Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Rita D. Brandão"'
Autor:
Thomas L. P. Couvreur, Andrew J. Helmstetter, Erik J. M. Koenen, Kevin Bethune, Rita D. Brandão, Stefan A. Little, Hervé Sauquet, Roy H. J. Erkens
Publikováno v:
Frontiers in Plant Science, Vol 9 (2019)
Targeted enrichment and sequencing of hundreds of nuclear loci for phylogenetic reconstruction is becoming an important tool for plant systematics and evolution. Annonaceae is a major pantropical plant family with 110 genera and ca. 2,450 species, oc
Externí odkaz:
https://doaj.org/article/eb910eef92f742d18998fa81ba8dfd2b
Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification
Autor:
Rick Kamps, Rita D. Brandão, Bianca J. van den Bosch, Aimee D. C. Paulussen, Sofia Xanthoulea, Marinus J. Blok, Andrea Romano
Publikováno v:
International Journal of Molecular Sciences, Vol 18, Iss 2, p 308 (2017)
Next-generation sequencing (NGS) technology has expanded in the last decades with significant improvements in the reliability, sequencing chemistry, pipeline analyses, data interpretation and costs. Such advances make the use of NGS feasible in clini
Externí odkaz:
https://doaj.org/article/471024d0682541bdbb8e44c2c906de0c
Autor:
Ana Vega, Logan C. Walker, Demis Tserpelis, Rita D. Brandão, Tim De Meyer, Klaas Mensaert, Amanda B. Spurdle, Anders Kvist, Vanessa Lattimore, M.N. Xenakis, Irene López-Perolio, Marinus J. Blok, Orland Diez, Miguel de la Hoya, Sara Gutiérrez-Enríquez
Publikováno v:
International Journal of Cancer
International Journal of Cancer, 145(2), 401-414. Wiley
International Journal of Cancer, 145(2), 401-414. Wiley
A subset of genetic variants found through screening of patients with hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome impact RNA splicing. Through target enrichment of the transcriptome, it is possible to perform deep‐sequen
Autor:
Roy H. J. Erkens, Erik Smets, Lars W. Chatrou, Rita D. Brandão, Jan J. Wieringa, Jenifer de Carvalho Lopes, Paul H. Hoekstra
Publikováno v:
Molecular Phylogenetics and Evolution, 114, 63-72. Elsevier Science
Molecular Phylogenetics and Evolution 114 (2017)
Molecular Phylogenetics and Evolution, 114, 63-72
Molecular Phylogenetics and Evolution 114 (2017)
Molecular Phylogenetics and Evolution, 114, 63-72
The molecular clock hypothesis is an important concept in biology. Deviations from a constant rate of nucleotide substitution have been found widely among lineages, genomes, genes and individual sites. Phylogenetic research can accommodate for these
Autor:
Andrew J. Helmstetter, Stefan A. Little, Thomas L. P. Couvreur, Erik J. M. Koenen, Hervé Sauquet, Roy H. J. Erkens, Rita D. Brandão, Kevin Bethume
Publikováno v:
Frontiers in Plant Science
Frontiers in Plant Science, Frontiers, 2019, 9, pp.1941. ⟨10.3389/fpls.2018.01941⟩
Frontiers in Plant Science, 2019, 9, pp.1941. ⟨10.3389/fpls.2018.01941⟩
Frontiers in Plant Science, 9:1941. Frontiers Media S.A.
Frontiers in Plant Science, Vol 9 (2019)
Frontiers in Plant Science, Frontiers, 2019, 9, pp.1941. ⟨10.3389/fpls.2018.01941⟩
Frontiers in Plant Science, 2019, 9, pp.1941. ⟨10.3389/fpls.2018.01941⟩
Frontiers in Plant Science, 9:1941. Frontiers Media S.A.
Frontiers in Plant Science, Vol 9 (2019)
Targeted enrichment and sequencing of hundreds of nuclear loci for phylogenetic reconstruction is becoming an important tool for plant systematics and evolution. Annonaceae is a major pantropical plant family with 109 genera and ca. 2450 species, occ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6688ee48fb4986a95bffa2488eb0ad2
https://hal.umontpellier.fr/hal-03364136/document
https://hal.umontpellier.fr/hal-03364136/document
Autor:
Orland Diez, Mads Thomassen, Rita D. Brandão, Samantha C Ayoub, Phillip J. Whiley, Olufunmilayo I. Olopade, Mara Colombo, Claude Houdayer, Gorka Ruiz de Garibay, Diana Baralle, Conxi Lázaro, Kumar Lal, Paolo Radice, Demis Tserpelis, Miguel de la Hoya, Sara Gutiérrez-Enríquez, Gemma Montalban, Logan C. Walker, Barbara Wappenschmidt, Michael T. Parsons, Ana Vega, Ana Blanco, Alexandra Becker, Marta Santamariña, Irene López-Perolio, Bifeng Zhang, Marinus J. Blok, Amanda B. Spurdle, James D. Fackenthal, kConFab Investigators, Giovanna De Vecchi, Toshio F. Yoshimatsu
Publikováno v:
Journal of Medical Genetics, 53(8), 548-558. BMJ Publishing Group
