Zobrazeno 1 - 10
of 3 609
pro vyhledávání: '"Gilissen, A"'
Autor:
German Demidov, Burcu Yaldiz, José Garcia-Pelaez, Elke de Boer, Nika Schuermans, Liedewei Van de Vondel, Ida Paramonov, Lennart F. Johansson, Francesco Musacchia, Elisa Benetti, Gemma Bullich, Karolis Sablauskas, Sergi Beltran, Christian Gilissen, Alexander Hoischen, Stephan Ossowski, Richarda de Voer, Katja Lohmann, Carla Oliveira, Ana Topf, Lisenka E. L. M. Vissers, Solve-RD Consortium, Steven Laurie
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-24 (2024)
Abstract We report the results of a comprehensive copy number variant (CNV) reanalysis of 9171 exome sequencing datasets from 5757 families affected by a rare disease (RD). The data reanalysed was extremely heterogeneous, having been generated using
Externí odkaz:
https://doaj.org/article/4d88b3c6b5114df2a433fd422b818ed2
Autor:
Milou Looijmans, Paula von Spreckelsen, Guus Berkelmans, Arne Popma, Diana van Bergen, Renske Gilissen, Saskia Mérelle
Publikováno v:
Child and Adolescent Psychiatry and Mental Health, Vol 18, Iss 1, Pp 1-10 (2024)
Abstract Background Worldwide, suicide is one of the leading causes of death among adolescents and young adults. Given that suicide in this age group is common within vocational students, this study aims to provide insights into the prevalence, cours
Externí odkaz:
https://doaj.org/article/397a10970bad461281ba49d38035157c
Autor:
Stijn Vissers, Joni Gilissen, Joachim Cohen, Luc Deliens, Freddy Mortier, Kenneth Chambaere, Sigrid Dierickx
Publikováno v:
International Journal of Public Health, Vol 69 (2024)
ObjectivesTo explore the support needs that patients and relatives experience throughout their medical aid in dying (MAID) trajectories.MethodsA qualitative study in Belgium in 2022 using 1) semi-structured interviews with and personal written narrat
Externí odkaz:
https://doaj.org/article/ed53b0633a7e4faebee5d1fb71499a8e
Autor:
Sebastien Bouret, Emmanuel Paradis, Sandrine Prat, Laurie Castro, Pauline Perez, Emmanuel Gilissen, Cecile Garcia
Publikováno v:
eLife, Vol 12 (2024)
The diversity of cognitive skills across primates remains both a fascinating and a controversial issue. Recent comparative studies provided conflicting results regarding the contribution of social vs ecological constraints to the evolution of cogniti
Externí odkaz:
https://doaj.org/article/ff891255c71b4192add9919798501956
Autor:
Suzanne E. de Bruijn, Daan M. Panneman, Nicole Weisschuh, Elizabeth L. Cadena, Erica G. M. Boonen, Lara K. Holtes, Galuh D. N. Astuti, Frans P. M. Cremers, Nico Leijsten, Jordi Corominas, Christian Gilissen, Anna Skowronska, Jessica Woodley, Andrew D. Beggs, Vasileios Toulis, Di Chen, Michael E. Cheetham, Alison J. Hardcastle, Terri L. McLaren, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, John N. de Roach, Isabella R. Urwin, Lori S. Sullivan, Susanne Roosing
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionAutosomal dominant retinitis pigmentosa type 17 (adRP, type RP17) is caused by complex structural variants (SVs) affecting a locus on chromosome 17 (chr17q22). The SVs disrupt the 3D regulatory landscape by altering the topologically asso
Externí odkaz:
https://doaj.org/article/4befa15848f34806ac97263fee8b70c9
Autor:
Lloyd Brandts, Zlatan Mujagic, M Pierik, Tessa EH Römkens, Laura Janssen, Mariëlle Romberg-Camps, Reinier Cornelis Anthonius van Linschoten, Rachel Louise West, Lennard P L Gilissen
Publikováno v:
BMJ Open, Vol 14, Iss 10 (2024)
Introduction Crohn’s disease and ulcerative colitis are chronic inflammatory bowel diseases (IBD) with a relapsing-remitting nature. With adequate non-invasive prediction of mucosal inflammation, endoscopies can be prevented and treatment optimised
Externí odkaz:
https://doaj.org/article/28b7499ba7af431790dfa16b9f1fa13a
Autor:
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E. L. M. Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M. Butler, Michael J. Lyons, Claudia M. B. Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane McCormick, Mary Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Aleš Maver, Maria K. Haanpää, Pia Pohjola, Harri Arikka, Anneke J. A. Kievit, Camilla Calandrini, Christian Iseli, Nicolas Guex, Alexandre Reymond
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)
Abstract Background We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-in
Externí odkaz:
https://doaj.org/article/0358fc56f6054b188a138c71c996e968
Publikováno v:
JMIR Mental Health, Vol 11, p e57362 (2024)
BackgroundFor the provision of optimal care in a suicide prevention helpline, it is important to know what contributes to positive or negative effects on help seekers. Helplines can often be contacted through text-based chat services, which produce l
Externí odkaz:
https://doaj.org/article/daecd2d0aeb242ae9e4cd41cb15352ad
Autor:
Margot C A Van der Burgt, Saskia Mérelle, Willem-Paul Brinkman, Aartjan T F Beekman, Renske Gilissen
Publikováno v:
JMIR Mental Health, Vol 11, Pp e56396-e56396 (2024)
Abstract BackgroundEvery month, around 3800 people complete an anonymous self-test for suicidal thoughts on the website of the Dutch suicide prevention helpline. Although 70% score high on the severity of suicidal thoughts,
Externí odkaz:
https://doaj.org/article/ece1ad84b5e04c568a096bd389197e2f
Autor:
Roberta Zeuli, Marianthi Karali, Suzanne E. de Bruijn, Kim Rodenburg, Margherita Scarpato, Dalila Capasso, Galuh D.N. Astuti, Christian Gilissen, María Rodríguez-Hidalgo, Javier Ruiz-Ederra, Francesco Testa, Francesca Simonelli, Frans P.M. Cremers, Sandro Banfi, Susanne Roosing
Publikováno v:
HGG Advances, Vol 5, Iss 3, Pp 100314- (2024)
Summary: Inherited retinal diseases (IRDs) are a group of rare monogenic diseases with high genetic heterogeneity (pathogenic variants identified in over 280 causative genes). The genetic diagnostic rate for IRDs is around 60%, mainly thanks to the r
Externí odkaz:
https://doaj.org/article/e17626b213a24c63b6a4df65247a5db9