Recently added

DSpace/Manakin Repository

UMC Repository: Recent submissions

  • WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features 
    Skraban, Cara M; Wells, Constance F; Markose, Preetha; Cho, Megan T.; Nesbitt, Addie I; Au, P Y Billie; Begtrup, Amber; Bernat, John A; Bird, Lynne M.; Cao, Kajia; de Brouwer, Arjan P M; Denenberg, Elizabeth H; Douglas, Ganka; Gibson, Kristin M; Grand, Katheryn; Goldenberg, Alice; Innes, A. Micheil; Juusola, Jane; Kempers, Marlies; Kinning, Esther; Markie, David M; Owens, Martina M; Payne, Katelyn; Person, Richard; Pfundt, Rolph; Stocco, Amber; Turner, Claire L S; Verbeek, Nienke E.; Walsh, Laurence E; Warner, Taylor C; Wheeler, Patricia G.; Wieczorek, Dagmar; Wilkens, Alisha B; Zonneveld-Huijssoon, Evelien; Kleefstra, Tjitske; Robertson, Stephen P.; Santani, Avni; van Gassen, Koen L.I.; Deardorff, Matthew A (Cell Press, 2017-07-06)
    We report 15 individuals with de novo pathogenic variants in WDR26. Eleven of the individuals carry loss-of-function mutations, and four harbor missense substitutions. These 15 individuals comprise ten females and five ...
  • Early, Accurate Diagnosis and Early Intervention in Cerebral Palsy: Advances in Diagnosis and Treatment 
    Novak, Iona; Morgan, Cathy; Adde, Lars; Blackman, James; Boyd, Roslyn N; Brunstrom-Hernandez, Janice; Cioni, Giovanni; Damiano, Diane; Darrah, Johanna; Eliasson, Ann-Christin; de Vries, Linda S; Einspieler, Christa; Fahey, Michael T.; Fehlings, Darcy; Ferriero, Donna M; Fetters, Linda; Fiori, Simona; Forssberg, Hans; Gordon, Andrew M; Greaves, Susan; Guzzetta, Andrea; Hadders-Algra, Mijna; Harbourne, Regina; Kakooza-Mwesige, Angelina; Karlsson, Petra; Krumlinde-Sundholm, Lena; Latal, Beatrice; Loughran-Fowlds, Alison; Maitre, Nathalie; McIntyre, Sarah; Noritz, Garey; Pennington, Lindsay; Romeo, Domenico M; Shepherd, Roberta; Spittle, Alicia J.; Thornton, Marelle; Valentine, Jane; Walker, Karen; White, Robert; Badawi, Nadia (American Medical Association, 2017-09-01)
    Importance: Cerebral palsy describes the most common physical disability in childhood and occurs in 1 in 500 live births. Historically, the diagnosis has been made between age 12 and 24 months but now can be made before 6 ...
  • Effect of general anesthesia on neonatal aEEG-A cohort study of patients with non-cardiac congenital anomalies 
    Stolwijk, Lisanne J; Weeke, Lauren C; de Vries, Linda S; van Herwaarden, Maud Y A; van der Zee, David C; van der Werff, Desiree B M; Benders, Manon J N L; Toet, Mona; Lemmers, Petra M A (Public Library of Science, 2017-08)
    Introduction: The aim of the current study was to determine the effect of general anesthesia on neonatal brain activity using amplitude-integrated EEG (aEEG). Methods: A prospective cohort study of neonates (January ...
  • PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics 
    Currás-Freixes, Maria; Piñeiro-Yañez, Elena; Montero-Conde, Cristina; Apellániz-Ruiz, María; Calsina, Bruna; Mancikova, Veronika; Remacha, Laura; Richter, Susan; Ercolino, Tonino; Rogowski-Lehmann, Natalie; Deutschbein, Timo; Calatayud, María; Guadalix, Sonsoles; Álvarez-Escolá, Cristina; Lamas, Cristina; Aller, Javier; Sastre-Marcos, Julia; Lázaro, Conxi; Galofré, Juan C.; Patiño-García, Ana; Meoro-Avilés, Amparo; Balmaña-Gelpi, Judith; De Miguel-Novoa, Paz; Balbín, Milagros; Matías-Guiu, Xavier; Letón, Rocío; Inglada-Pérez, Lucía; Torres-Pérez, Rafael; Roldán-Romero, Juan M.; Rodríguez-Antona, Cristina; Fliedner, Stephanie M J; Opocher, Giuseppe; Pacak, Karel; Korpershoek, Esther; de Krijger, Ronald R.; Vroonen, Laurent; Mannelli, Massimo; Fassnacht, Martin; Beuschlein, Felix; Eisenhofer, Graeme; Cascón, Alberto; Al-Shahrour, Fátima; Robledo, Mercedes (Elsevier, 2017-07-01)
    Genetic diagnosis is recommended for all pheochromocytoma and paraganglioma (PPGL) cases, as driver mutations are identified in approximately 80% of the cases. As the list of related genes expands, genetic diagnosis becomes ...
