Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Iris B W Boesten"'
Autor:
Robert M. Verdijk, Tom E. J. Theunissen, Rick Kamps, Kees Schoonderwoerd, Marisa Simas-Mendes, Hubert J.M. Smeets, Irenaeus F.M. de Coo, Suzanne C E H Sallevelt, Bart de Koning, Iris B W Boesten, Gajja S. Salomons, Debby M.E.I. Hellebrekers, Bianca J.C. van den Bosch, Jo Vanoevelen, Radek Szklarczyk
Publikováno v:
European Journal of Human Genetics, 26(4), 537-551. Nature Publishing Group
European journal of human genetics, 26(4), 537-551. Nature Publishing Group
Kamps, R, Szklarczyk, R, Theunissen, T E, Hellebrekers, D M E I, Sallevelt, S C E H, Boesten, I B, de Koning, B, van den Bosch, B J, Salomons, G S, Simas-Mendes, M, Verdijk, R, Schoonderwoerd, K, de Coo, I F M, Vanoevelen, J M & Smeets, H J M 2018, ' Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease ', European Journal of Human Genetics, vol. 26, no. 4, pp. 537-551 . https://doi.org/10.1038/s41431-017-0058-2
European journal of human genetics, 26(4), 537-551. Nature Publishing Group
Kamps, R, Szklarczyk, R, Theunissen, T E, Hellebrekers, D M E I, Sallevelt, S C E H, Boesten, I B, de Koning, B, van den Bosch, B J, Salomons, G S, Simas-Mendes, M, Verdijk, R, Schoonderwoerd, K, de Coo, I F M, Vanoevelen, J M & Smeets, H J M 2018, ' Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease ', European Journal of Human Genetics, vol. 26, no. 4, pp. 537-551 . https://doi.org/10.1038/s41431-017-0058-2
This study aims to identify gene defects in pediatric cardiomyopathy and early-onset brain disease with oxidative phosphorylation (OXPHOS) deficiencies. We applied whole-exome sequencing in three patients with pediatric cardiomyopathy and early-onset
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a86b490d4a4faeaa27bba67593a36aab
https://doi.org/10.1038/s41431-017-0058-2
https://doi.org/10.1038/s41431-017-0058-2
Autor:
Bianca J.C. van den Bosch, Tom E. J. Theunissen, Erez Raz, Katsiaryna Tarbashevich, Ellen H Lambrichs, Iris B W Boesten, Marc Muller, Marie Winandy, Josien G. Derhaag, Auke B C Otten, Jo Vanoevelen, Aafke P.A. van Montfoort, H.J.M. Smeets, Mike Gerards
Publikováno v:
Cell Reports, Vol 16, Iss 3, Pp 622-630 (2016)
Cell Reports, 16(3), 622-630. Cell Press
Cell Reports, 16(3), 622-630. Cell Press
We studied the mtDNA bottleneck in zebrafish to elucidate size, timing, and variation in germline and non-germline cells. Mature zebrafish oocytes contain, on average, 19.0 × 10(6) mtDNA molecules with high variation between oocytes. During embryoge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec7246876139b6f67e55a63c5c835a0b
http://www.sciencedirect.com/science/article/pii/S221112471630763X
http://www.sciencedirect.com/science/article/pii/S221112471630763X
Autor:
I.F.M. de Coo, N. M. Mulder-den Hartog, Debby M.E.I. Hellebrekers, Hubert J.M. Smeets, Mike Gerards, Minh Nhut Nguyen, Iris B W Boesten
Publikováno v:
Clinical Genetics. 91:121-125
The inherited optic neuropathies comprise a group of genetically heterogeneous disorders causing optic nerve dysfunction. In some cases, optic neuropathies are associated with cerebellar atrophy which mainly affects the vermis. Here, we describe a Mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2ae9a011db8d4b5388824c6fba21a445
https://doi.org/10.1111/cge.12774
https://doi.org/10.1111/cge.12774
Autor:
Rick Kamps, Irenaeus F.M. de Coo, Iris B W Boesten, Bart de Koning, Hubert J.M. Smeets, Minh Nhut Nguyen, Mike Gerards, Debby M.E.I. Hellebrekers, Jo Vanoevelen
Publikováno v:
European Journal of Human Genetics, 24(4), 619-622. Nature Publishing Group
Autosomal recessive cerebellar ataxia (ARCA) is a group of neurological disorders characterized by degeneration or abnormal development of the cerebellum and spinal cord. ARCA is clinically and genetically highly heterogeneous, with over 20 genes inv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::862b1f8d456f6c6e08ee912c27b4de74
https://doi.org/10.1038/ejhg.2015.158
https://doi.org/10.1038/ejhg.2015.158
Autor:
Rick Kamps, Auke B C Otten, Mike Gerards, Iris B W Boesten, Marc Muller, Sabina J. V. Vanherle, Richard G J Dohmen, Jo Vanoevelen, Alphons P. M. Stassen, Adriana J Timmer, Michiel E. Adriaens, Hubert J.M. Smeets
Publikováno v:
Genetics, 204(4), 1423-1431. Genetics Society of America
Of all pathogenic mitochondrial DNA (mtDNA) mutations in humans, ∼25% is de novo, although the occurrence in oocytes has never been directly assessed. We used next-generation sequencing to detect point mutations directly in the mtDNA of 3–15 indi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56b808605096b289670122b14da8d69a
https://pubmed.ncbi.nlm.nih.gov/27770035
https://pubmed.ncbi.nlm.nih.gov/27770035
Autor:
Ilham Ratbi, Eveline Jongen, Kees Schoonderwoerd, Rick Kamps, Bianca J.C. van den Bosch, Wouter Coppieters, Bart de Koning, Iris B W Boesten, Jo van Oevelen, René de Coo, Isabel B. de Angst, Abdelaziz Sefiani, Latifa Karim, Mike Gerards, Hans R. Scholte, Hubert J.M. Smeets
Publikováno v:
Brain, 136, 882-890. Oxford University Press
Brain, 136(Pt 3), 882-90. Oxford University Press
Brain, 136(Pt 3), 882-90. Oxford University Press
Leigh syndrome is an early onset, often fatal progressive neurodegenerative disorder caused by mutations in the mitochondrial or nuclear DNA. Until now, mutations in more than 35 genes have been reported to cause Leigh syndrome, indicating an extreme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5a6f07be1eb858ff6946d348ad99569
https://pubmed.ncbi.nlm.nih.gov/24878502
https://pubmed.ncbi.nlm.nih.gov/24878502