Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Evelien Zonneveld‐Huijssoon"'
Autor:
Nathan Buijsse, Floor E. Jansen, Charlotte W. Ockeloen, Marjan J. A. vanKempen, Shimriet Zeidler, Marjolein H. Willemsen, Emanuela Scarano, Sonia Monticone, Evelien Zonneveld‐Huijssoon, Karen J. Low, Allan Bayat, Sanjay M. Sisodiya, Debopam Samanta, Gaetan Lesca, Danielle deJong, Jaqcues C. Giltay, Nienke E. Verbeek, Tjitske Kleefstra, Eva H. Brilstra, Danique R. M. Vlaskamp
Publikováno v:
Epilepsia Open, Vol 8, Iss 4, Pp 1300-1313 (2023)
Abstract Objective The aim of this study was to describe the epilepsy phenotype in a large international cohort of patients with KBG syndrome and to study a possible genotype–phenotype correlation. Methods We collected data on patients with ANKRD11
Externí odkaz:
https://doaj.org/article/aed334dc863943859f018af92b96be34
Autor:
Anne Hebert, Annet Simons, Janneke HM Schuurs-Hoeijmakers, Hans JPM Koenen, Evelien Zonneveld-Huijssoon, Stefanie SV Henriet, Ellen JH Schatorjé, Esther PAH Hoppenreijs, Erika KSM Leenders, Etienne JM Janssen, Gijs WE Santen, Sonja A de Munnik, Simon V van Reijmersdal, Esther van Rijssen, Simone Kersten, Mihai G Netea, Ruben L Smeets, Frank L van de Veerdonk, Alexander Hoischen, Caspar I van der Made
Publikováno v:
eLife, Vol 11 (2022)
Background: De novo variants (DNVs) are currently not routinely evaluated as part of diagnostic whole exome sequencing (WES) analysis in patients with suspected inborn errors of immunity (IEI). Methods: This study explored the potential added value o
Externí odkaz:
https://doaj.org/article/1943927502a7424bb65899a7d0d2b45e
Autor:
Davor Lessel, Daniela M. Zeitler, Margot R. F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Alexander Bartholomäus, Victoria Martens, Astrid Bruckmann, Veronika Graus, Allyn McConkie-Rosell, Marie McDonald, Bernarda Lozic, Ee-Shien Tan, Erica Gerkes, Jessika Johannsen, Jonas Denecke, Aida Telegrafi, Evelien Zonneveld-Huijssoon, Henny H. Lemmink, Breana W. M. Cham, Tanja Kovacevic, Linda Ramsdell, Kimberly Foss, Diana Le Duc, Diana Mitter, Steffen Syrbe, Andreas Merkenschlager, Margje Sinnema, Bianca Panis, Joanna Lazier, Matthew Osmond, Taila Hartley, Jeremie Mortreux, Tiffany Busa, Chantal Missirian, Pankaj Prasun, Sabine Lüttgen, Ilaria Mannucci, Ivana Lessel, Claudia Schob, Stefan Kindler, John Pappas, Rachel Rabin, Marjolein Willemsen, Thatjana Gardeitchik, Katharina Löhner, Patrick Rump, Kerith-Rae Dias, Carey-Anne Evans, Peter Ian Andrews, Tony Roscioli, Han G. Brunner, Chieko Chijiwa, M. E. Suzanne Lewis, Rami Abou Jamra, David A. Dyment, Kym M. Boycott, Alexander P. A. Stegmann, Christian Kubisch, Ene-Choo Tan, Ghayda M. Mirzaa, Kirsty McWalter, Tjitske Kleefstra, Rolph Pfundt, Zoya Ignatova, Gunter Meister, Hans-Jürgen Kreienkamp
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
AGO2 binds to miRNAs to repress expression of cognate target mRNAs. Here the authors report that heterozygous AGO2 mutations result in defects in neurological development and impair RNA interference.
