Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Vancoster, R."'
Autor:
Vancampenhout, Kim, Caljon, Ben, De Meirleir, Linda, Vanlander, Arnoud, Smet, Joél, De Paepe, Boél, Debray, François-Guillaume, Lissens, Willy, Stouffs, Katrien, Jonckheere, An, Vancoster, R., Seneca, Sara
Sequencing technologies have been evolving rapidly making it possible to analyze a complete human (g)e(x)(n)ome sequence within days. However, some of the next generation sequencing (NGS) methodologies come with a pitfall and different biases in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::88790457742202220221df80d0185e11
https://biblio.vub.ac.be/vubir/optimizing-a-massive-parallel-sequencing-methodology-for-whole-mitochondrial-genome-analysis-at-the-diagnostic-bench(93a8337e-8bac-4cbd-aaaf-50691b2d1a32).html
https://biblio.vub.ac.be/vubir/optimizing-a-massive-parallel-sequencing-methodology-for-whole-mitochondrial-genome-analysis-at-the-diagnostic-bench(93a8337e-8bac-4cbd-aaaf-50691b2d1a32).html
Autor:
Seneca, Sara, Vancampenhout, Kim, Vancoster, R., Lissens, Willy, Vanlander, A., Smet, Joél, De Paepe, Boél, Jonckheere, An, Stouffs, Katrien, Daneels, Dorien, Bonduelle, Mary-Louise, De Meirleir, Linda
Mitochondrial (mt) diseases are a heterogeneous group of disorders, caused by both nuclear and mitochondrial genome mutations. A correct diagnosis is challenging, mainly because of the absence of clear phenotype-genotype correlations, the existence o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3848::0af0a960749d2221f423d127aad62a0a
https://biblio.vub.ac.be/vubir/analysis-of-the-whole-mitochondrial-genome-translation-of-the-ion-torrent-personal-genome-machine-system-to-the-diagnostic-bench(21ee36b4-58b5-4ea1-91c3-b2a4754cb92b).html
https://biblio.vub.ac.be/vubir/analysis-of-the-whole-mitochondrial-genome-translation-of-the-ion-torrent-personal-genome-machine-system-to-the-diagnostic-bench(21ee36b4-58b5-4ea1-91c3-b2a4754cb92b).html
Autor:
Vancampenhout, Kim, Bessems, Sofie, Daneels, Dorien, Van Dyck, Gwenda, De Meirleir, Linda, Lissens, Willy, Stouffs, Katrien, Seneca, Sara, Vancoster, R.
Mitochondrial (mt) diseases are a heterogeneous group of disorders, caused by both nuclear and mt genome mutations. A correct diagnosis is challenging because of the absence of clear phenotype-genotype correlations. Current molecular diagnosis for di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3848::3b01b69a4bbd5f5e84529ca1a05083e5
https://biblio.vub.ac.be/vubir/use-of-next-generation-sequencing-ngs-in-mitochondrial-mt-disorders-whole-mitochondrial-genome-analysis(278f9b2a-23ab-4590-8150-13023639bf09).html
https://biblio.vub.ac.be/vubir/use-of-next-generation-sequencing-ngs-in-mitochondrial-mt-disorders-whole-mitochondrial-genome-analysis(278f9b2a-23ab-4590-8150-13023639bf09).html
Autor:
Seneca, Sara, Vancampenhout, Kim, Smet, Joél, Vancoster, R., Dom, L., Ullmann, Urielle, Lissens, Willy, Van Dooren, Sonia, De Meirleir, Linda
Isolated complex IV deficiency is a frequent cause of respiratory chain impairment and mitochondrial disease. Onset, nature and severity of the clinical presentation or the genotype of these patients are heterogeneous. Here, we report clinical, bioch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3848::32d709652a5562052a02b6c4bb7f006b
https://biblio.vub.ac.be/vubir/leigh-syndrome-with-neonatal-mild-complex-iv-deficiency-caused-by-cox15-gene-mutations(83a7a081-a51f-478a-82e1-c709e0a5dddd).html
https://biblio.vub.ac.be/vubir/leigh-syndrome-with-neonatal-mild-complex-iv-deficiency-caused-by-cox15-gene-mutations(83a7a081-a51f-478a-82e1-c709e0a5dddd).html
Autor:
Vancampenhout, Kim, Van Dooren, Sonia, De Meirleir, Linda, Smet, Joél, Vancoster, R., Lissens, Willy, Bonduelle, Mary-Louise, Seneca, Sara
Mitochondrial depletion syndrome (MDS) is a disorder characterized by a severe reduction of the total amount of mitochondrial DNA. This disorder is clinically heterogeneous and autosomal recessive inherited. MDS manifests either as a myopathic, encep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3848::51f562b9be047248d20b92e44f11827f