  • Interaction between genes and macronutrient intake on the risk of developing type 2 diabetes: Systematic review and findings from European Prospective Investigation into Cancer (EPIC)-InterAct 
    Li, Sherly X.; Imamura, Fumiaki; Ye, Zheng; Schulze, Matthias B.; Zheng, Jusheng; Ardanaz, Eva; Arriola, Larraitz; Boeing, Heiner; Dow, Courtney; Fagherazzi, Guy; Franks, Paul W.; Agudo, Antonio; Grioni, Sara; Kaaks, Rudolf; Katzke, Verena A.; Key, Timothy J.; Khaw, Kay Tee; Mancini, Francesca Romana; Navarro, Carmen; Nilsson, Peter M.; Onland-Moret, N. Charlotte; Overvad, Kim; Palli, Domenico; Panico, Salvatore; Quirós, José Ramón; Rolandsson, Olov; Sacerdote, Carlotta; Sánchez, María José; Slimani, Nadia; Sluijs, Ivonne; Spijkerman, Annemieke M. W.; Tjonneland, Anne; Tumino, Rosario; Sharp, Stephen J.; Riboli, Elio; Langenberg, Claudia; Scott, Robert A.; Forouhi, Nita G.; Wareham, Nicholas J. (Elsevier, 2017-07-01)
    Background: Gene-diet interactions have been reported to contribute to the development of type 2 diabetes (T2D). However, to our knowledge, few examples have been consistently replicated to date. Objective: We aimed to ...
  • Familial liability to psychosis is a risk factor for multimorbidity in people with psychotic disorders and their unaffected siblings 
    Islam, M.A.; Khan, M. F.H.; Quee, P.J.; Snieder, H.; van den Heuvel, E. R.; Bruggeman, R.; Alizadeh, B. Z.; Bartels-Velthuis, Agna A; van Beveren, N.J.; Cahn, W.; de Haan, L.; Delespaul, Philippe; Meijer, Carin J.; Myin-Germeys, I.; Kahn, R. S.; Schirmbeck, Frederike; Simons, Claudia J.P.; van Haren, N. E.; van Os, J.; van Winkel, R.; GROUP Investigators (Cambridge University Press, 2017-09-01)
    Background Multimorbidity may impose an overwhelming burden on patients with psychosis and is affected by gender and age. Our aim is to study the independent role of familial liability to psychosis as a risk factor for ...
  • The relationship between brain volumes and intelligence in bipolar disorder 
    Vreeker, Annabel; Abramovic, Lucija; Boks, Marco P.M.; Verkooijen, Sanne; van Bergen, Annet H.; Ophoff, Roel A.; Kahn, René S.; van Haren, Neeltje E.M. (Elsevier, 2017-12-01)
    Objectives Bipolar disorder type-I (BD-I) patients show a lower Intelligence Quotient (IQ) and smaller brain volumes as compared with healthy controls. Considering that in healthy individuals lower IQ is related to smaller ...