Externí odkaz:
https://doaj.org/article/d67d1cc583c34e7f9e0a8f4ce72015a2
Autor:
Kim Elsink, Manon M. H. Huibers, Iris H. I. M. Hollink, Annet Simons, Evelien Zonneveld-Huijssoon, Lars T. van der Veken, Helen L. Leavis, Stefanie S. V. Henriet, Marcel van Deuren, Frank L. van de Veerdonk, Judith Potjewijd, Dagmar Berghuis, Virgil A. S. H. Dalm, Clementien L. Vermont, Annick A. J. M. van de Ven, Annechien J. A. Lambeck, Kristin M. Abbott, P. Martin van Hagen, Godelieve J. de Bree, Taco W. Kuijpers, Geert W. J. Frederix, Mariëlle E. van Gijn, Joris M. van Montfrans, the Genetics First for Primary Immunodeficiency Disorders Consortium, Aerde van, KJ, Altenburg, J, Armbrust W, Barendregt, BH, Berg van den, JM, Bredius, RGM, Buddingh, EP, Burg van der, M, Ellerbroek, PM, Ernst, RF, Fraaij, PLA, Hermans, M, Hoischen, A, Hout van der, AH, Jansen, MHA, Jolink, H, Jonkers, RE, Laar van, JAM, Leeuw de, K, Legger, GE, Leijten, EFA, Limper, M, Lindemans, CA, Oever ten, J, Pieterse, M, Rombach, SM, Rossum van, AMC, Rutgers, A, Santen, GWE, Schölvinck, EH, Simon, A, Stol, K, Vervenne RML
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
ObjectiveInborn errors of immunity (IEI) are a heterogeneous group of disorders, affecting different components of the immune system. Over 450 IEI related genes have been identified, with new genes continually being recognized. This makes the early a
Externí odkaz:
https://doaj.org/article/1589a20c7b90482f8384cabc050aeb63
Autor:
Patrick Deelen, Sipko van Dam, Johanna C. Herkert, Juha M. Karjalainen, Harm Brugge, Kristin M. Abbott, Cleo C. van Diemen, Paul A. van der Zwaag, Erica H. Gerkes, Evelien Zonneveld-Huijssoon, Jelkje J. Boer-Bergsma, Pytrik Folkertsma, Tessa Gillett, K. Joeri van der Velde, Roan Kanninga, Peter C. van den Akker, Sabrina Z. Jan, Edgar T. Hoorntje, Wouter P. te Rijdt, Yvonne J. Vos, Jan D. H. Jongbloed, Conny M. A. van Ravenswaaij-Arts, Richard Sinke, Birgit Sikkema-Raddatz, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Lude Franke
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
A genetic diagnosis remains unattainable for many individuals with a rare disease because of incomplete knowledge about the genetic basis of many diseases. Here, the authors present the web-based tool GADO (GeneNetwork Assisted Diagnostic Optimizatio
Externí odkaz:
https://doaj.org/article/8256eeb26c5746a9a9e8d6dcd1fd68ae
Autor:
Peer Arts, Annet Simons, Mofareh S. AlZahrani, Elanur Yilmaz, Eman AlIdrissi, Koen J. van Aerde, Njood Alenezi, Hamza A. AlGhamdi, Hadeel A. AlJubab, Abdulrahman A. Al-Hussaini, Fahad AlManjomi, Alaa B. Alsaad, Badr Alsaleem, Abdulrahman A. Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker-Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad K. Habazi, Jayne Y. Hehir-Kwa, Stefanie S. Henriet, Esther P. Hoppenreijs, Sarah Hortillosa, Chantal H. Kerkhofs, Riikka Keski-Filppula, Stefan H. Lelieveld, Khurram Lone, Marius A. MacKenzie, Arjen R. Mensenkamp, Jukka Moilanen, Marcel Nelen, Jaap ten Oever, Judith Potjewijd, Pieter van Paassen, Janneke H. M. Schuurs-Hoeijmakers, Anna Simon, Tomasz Stokowy, Maartje van de Vorst, Maaike Vreeburg, Anja Wagner, Gijs T. J. van Well, Dimitra Zafeiropoulou, Evelien Zonneveld-Huijssoon, Joris A. Veltman, Wendy A. G. van Zelst-Stams, Eissa A. Faqeih, Frank L. van de Veerdonk, Mihai G. Netea, Alexander Hoischen