https://biblio.vub.ac.be/vubir/detection-of-mitochondrial-dna-depletion-using-relative-realtime-pcr(f5bd45ea-518b-42cd-92a7-7cc182a1d6a6).html
https://biblio.vub.ac.be/vubir/detection-of-mitochondrial-dna-depletion-using-relative-realtime-pcr(f5bd45ea-518b-42cd-92a7-7cc182a1d6a6).html
Autor:
Seneca, Sara, Smet, J., Vancoster, R., Van Dooren, Sonia, Lissens, Willy, Bonduelle, Mary-Louise, Liebaers, Ingeborg, De Meirleir, Linda
Mitochondrial DNA (mtDNA) copy number reduction, known as the mitochondrial DNA depletion syndrome (MDS), is a common cause of severe mitochondrial disorders of infancy and early childhood. MDS results from defects in nuclear encoded factors involved
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::599ac8518bb96e89959cf5b1124eeca1
https://biblio.vub.ac.be/vubir/deleterious-mutations-in-rrm2b-causing-severe-mitochondrial-dna-depletion-in-infancy(9b6e053d-7a11-4221-b240-196980bbbedd).html
https://biblio.vub.ac.be/vubir/deleterious-mutations-in-rrm2b-causing-severe-mitochondrial-dna-depletion-in-infancy(9b6e053d-7a11-4221-b240-196980bbbedd).html
Mutations in POLG1, DGUOK, TK2, SUCLG1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3848::7b09b84d2a34c61efa6f23b2cb718b56
https://biblio.vub.ac.be/vubir/deleterious-mutations-in-rrm2b-result-in-severe-reduction-of-mtdna-content-in-skeletal-muscle(1908c755-e6c1-4a18-aaf9-e7b2a0c7f1dc).html
https://biblio.vub.ac.be/vubir/deleterious-mutations-in-rrm2b-result-in-severe-reduction-of-mtdna-content-in-skeletal-muscle(1908c755-e6c1-4a18-aaf9-e7b2a0c7f1dc).html
Autor:
Vancoster, R., Smet, Joél, Lissens, Willy, De Paepe, Boél, Seneca, Sara, De Meirleir, Linda, Spilioti, M., Fitsioris, X., Evangeliou, A.
Recently, TMEM70 was identified as a novel ancillary factor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3848::474e5f173ecc5d7a5586b792f446e6a3
https://biblio.vub.ac.be/vubir/mutations-in-tmem70-causes-severe-encephalocardiomyopathy-as-well-as-mild-encephalopathy(17019e9b-a931-451e-ad56-dbb120489d9d).html
https://biblio.vub.ac.be/vubir/mutations-in-tmem70-causes-severe-encephalocardiomyopathy-as-well-as-mild-encephalopathy(17019e9b-a931-451e-ad56-dbb120489d9d).html
Autor:
Bart Dermaut, Sara Seneca, Dom, L., Joél Smet, Boél De Paepe, Tousseyn, S., Weckhuysen, S., Gewillig, M., Pals, P., Paul Parizel, Bleecker, J., Paul Boon, Linda De Meirleir, Jonghe, P., Vancoster, R., Paesschen, W., Santens, P.
Publikováno v:
Vrije Universiteit Brussel
BACKGROUND: m.14487T>C, a missense mutation (p.M63V) affecting the ND6 subunit of complex I of the mitochondrial respiratory chain, has been reported in isolated childhood cases with Leigh syndrome (LS) and progressive dystonia. Adult-onset phenotype
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e1fa98bca086388c7c387889804e5649
https://biblio.vub.ac.be/vubir/progressive-myoclonic-epilepsy-as-an-adultonset-manifestation-of-leigh-syndrome-due-to-m14487tc(7bc744d2-44e7-4e2c-bc18-4f218e9dc67a).html
https://biblio.vub.ac.be/vubir/progressive-myoclonic-epilepsy-as-an-adultonset-manifestation-of-leigh-syndrome-due-to-m14487tc(7bc744d2-44e7-4e2c-bc18-4f218e9dc67a).html
Autor:
Seneca, Sara, Dermaut, Bart, Santens, P., Dom, L., Smets, K., Ceulemans, L., Smet, Joél, De Paepe, Boél, Tousseyn, S., Weckhuysen, S., Gewillig, M., Pals, P., Parizel, Paul, De Bleecker, J., Boon, Paul, De Meirleir, Linda, De Jonghe, P., Vancoster, R., Van Paesschen, W., Lissens, Willy, Liebaers, Ingeborg
Mitochondrial disorders of the oxidative phosphorylation (OXPHOS) system affect ~1/5000 individuals in the general population and present with a surprisingly wide range of multisystemic and neuromuscular phenotypes. The m.14487T>C mutation is a known
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3848::c1eed6ecf4d0fb8c1130dc482bd3f1f4
https://biblio.vub.ac.be/vubir/progressive-myoclonic-epilepsy-as-an-adultonset-manifestation-of-leigh-syndrome-due-to-the-m14487tc-mutation-in-nd6(95747417-3e3e-4d6f-bf33-63e155d50420).html
https://biblio.vub.ac.be/vubir/progressive-myoclonic-epilepsy-as-an-adultonset-manifestation-of-leigh-syndrome-due-to-the-m14487tc-mutation-in-nd6(95747417-3e3e-4d6f-bf33-63e155d50420).html