  • The EU-AIMS Longitudinal European Autism Project (LEAP): Design and methodologies to identify and validate stratification biomarkers for autism spectrum disorders 
    Loth, Eva; Charman, Tony; Mason, Luke; Tillmann, Julian; Jones, Emily J.H.; Wooldridge, Caroline; Ahmad, Jumana; Auyeung, Bonnie; Brogna, Claudia; Ambrosino, Sara; Banaschewski, Tobias; Baron-Cohen, Simon; Baumeister, Sarah; Beckmann, Christian; Brammer, Michael; Brandeis, Daniel; Bölte, Sven; Bourgeron, Thomas; Bours, Carsten; De Bruijn, Yvette; Chakrabarti, Bhismadev; Crawley, Daisy; Cornelissen, Ineke; Acqua, Flavio Dell; Dumas, Guillaume; Durston, Sarah; Ecker, Christine; Faulkner, Jessica; Frouin, Vincent; Garces, Pilar; Goyard, David; Hayward, Hannah; Ham, Lindsay M.; Hipp, Joerg; Holt, Rosemary J.; Johnson, Mark H.; Isaksson, Johan; Kundu, Prantik; Lai, Meng Chuan; D'Ardhuy, Xavier Liogier; Lombardo, Michael V.; Lythgoe, David J; Mandl, René; Meyer-Lindenberg, Andreas; Moessnang, Carolin; Mueller, Nico; O'Dwyer, Laurence; Oldehinkel, Marianne; Oranje, Bob; Pandina, Gahan; Persico, Antonio M.; Ruigrok, Amber N V; Ruggeri, Barbara; Sabet, Jessica; Sacco, Roberto; Cáceres, Antonia San José; Simonoff, Emily; Toro, Roberto; Tost, Heike; Waldman, Jack; Williams, Steve C.R.; Zwiers, Marcel P.; Spooren, Will; Murphy, Declan G M; Buitelaar, Jan K. (BioMed Central, 2017-06-23)
    Background: The tremendous clinical and aetiological diversity among individuals with autism spectrum disorder (ASD) has been a major obstacle to the development of new treatments, as many may only be effective in particular ...
  • The EU-AIMS Longitudinal European Autism Project (LEAP): Clinical characterisation 
    Charman, Tony; Loth, Eva; Tillmann, Julian; Crawley, Daisy; Wooldridge, Caroline; Goyard, David; Ahmad, Jumana; Auyeung, Bonnie; Ambrosino, Sara; Banaschewski, Tobias; Baron-Cohen, Simon; Baumeister, Sarah; Beckmann, Christian; Bölte, Sven; Bourgeron, Thomas; Bours, Carsten; Brammer, Michael; Brandeis, Daniel; Brogna, Claudia; De Bruijn, Yvette; Chakrabarti, Bhismadev; Cornelissen, Ineke; Acqua, Flavio Dell; Dumas, Guillaume; Durston, Sarah; Ecker, Christine; Faulkner, Jessica; Frouin, Vincent; Garcés, Pilar; Ham, Lindsay; Hayward, Hannah; Hipp, Joerg; Holt, Rosemary J.; Isaksson, Johan; Johnson, Mark H.; Jones, Emily J.H.; Kundu, Prantik; Lai, Meng Chuan; D'Ardhuy, Xavier Liogier; Lombardo, Michael V.; Lythgoe, David J; Mandl, René; Mason, Luke; Meyer-Lindenberg, Andreas; Moessnang, Carolin; Mueller, Nico; O'Dwyer, Laurence; Oldehinkel, Marianne; Oranje, Bob; Pandina, Gahan; Persico, Antonio M.; Ruggeri, Barbara; Ruigrok, Amber N V; Sabet, Jessica; Sacco, Roberto; Cáceres, Antonia San Jóse; Simonoff, Emily; Toro, Roberto; Tost, Heike; Waldman, Jack; Williams, Steve C.R.; Zwiers, Marcel P.; Spooren, Will; Murphy, Declan G M; Buitelaar, Jan K. (BioMed Central, 2017-06-23)
    Background: The EU-AIMS Longitudinal European Autism Project (LEAP) is to date the largest multi-centre, multi-disciplinary observational study on biomarkers for autism spectrum disorder (ASD). The current paper describes ...
  • Comparative gut microbiota and resistome profiling of intensive care patients receiving selective digestive tract decontamination and healthy subjects 
    Buelow, Elena; Bello González, Teresita D J; Fuentes, Susana; de Steenhuijsen Piters, Wouter A A; Lahti, Leo; Bayjanov, Jumamurat R; Majoor, Eline A M; Braat, Johanna C; van Mourik, Maaike S M; Oostdijk, Evelien A N; Willems, Rob J L; Bonten, Marc J M; van Passel, Mark W J; Smidt, Hauke; van Schaik, Willem (BioMed Central Ltd., 2017-08-14)
    BACKGROUND: The gut microbiota is a reservoir of opportunistic pathogens that can cause life-threatening infections in critically ill patients during their stay in an intensive care unit (ICU). To suppress gut colonization ...
