Zobrazeno 1 - 10
of 502
pro vyhledávání: '"Johan T, den Dunnen"'
Autor:
Khadidja Guehlouz, Thomas Foulonneau, Patrizia Amati-Bonneau, Majida Charif, Estelle Colin, Céline Bris, Valérie Desquiret-Dumas, Dan Milea, Philippe Gohier, Vincent Procaccio, Dominique Bonneau, Johan T. den Dunnen, Guy Lenaers, Pascal Reynier, Marc Ferré
Publikováno v:
Scientific Data, Vol 8, Iss 1, Pp 1-9 (2021)
Measurement(s) sequence_variant • Phenotypic variability Technology Type(s) DNA sequencing • Ophthalmologist Factor Type(s) sequence variant • phenotype Sample Characteristic - Organism Homo sapiens Machine-accessible metadata file describing t
Externí odkaz:
https://doaj.org/article/195296a2e17347d9a874041f568137b7
Autor:
Pablo Beckers, Jean-Hubert Caberg, Vinciane Dideberg, Tamara Dangouloff, Johan T. den Dunnen, Vincent Bours, Laurent Servais, François Boemer
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Duchenne Muscular Dystrophy (DMD) is a lethal progressive muscle-wasting disease. New treatment strategies relying on DMD gene exon-skipping therapy have recently been approved and about 30% of patients could be amenable to exon 51, 53 or 45
Externí odkaz:
https://doaj.org/article/27dddf18d89948a6a54653f693dce78e
Autor:
Edward S. Tobias, Elena Avram, Patricia Calapod, Christophe Cordier, Johan T. den Dunnen, Can Ding, Vita Dolzan, Sofia Douzgou Houge, Sally Ann Lynch, James O’Byrne, Philippos Patsalis, Inga Prokopenko, Celia A. Soares, Adam P. Tobias, William G. Newman
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
The European Society of Human Genetics (ESHG) was founded in 1967 as a professional organisation for members working in genetics in clinical practice, research and education. The Society seeks the integration of scientific research and its implementa
Externí odkaz:
https://doaj.org/article/0ef6e6f826564a30b84367a9aba6aaaa
Autor:
C Coralea Stephanou, P Petros Kountouris, C Carsten W Lederer, C Celeste Bento, C Cornelis L Hartveld, J Jan Traeger-Synodinos, J John S Waye, Z Zhiyu Peng, I Irene Fylaktou, H Hashim Halim-Fikri, T Tamara T. Koopmann, L Landry Nfonsam, J Jun Sun, F Franck Nzengu-Lukusa, M Michael Angastiniotis, C Catherine Badens, B Bertha Ibarra Cortes, J Johan T. den Dunnen, J Jacques Elion, S Suthat Fucharoen, K Kyriaki Michailidou, T Thessalia Papasavva, A Antonio Piga, R Raj Ramesar, S Swee Lay Thein, L Léon Tshilolo, Z Zilfalil Bin Alwi, M Marina Kleanthous
Publikováno v:
HemaSphere, Vol 6, Pp 34-35 (2022)
Externí odkaz:
https://doaj.org/article/2ac140c7db5a45d3b792af508f21b296
Autor:
Bastien Le Roux, Guy Lenaers, Xavier Zanlonghi, Patrizia Amati-Bonneau, Floris Chabrun, Thomas Foulonneau, Angélique Caignard, Stéphanie Leruez, Philippe Gohier, Vincent Procaccio, Dan Milea, Johan T. den Dunnen, Pascal Reynier, Marc Ferré
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Abstract Background The dysfunction of OPA1, a dynamin GTPase involved in mitochondrial fusion, is responsible for a large spectrum of neurological disorders, each of which includes optic neuropathy. The database dedicated to OPA1 ( https://www.lovd.