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-15 (2019)
Abstract Background Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single ge
Externí odkaz:
https://doaj.org/article/1fc9affd647845a3af9208be55433db4
Autor:
Sarah T A Roord, Evelien Zonneveld-Huijssoon, Tho Le, Gisella Puga Yung, Eva Koffeman, Arash Ronaghy, Negar Ghahramani, Paola Lanza, Rosario Billetta, Berent J Prakken, Salvatore Albani
Publikováno v:
PLoS ONE, Vol 1, p e87 (2006)
Innate and adaptive immunity contribute to the pathogenesis of autoimmune arthritis by generating and maintaining inflammation, which leads to tissue damage. Current biological therapies target innate immunity, eminently by interfering with single pr
Externí odkaz:
https://doaj.org/article/fea06d084d3c472bbddedb5d8ff6757a
Autor:
Alessandra Rossi, Lot Snijders Blok, Sonja Neuser, Chiara Klöckner, Konrad Platzer, Laurence Olivier Faivre, Heike Weigand, Maria L. Dentici, Marco Tartaglia, Marcello Niceta, Paolo Alfieri, Siddharth Srivastava, David Coulter, Lacey Smith, Kristin Vinorum, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Deniz Torun, Mutluay Arslan, Mathilde F. Lauridsen, Oliver Murch, Rachel Irving, Sally A. Lynch, Sarju G. Mehta, Jenny Carmichael, Evelien Zonneveld‐Huijssoon, Bert de Vries, Tjitske Kleefstra, Katrine M. Johannesen, Ian T. Westphall, Susan S. Hughes, Sarah Smithson, Julie Evans, Tracy Dudding‐Byth, Marleen Simon, Ellen van Binsbergen, Johanna C. Herkert, Gea Beunders, Henry Oppermann, Mert Bakal, Rikke S. Møller, Guido Rubboli, Allan Bayat
Publikováno v:
Clinical Genetics.
Autor:
Anne Hebert, Annet Simons, Janneke HM Schuurs-Hoeijmakers, Hans JPM Koenen, Evelien Zonneveld-Huijssoon, Stefanie SV Henriet, Ellen JH Schatorjé, Esther PAH Hoppenreijs, Erika KSM Leenders, Etienne JM Janssen, Gijs WE Santen, Sonja A de Munnik, Simon V van Reijmersdal, Esther van Rijssen, Simone Kersten, Mihai G Netea, Ruben L Smeets, Frank L van de Veerdonk, Alexander Hoischen, Caspar I van der Made
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f481862f12972296cd04bdeb05599e05
https://doi.org/10.7554/elife.78469.sa2
https://doi.org/10.7554/elife.78469.sa2
Autor:
Seth I. Berger, Maximilian Muenke, Omkar Hajirnis, Paul Kruszka, David R. Murdock, Raymond J. Louie, Joshua L. Everson, Luis F. Escobar, Chitra Prasad, Maria Iascone, Hülya Kayserili, Raymond A. Poot, Valentina Casa, Nancy J. Clegg, Evelien Zonneveld-Huijssoon, Anna Cereda, Jenna Gaesser, Meena Balasubramanian, Nicole Corsten-Janssen, Mike R. Dekker, Jacob Hogue, Mark J. Stephan, Mauricio R. Delgado, Ariel F. Martinez, Oebele F. Brouwer, Allison Schreiber, Ping Hu, Angie W Lichty, Vickie Zurcher, Kerstin S. Wendt, Karin Weiss, Eloise J. Prijoles, Robert J. Lipinski, Momoko Tanima-Nagai, Matthew A. Deardorff
Publikováno v:
Brain
Paediatrics Publications
Brain, 142, 2631-2643. Oxford University Press
Paediatrics Publications
Brain, 142, 2631-2643. Oxford University Press
Marked by incomplete division of the embryonic forebrain, holoprosencephaly is one of the most common human developmental disorders. Despite decades of phenotype-driven research, 80-90% of aneuploidy-negative holoprosencephaly individuals with a prob