  • Atypical coverage in community-acquired pneumonia after outpatient beta-lactam monotherapy 
    van Werkhoven, Cornelis H.; van de Garde, Ewoudt M W; Oosterheert, Jan Jelrik; Postma, Douwe F.; Bonten, Marc J.M. (W.B. Saunders Ltd, 2017-08-01)
    Introduction In adults hospitalized with community-acquired pneumonia (CAP) after >48 h of outpatient beta-lactam monotherapy, coverage of atypical pathogens is recommended based on expert opinion. Methods In a post-hoc ...
  • Supine MRI for regional breast radiotherapy: imaging axillary lymph nodes before and after sentinel-node biopsy 
    van Heijst, Tristan C F; Eschbach-Zandbergen, Debora; Hoekstra, Nienke; van Asselen, Bram; Lagendijk, JJW; Verkooijen, Helena; Pijnappel, Ruud; de Waard, Stephanie; Witkamp, Arjen; van Dalen, Thijs; van den Bongard, H J G; Philippens, Marielle (IOP Publishing Ltd., 2017)
    Regional radiotherapy (RT) is increasingly used in breast cancer treatment. Conventionally, computed tomography (CT) is performed for RT planning. Lymph node (LN) target levels are delineated according to anatomical ...
  • Effect of body mass index on clinical outcome and all-cause mortality in patients undergoing transcatheter aortic valve implantation 
    Abawi, M.; Rozemeijer, R.; Agostoni, P.; van Jaarsveld, R. C.; van Dongen, C S; Voskuil, M.; Kraaijeveld, A. O.; Doevendans, P. A.F.M.; Stella, P. R. (Bohn Stafleu van Loghum, 2017-09)
    Objectives To assess the effect of body mass index (BMI) on outcome among patients with severe aortic stenosis (AS) admitted for transcatheter aortic valve implantation (TAVI). Background Being overweight or obese is ...
  • ICS teaching module: Cystometry (basic module) 
    D'Ancona, Carlos Arturo Levi; Gomes, Mario João; Rosier, Peter F W M (John Wiley & Sons Inc., 2017-09)
    Aims: To summarize the evidence background for education of good urodynamic practice, especially cystometry. Methods: A search was done in PubMed for the last 5 years of publications selecting only clinical studies, utilizing ...
  • International Continence Society Good Urodynamic Practices and Terms 2016: Urodynamics, uroflowmetry, cystometry, and pressure-flow study 
    Rosier, Peter F W M; Schaefer, Werner; Lose, Gunnar; Goldman, Howard B.; Guralnick, Michael; Eustice, Sharon; Dickinson, Tamara; Hashim, Hashim (John Wiley & Sons Inc., 2017-06)
    AIMS: The working group initiated by the ICS Standardisation Steering Committee has updated the International Continence Society Standard "Good Urodynamic Practice" published in 2002. METHODS: On the basis of the manuscript: ...
  • Intracranial aneurysms: risk factors for development and rupture 
    Kleinloog, R. (Utrecht University, 2017-10-19)
    Intracranial aneurysms occur in approximately 3% of the population. The pathogenesis of aneurysms is largely unknown, and is thought to be a complex process in which both genetic and environmental factors are involved. ...
  • Optimal treatment of acute cholecystitis 
    Loozen, C.S. (Utrecht University, 2017-09-05)
    The studies presented in this thesis focus on two main issues: treatment strategies for acute calculous cholecystitis (Part I), and the management of acute calculous cholecystitis in high-risk patients in particular (Part ...
  • Neurobiological properties of two autism-risk genes: Pten and Cntn5 
    Kleijer, Kristel T.E. (Utrecht University, 2017-08-29)
  • Cerebral changes in amyotrophiclateral sclerosis 
    Walhout, R. (Utrecht University, 2017-09-05)
  • Cerebral oxygenation in the preterm neonate 
    Dix, L.M.L. (Utrecht University, 2017-10-13)
    Although survival rates of preterm infants are improving, preterm birth is still associated with significant morbidity.The brain is one of the most vulnerable organs in preterm infants. Neonatal brain injury can have a ...