Externí odkaz:
https://doaj.org/article/6d5fc2a1aab74e569c1b570b943614bd
Autor:
Seyed Yahya Anvar, Guy Allard, Elizabeth Tseng, Gloria M. Sheynkman, Eleonora de Klerk, Martijn Vermaat, Raymund H. Yin, Hans E. Johansson, Yavuz Ariyurek, Johan T. den Dunnen, Stephen W. Turner, Peter A. C. ‘t Hoen
Publikováno v:
Genome Biology, Vol 19, Iss 1, Pp 1-18 (2018)
Abstract Background The multifaceted control of gene expression requires tight coordination of regulatory mechanisms at transcriptional and post-transcriptional level. Here, we studied the interdependence of transcription initiation, splicing and pol
Externí odkaz:
https://doaj.org/article/bf64d263aaa54535af8e5be27b8cb977
Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
Autor:
David Monk, Joannella Morales, Johan T. den Dunnen, Silvia Russo, Franck Court, Dirk Prawitt, Thomas Eggermann, Jasmin Beygo, Karin Buiting, Zeynep Tümer, the Nomenclature group of the European Network for Human Congenital Imprinting Disorders
Publikováno v:
Epigenetics, Vol 13, Iss 2, Pp 117-121 (2018)
The analysis of DNA methylation has become routine in the pipeline for diagnosis of imprinting disorders, with many publications reporting aberrant methylation associated with imprinted differentially methylated regions (DMRs). However, comparisons b
Externí odkaz:
https://doaj.org/article/8c2fc76343b646629c10575a2b21ff9b
Publikováno v:
Human Mutation. 43:973-975
The journal Human Mutation has as its principal focus variants in the human genome, covering the entire spectrum from methods used to detect variants, to ways of answering the ultimate question: "What are the consequences of carrying a variant for th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9d40d0dceabc955ff087b845aca6928
https://doi.org/10.1002/humu.24429
https://doi.org/10.1002/humu.24429
Autor:
Melissa S Cline, Rachel G Liao, Michael T Parsons, Benedict Paten, Faisal Alquaddoomi, Antonis Antoniou, Samantha Baxter, Larry Brody, Robert Cook-Deegan, Amy Coffin, Fergus J Couch, Brian Craft, Robert Currie, Chloe C Dlott, Lena Dolman, Johan T den Dunnen, Stephanie O M Dyke, Susan M Domchek, Douglas Easton, Zachary Fischmann, William D Foulkes, Judy Garber, David Goldgar, Mary J Goldman, Peter Goodhand, Steven Harrison, David Haussler, Kazuto Kato, Bartha Knoppers, Charles Markello, Robert Nussbaum, Kenneth Offit, Sharon E Plon, Jem Rashbass, Heidi L Rehm, Mark Robson, Wendy S Rubinstein, Dominique Stoppa-Lyonnet, Sean Tavtigian, Adrian Thorogood, Can Zhang, Marc Zimmermann, BRCA Challenge Authors, John Burn, Stephen Chanock, Gunnar Rätsch, Amanda B Spurdle
Publikováno v:
PLoS Genetics, Vol 14, Iss 12, p e1007752 (2018)
The BRCA Challenge is a long-term data-sharing project initiated within the Global Alliance for Genomics and Health (GA4GH) to aggregate BRCA1 and BRCA2 data to support highly collaborative research activities. Its goal is to generate an informed and
Externí odkaz:
https://doaj.org/article/3d040669de2049168c109d5c746eac9a
Autor:
Marcel Veltrop, Laura van Vliet, Margriet Hulsker, Jill Claassens, Conny Brouwers, Cor Breukel, Jos van der Kaa, Margot M Linssen, Johan T den Dunnen, Sjef Verbeek, Annemieke Aartsma-Rus, Maaike van Putten
Publikováno v:
PLoS ONE, Vol 13, Iss 2, p e0193289 (2018)
Duchenne muscular dystrophy (DMD) is a severe muscle-wasting disease generally caused by reading frame disrupting mutations in the DMD gene resulting in loss of functional dystrophin protein. The reading frame can be restored by antisense oligonucleo
Externí odkaz:
https://doaj.org/article/7d1b65ae6d9a47e096721b71e3330f69