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UMC Repository: Recent submissions

  • Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial 
    VX17-445-103 Trial Group (Elsevier, 2019-11-23)
    Background: Cystic fibrosis transmembrane conductance regulator (CFTR) modulators correct the basic defect caused by CFTR mutations. Improvements in health outcomes have been achieved with the combination of a CFTR corrector ...
  • Characteristics, management and outcomes of very preterm triplets in 19 European regions 
    the EPICE Research Group (John Wiley & Sons Inc., 2019-12-01)
    Objective: To describe obstetrical care and in-hospital outcomes in very preterm triplet pregnancies in a European multiregional cohort. Methods: Data from a prospective population-based study of very preterm births between ...
  • How to inform relatives at risk of hereditary diseases?: A mixed-methods systematic review on patient attitudes 
    van den Heuvel, L M; Smets, E M A; van Tintelen, J P; Christiaans, I (Kluwer Academic/Human Sciences Press Inc., 2019-10)
    When a genetic disease-causing variant causing autosomal dominant diseases is identified, predictive DNA testing is possible for at-risk relatives to investigate whether they are carrying the familial variant. In current ...
  • Towards a Rational and Efficient Diagnostic Approach in Children Referred for Growth Failure to the General Paediatrician 
    Wit, Jan M; Kamp, Gerdine A; Oostdijk, Wilma; Dutch Working Group on Triage and Diagnosis of Growth Disorders in Children (S. Karger AG, 2019)
    Based on a recent Dutch national guideline, we propose a structured stepwise diagnostic approach for children with growth failure (short stature and/or growth faltering), aiming at high sensitivity for pathologic causes ...
  • The natural history of classic galactosemia: Lessons from the GalNet registry 
    Rubio-Gozalbo, M. E.; Haskovic, M.; Bosch, A. M.; Burnyte, B.; Coelho, A. I.; Cassiman, D.; Couce, M. L.; Dawson, C.; Demirbas, D.; Derks, T.; Eyskens, F.; Forga, M. T.; Grunewald, S.; Häberle, J.; Hochuli, M.; Hubert, A.; Huidekoper, H. H.; Janeiro, P.; Kotzka, J.; Knerr, I.; Labrune, P.; Landau, Y. E.; Langendonk, J. G.; Möslinger, D.; Müller-Wieland, D.; Murphy, E.; Õunap, K.; Ramadza, D.; Rivera, I. A.; Scholl-Buergi, S.; Stepien, K. M.; Thijs, A.; Tran, C.; Vara, R.; Visser, G.; Vos, R.; De Vries, M.; Waisbren, S. E.; Welsink-Karssies, M. M.; Wortmann, S. B.; Gautschi, M.; Treacy, E. P.; Berry, G. T. (BioMed Central, 2019-04-27)
    Background: Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to ...
  • Research activity and capability in the European reference network MetabERN 
    Heard, Jean Michel; Bellettato, Cinzia; Van Lingen, Corine; Scarpa, Maurizio; Debray, François Guillaume; Nassogne, Marie Cécile; Van Coster, Rudy; De Meirleir, Linda; Eyskens, François; Morava, Eva; Baric, Ivo; Kozich, Viktor; Lund, Allan Meldgaard; Germain, Dominique; Belmatoug, Nadia; Guffon, Nathalie; Labrune, Philippe; Gouya, Laurent; De Lonlay, Pascale; Schiff, Manuel; Dobbelaere, Dries; Chabrol, Brigitte; Das, Anihb Martin; Spiekerkoetter, Ute; Rutsch, Frank; Ploeckinger, Ursula; Mohnike, Klaus; Hahn, Andreas; Kölker, Stefan; Ullrich, Kurt; Balogh, István; Bembi, Bruno; Donati, Maria Alice; Gasperini, Serena; Parenti, Giancarlo; Salviati, Alessandro; Vici, Carlo Dionisi; Di Rocco, Maja; Cefalo, Graziella; Burlina, Alberto; Ceccarini, Giovanni; Federico, Antonio; Van Der Ploeg, Ans; Rubio-Gozalbo, Maria Estela; Van Spronsen, Francian; Visser, Gepke; Bosch, Annet; Tangeraas, Trine; Sanderberg, Sverre; Kieć-Wilk, Beata (BioMed Central, 2019-05-29)
    Background: MetabERN is one of the 24 European Reference Networks created according to the European Union directive 2011/24/EU on patient's rights in cross border healthcare. MetabERN associates 69 centres in 18 countries, ...
  • Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three-generation clinical report 
    Ross, Jamila; Fennis, Willem; de Leeuw, Nicole; Cune, Marco; Willemze, Annemieke; Rosenberg, Antoine; Ploos van Amstel, Hans Kristian; Créton, Marijn; van den Boogaard, Marie José (John Wiley & Sons Inc., 2019-06-01)
    Background: Wnt and Wnt-associated pathways play an important role in the genetic etiology of oligodontia, a severe form of tooth agenesis. Loss-of-function mutations in LRP6, encoding a transmembrane cell-surface protein ...
  • Pyridox (am) ine 5'-phosphate oxidase deficiency induces seizures in Drosophila melanogaster 
    Chi, Wanhao; Iyengar, Atulya S.R.; Albersen, Monique; Bosma, Marjolein; Verhoeven-Duif, Nanda M.; Wu, Chun Fang; Zhuang, Xiaoxi (Oxford University Press, 2019-09-01)
    Pyridox (am) ine 5'-phosphate oxidase (PNPO) is a rate-limiting enzyme in converting dietary vitamin B6 (VB6) to pyridoxal 5'-phosphate (PLP), the biologically active form of VB6 and involved in the synthesis of neurotransmitters ...
  • Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals 
    Oegema, Renske; Barkovich, A James; Mancini, Grazia M S; Guerrini, Renzo; Dobyns, William B (Lippincott Williams & Wilkins, 2019-10-01)
    OBJECTIVE: To better evaluate the imaging spectrum of subcortical heterotopic gray matter brain malformations (subcortical heterotopia [SUBH]), we systematically reviewed neuroimaging and clinical data of 107 affected ...
  • Current Insights into the Role of the Growth Hormone-Insulin-Like Growth Factor System in Short Children Born Small for Gestational Age 
    Renes, Judith S.; Van Doorn, Jaap; Hokken-Koelega, Anita C.S. (S. Karger AG, 2019-12)
    Background: The reason for the insufficient catch-up growth seen in 10% of children born small for gestational age (SGA) is poorly understood. Disturbances in the growth hormone (GH) - insulin-like growth factor (IGF) axis ...
  • Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines 
    Chau, Cindy; van Doorn, Remco; van Poppelen, Natasha M; van der Stoep, Nienke; Mensenkamp, Arjen R; Sijmons, Rolf H; van Paassen, Barbara W; van den Ouweland, Ans M W; Naus, Nicole C; van der Hout, Annemieke H; Potjer, Thomas P; Bleeker, Fonnet E; Wevers, Marijke R; van Hest, Liselotte P; Jongmans, Marjolijn C J; Marinkovic, Marina; Bleeker, Jaco C; Jager, Martine J; Luyten, Gregorius P M; Nielsen, Maartje (Multidisciplinary Digital Publishing Institute (MDPI), 2019-08-01)
    Germline pathogenic variants in the BRCA1-associated protein-1 (BAP1) gene cause the BAP1-tumor predisposition syndrome (BAP1-TPDS, OMIM 614327). BAP1-TPDS is associated with an increased risk of developing uveal melanoma ...
  • Ara h 7 isoforms share many linear epitopes: Are 3D epitopes crucial to elucidate divergent abilities? 
    Ehlers, Anna M.; Klinge, Marco; Suer, Waltraud; Weimann, Yvonne; Knulst, André C.; Besa, Frithjof; Le, Thuy My; Otten, Henny G. (Wiley-Blackwell, 2019-11-01)
    Background: The peanut allergens Ara h 2, h 6, and h 7 are potent allergens and can trigger severe reactions. Ara h 7 consists of three isoforms differing in their ability to induce basophil degranulation, whereas the ...
  • Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies 
    Fountain, Michael D.; Oleson, David S.; Rech, Megan E.; Segebrecht, Lara; Hunter, Jill V.; McCarthy, John M.; Lupo, Philip J.; Holtgrewe, Manuel; Moran, Rocio; Rosenfeld, Jill A.; Isidor, Bertrand; Le Caignec, Cédric; Saenz, Margarita S.; Pedersen, Robert C.; Morgan, Thomas M.; Pfotenhauer, Jean P.; Xia, Fan; Bi, Weimin; Kang, Sung Hae L.; Patel, Ankita; Krantz, Ian D.; Raible, Sarah E.; Smith, Wendy; Cristian, Ingrid; Torti, Erin; Juusola, Jane; Millan, Francisca; Wentzensen, Ingrid M.; Person, Richard E.; Küry, Sébastien; Bézieau, Stéphane; Uguen, Kévin; Férec, Claude; Munnich, Arnold; van Haelst, Mieke; Lichtenbelt, Klaske D.; van Gassen, Koen; Hagelstrom, Tanner; Chawla, Aditi; Perry, Denise L.; Taft, Ryan J.; Jones, Marilyn; Masser-Frye, Diane; Dyment, David; Venkateswaran, Sunita; Li, Chumei; Escobar, Luis F.; Horn, Denise; Spillmann, Rebecca C.; Peña, Loren; Wierzba, Jolanta; Strom, Tim M.; Parenti, Ilaria; Kaiser, Frank J.; Ehmke, Nadja; Schaaf, Christian P. (Lippincott Williams & Wilkins, 2019-08-01)
    Purpose: Haploinsufficiency of USP7, located at chromosome 16p13.2, has recently been reported in seven individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), autism ...
  • CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum 
    DDD Study (Lippincott Williams & Wilkins, 2019-12)
    Purpose: Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD). Methods: Through international collaboration we collected data from 39 ...
  • Height and body mass index as Modifiers of breast cancer risk in BRCA1/2 mutation carriers: A Mendelian randomization study 
    GEMO Study Collaborators, HEBON, EMBRACE (Oxford University Press, 2019-04-01)
    Background: BRCA1/2 mutations confer high lifetime risk of breast cancer, although other factors may modify this risk. Whether height or body mass index (BMI) modifies breast cancer risk in BRCA1/2 mutation carriers remains ...
  • Rapid Rebound of a Preexisting CXCR4-tropic Human Immunodeficiency Virus Variant After Allogeneic Transplantation With CCR5 Δ32 Homozygous Stem Cells 
    Verheyen, Jens; Thielen, Alexander; Lübke, Nadine; Dirks, Miriam; Widera, Marek; Dittmer, Ulf; Kordelas, Lambros; Däumer, Martin; De Jong, Dorien C.M.; Wensing, Annemarie M.J.; Kaiser, Rolf; Nijhuis, Monique; Esser, Stefan (Oxford University Press, 2019-02-15)
    Allogeneic stem cell transplantation (alloSCT) of homozygous CCR5 δ32 stem cells once resulted in the cure of human immunodeficiency virus (HIV) infection. We have recently reported a viral breakthrough in a similar setting. ...
  • PICU mortality of children with cancer admitted to pediatric intensive care unit a systematic review and meta-analysis 
    POKER (PICU Oncology Kids in Europe Research group) research consortium (Elsevier Ireland Ltd, 2019-10-01)
    Background: Outcomes for children diagnosed with cancer have improved dramatically over the past 20 years. However, although 40% of pediatric cancer patients require at least one intensive care admission throughout their ...
  • Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study 
    van Rijt, Willemijn J.; Ferdinandusse, Sacha; Giannopoulos, Panagiotis; Ruiter, Jos P.N.; de Boer, Lonneke; Bosch, Annet M.; Huidekoper, Hidde H.; Rubio-Gozalbo, M. Estela; Visser, Gepke; Williams, Monique; Wanders, Ronald J.A.; Derks, Terry G.J. (Springer Netherlands, 2019-09-01)
    Multiple acyl-CoA dehydrogenase deficiency (MADD) is an ultra-rare inborn error of mitochondrial fatty acid oxidation (FAO) and amino acid metabolism. Individual phenotypes and treatment response can vary markedly. We aimed ...
  • Physical activity and sedentary behaviour in children with spina bifida 
    Claridge, Everett A.; Bloemen, Manon A.T.; Rook, Rosanne A.; Obeid, Joyce; Timmons, Brian W.; Takken, Tim; Van Den Berg-Emons, Rita J.G.; De Groot, Janke F.; Gorter, Jan Willem (Wiley-Blackwell, 2019-12-01)
    Aim: To describe active and sedentary time in children with spina bifida and to compare their physical activity on weekdays versus weekends. Method: In this exploratory cross-sectional study, data from 13 Canadian and 22 ...
  • Systematic review of progressive familial intrahepatic cholestasis 
    Baker, Alastair; Kerkar, Nanda; Todorova, Lora; Kamath, Binita M; Houwen, Roderick H J (Elsevier Masson, 2019-02-01)
    BACKGROUND AND AIMS: Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of rare genetic disorders associated with bile acid secretion or transport defects. This is the first systematic review of ...