparsified datasets. Materials and Methods: In this retrospective study, preoperative T1-weighted, T2-weighted, ...
  • Tricuspid Annular Plane Systolic Excursion/Systolic Pulmonary Artery Pressure Ratio and Cardiorenal Syndrome Type 2 in the Systemic Sclerosis EUSTAR Cohort 
    Colalillo, Amalia; Pellicano, Chiara; Ananyeva, Lidia P.; Hachulla, Eric; Cuomo, Giovanna; Györfi, Andrea Hermina; Czirják, László; de Vries-Bouwstra, Jeska; Mouthon, Luc; Poormoghim, Hadi; Del Galdo, Francesco; Hunzelmann, Nicolas; Spierings, Julia; Kuwana, Masataka; Rosato, Edoardo; EUSTAR collaborators (John Wiley & Sons Inc., 2025-02)
    Objective: The aim of the study was to evaluate the association between the tricuspid annular plane systolic excursion (TAPSE)/systolic pulmonary artery pressure (sPAP) ratio and estimated glomerular filtration rate (eGFR) ...
  • Neurological Outcomes and the Need for Retreatments Among Multiple Myeloma Patients With High-Grade Spinal Cord Compression: Radiotherapy vs Surgery 
    Zijlstra, Hester; Crawford, Alexander M; Striano, Brendan M; Pierik, Robert-Jan; Tobert, Daniel G; Wolterbeek, Nienke; Delawi, Diyar; Terpstra, Wim E; Kempen, Diederik H R; Verlaan, Jorrit-Jan; Schwab, Joseph H (SAGE Publications Inc., 2025-03)
    STUDY DESIGN: Retrospective cohort study. OBJECTIVES: Up to 30% of Multiple Myeloma (MM) patients are expected to experience Epidural Spinal Cord Compression (ESCC) during the course of their disease. To prevent irreversible ...
  • Peripheral intravenous therapy infiltration/extravasation (PIVIE) risks and the potential for earlier notification of events using a novel sensor technology in a neonatal population 
    van Rens, Matheus Fpt; Vijlbrief, Daniel; Braun, Sophie; Hugill, Kevin; van Loon, Fredericus Hj; van de Hoogen, Agnes (Wichtig Publishing, 2024-11)
    BACKGROUND: Intravenous (IV) therapy using short peripheral IV catheters (PIVC) is commonplace with neonatal patients. However, this therapy is associated with high complication rates including the leakage of infused fluids ...
  • Recent updates in the indolent lymphomas: Update on marginal zone lymphoma and Waldenström's macroglobulinemia 
    Amaador, Karima; Thieblemont, Catherine; Trotman, Judith; Minnema, Monique C (John Wiley & Sons Inc., 2024-11)
    Marginal Zone Lymphoma (MZL) and Waldenström's Macroglobulinemia (WM) are indolent lymphomas that both arise from post germinal center lymphocytes. Both can secrete a monoclonal protein but high levels are mostly only seen ...
  • Positive and negative survivor-specific psychosocial consequences of childhood cancer: the DCCSS-LATER 2 psycho-oncology study 
    Maas, Anne; Maurice-Stam, Heleen; van der Aa-van Delden, Alied M; van Dalen, Elvira C; van Dulmen-den Broeder, Eline; Tissing, Wim J E; Loonen, Jacqueline J; van der Pal, Helena J H; de Vries, Andrica C H; van den Heuvel-Eibrink, Marry M; Janssens, Geert O; Ronckers, Cécile; Neggers, Sebastian; Bresters, Dorine; Louwerens, Marloes; Versluys, Birgitta A B; van der Heiden-van der Loo, Margriet; Kremer, Leontien C M; van Gorp, Marloes; Grootenhuis, Martha A; Dutch LATER Study group (Springer, 2024-10)
    Purpose: Numerous studies investigated generic psychosocial outcomes in survivors of childhood cancer (CCS). The present study aimed to describe survivor-specific psychosocial consequences in CCS, and to identify ...
  • Preliminary audiologic and peri-operative outcomes of the Sophono™ transcutaneous bone conduction device: A systematic review 
    Bezdjian, Aren; Bruijnzeel, Hanneke; Daniel, Sam J.; Grolman, Wilko; Thomeer, Hans G.X.M. (Elsevier Ireland Ltd, 2017-10)
    Objective To delineate the auditory functional improvement and peri-operative outcomes of the Sophono™ transcutaneous bone conduction device. Methods Eligible articles presenting patients implanted with the Sophono™ were ...
  • Response to “How to quantify the ‘auditory gain’ of a bone-conduction device; comment to the systematic review by Bezdjian et al.” 
    Bezdjian, Aren; Bruijnzeel, Hanneke; Daniel, Sam J.; Thomeer, Hans G.X.M. (Elsevier Ireland Ltd, 2018-06)
  • Low-Frequency Sensorineural Hearing Loss in Familial Hemophagocytic Lymphohistiocytosis Type 5 
    Bezdjian, Aren; Bruijnzeel, Hanneke; Pagel, Julia; Daniel, Sam J.; Thomeer, Hans G.X.M. (SAGE Publications Inc., 2018-06-01)
    Introduction: Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disease affecting the cytotoxic pathway. Due to the recent advances in molecular diagnosis, immuno-chemo therapy, and hematopoietic ...
  • The effectiveness of hyperbaric oxygen in patients with idiopathic sudden sensorineural hearing loss: a systematic review 
    Eryigit, Burak; Ziylan, Fuat; Yaz, Furkan; Thomeer, Hans G.X.M. (Springer-Verlag, 2018-12-01)
    Objective: To evaluate the effectiveness of hyperbaric oxygen in the treatment of patients with idiopathic sudden sensorineural hearing loss (ISSHL). Data sources: An Embase, MEDLINE and Cochrane search were utilised to ...