Zobrazeno 1 - 10
of 284
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:
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
Autor:
Ana Gonçalves, Ana Fortuna, Yavuz Ariyurek, Márcia E. Oliveira, Goreti Nadais, Jorge Pinheiro, Johan T. den Dunnen, Mário Sousa, Jorge Oliveira, Rosário Santos
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 1, p 59 (2021)
While in most patients the identification of genetic alterations causing dystrophinopathies is a relatively straightforward task, a significant number require genomic and transcriptomic approaches that go beyond a routine diagnostic set-up. In this w
Externí odkaz:
https://doaj.org/article/835cd4b7e6a64425bb677ae1104fc224
Autor:
Pleuntje J. van der Sluijs, Mariëlle Alders, Alexander J. M. Dingemans, Kareesma Parbhoo, Bregje W. van Bon, Jennifer C. Dempsey, Dan Doherty, Johan T. den Dunnen, Erica H. Gerkes, Ilana M. Milller, Stephanie Moortgat, Debra S. Regier, Claudia A. L. Ruivenkamp, Betsy Schmalz, Thomas Smol, Kyra E. Stuurman, Catherine Vincent-Delorme, Bert B. A. de Vries, Bekim Sadikovic, Scott E. Hickey, Jill A. Rosenfeld, Isabelle Maystadt, Gijs W. E. Santen
Publikováno v:
Genes, Vol 12, Iss 8, p 1275 (2021)
ARID1B is one of the most frequently mutated genes in intellectual disability (~1%). Most variants are readily classified, since they are de novo and are predicted to lead to loss of function, and therefore classified as pathogenic according to the A
Externí odkaz:
https://doaj.org/article/4620ab4def4c476884300f873098db4c
Autor:
Rick Overkleeft, Judith Tommel, Andrea W. M. Evers, Johan T. den Dunnen, Marco Roos, Marie-José Hoefmans, Walter E. Schrader, Jesse J. Swen, Mattijs E. Numans, Elisa J. F. Houwink
Publikováno v:
Genes, Vol 11, Iss 12, p 1443 (2020)
One application of personalized medicine is the tailoring of medication to the individual, so that the medication will have the highest chance of success. In order to individualize medication, one must have a complete inventory of all current pharmac
Externí odkaz:
https://doaj.org/article/faf4c544f9924918826f88da01215ec5
Autor:
Melvin M. Evers, Hoang-Dai Tran, Ioannis Zalachoras, Barry A. Pepers, Onno C. Meijer, Johan T. den Dunnen, Gert-Jan B. van Ommen, Annemieke Aartsma-Rus, Willeke M.C. van Roon-Mom
Publikováno v:
Neurobiology of Disease, Vol 58, Iss , Pp 49-56 (2013)
Spinocerebellar ataxia type 3 is caused by a polyglutamine expansion in the ataxin-3 protein, resulting in gain of toxic function of the mutant protein. The expanded glutamine stretch in the protein is the result of a CAG triplet repeat expansion in
Externí odkaz:
https://doaj.org/article/ce973f13299e482a8c9099a6f53954e9