Fackenthal, J D, Yoshimatsu, T, Zhang, B, de Garibay, G R, Colombo, M, De Vecchi, G, Ayoub, S C, Lal, K, Olopade, O I, Vega, A, Santamariña, M, Blanco, A, Wappenschmidt, B, Becker, A, Houdayer, C, Walker, L C, López-Perolio, I, Thomassen, M, Parsons, M, Whiley, P, Blok, M J, Brandão, R D, Tserpelis, D, Baralle, D, Montalban, G, Gutiérrez-Enríquez, S, Díez, O, Lázaro, C, Spurdle, A B, Radice, P, de la Hoya, M & kConFab Investigators 2016, ' Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples ', Journal of Medical Genetics, vol. 53, no. 8, pp. 548-558 . https://doi.org/10.1136/jmedgenet-2015-103570
Fackenthal, J D, Yoshimatsu, T, Zhang, B, de Garibay, G R, Colombo, M, De Vecchi, G, Ayoub, S C, Lal, K, Olopade, O I, Vega, A, Santamariña, M, Blanco, A, Wappenschmidt, B, Becker, A, Houdayer, C, Walker, L C, López-Perolio, I, Thomassen, M, Parsons, M, Whiley, P, Blok, M J, Brandão, R D, Tserpelis, D, Baralle, D, Montalban, G, Gutiérrez-Enríquez, S, Díez, O, Lázaro, C, Spurdle, A B, Radice, P, de la Hoya, M & kConFab Investigators 2016, ' Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples ', Journal of Medical Genetics, vol. 53, no. 8, pp. 548-558 . https://doi.org/10.1136/jmedgenet-2015-103570
BACKGROUND: BRCA1 and BRCA2 are the two principal tumour suppressor genes associated with inherited high risk of breast and ovarian cancer. Genetic testing of BRCA1/2 will often reveal one or more sequence variants of uncertain clinical significance,
Autor:
Marine Guillaud-Bataille, Pascaline Gaidrat, Ana Vega, Dominique Stoppa-Lyonnet, Inge Søkilde, Mads Thomassen, Ana Peixoto, Florence Coulet, Claude Houdayer, Nancy Uhrhammer, Danièle Muller, Ambre Petitalot, Sandrine M. Caputo, Rita D. Brandão, Hélène Tubeuf, Laurent Castera, Virginie Moncoutier, Olga M. Sinilnikova, Aura Carreira, Alexandra Martins, Gaia Castelain, Francesca Damiola, Åsa Ehlén, Etienne Rouleau, Capucine Delnatte, Nadia Boutry-Kryza, Mélanie Léoné, Myriam Bronner, Manuel R. Teixeira, Sophie Demontety, Henriette Roed Nielsen, Amanda B. Spurdle, Uffe Birk Jensen, Sophie Krieger, Cédrick Lefol
Publikováno v:
OncoTarget, 9(25), 17334-17348. Impact Journals LLC
Jensen, U B 2018, ' Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer. ' . https://doi.org/10.18632/oncotarget.24671
Caputo, S M, Léone, M, Damiola, F, Ehlen, A, Carreira, A, Gaidrat, P, Martins, A, Brandão, R D, Peixoto, A, Vega, A, Houdayer, C, Delnatte, C, Bronner, M, Muller, D, Castera, L, Guillaud-Bataille, M, Søkilde, I, Uhrhammer, N, Demontety, S, Tubeuf, H, Castelain, G, French COVAR group collaborators, Jensen, U B, Petitalot, A, Krieger, S, Lefol, C, Moncoutier, V, Boutry-Kryza, N, Nielsen, H R, Silninilkova, O, Stoppa-Lyonnet, D, Spurdle, A B, Teixeira, M R, Coulet, F, Thomassen, M & Rouleau, E 2018, ' Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer ', OncoTarget, vol. 9, no. 25, pp. 17334-17348 . https://doi.org/10.18632/oncotarget.24671
Oncotarget
Oncotarget, Impact journals, 2018, 9 (9), pp.17334-17348. ⟨10.18632/oncotarget.24671⟩
Caputo, S M, Léone, M, Damiola, F, Ehlen, A, Carreira, A, Gaidrat, P, Martins, A, Brandão, R D, Peixoto, A, Vega, A, Houdayer, C, Delnatte, C, Bronner, M, Muller, D, Castera, L, Guillaud-Bataille, M, Pedersen, I S, Uhrhammer, N, Demontety, S, Tubeuf, H, Castelain, G, French COVAR group collaborators, Jensen, U B, Petitalot, A, Krieger, S, Lefol, C, Moncoutier, V, Boutry-Kryza, N, Nielsen, H R, Sinilnikova, O, Stoppa-Lyonnet, D, Spurdle, A B, Teixeira, M R, Coulet, F, Thomassen, M & Rouleau, E 2018, ' Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer ', Oncotarget, vol. 9, no. 25, pp. 17334-17348 . https://doi.org/10.18632/oncotarget.24671
French COVAR group collaborators 2018, ' Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer ', Oncotarget, vol. 9, no. 25, pp. 17334-17348 . https://doi.org/10.18632/oncotarget.24671
Oncotarget, 2018, 9 (9), pp.17334-17348. ⟨10.18632/oncotarget.24671⟩
Jensen, U B 2018, ' Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer. ' . https://doi.org/10.18632/oncotarget.24671
Caputo, S M, Léone, M, Damiola, F, Ehlen, A, Carreira, A, Gaidrat, P, Martins, A, Brandão, R D, Peixoto, A, Vega, A, Houdayer, C, Delnatte, C, Bronner, M, Muller, D, Castera, L, Guillaud-Bataille, M, Søkilde, I, Uhrhammer, N, Demontety, S, Tubeuf, H, Castelain, G, French COVAR group collaborators, Jensen, U B, Petitalot, A, Krieger, S, Lefol, C, Moncoutier, V, Boutry-Kryza, N, Nielsen, H R, Silninilkova, O, Stoppa-Lyonnet, D, Spurdle, A B, Teixeira, M R, Coulet, F, Thomassen, M & Rouleau, E 2018, ' Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer ', OncoTarget, vol. 9, no. 25, pp. 17334-17348 . https://doi.org/10.18632/oncotarget.24671
Oncotarget
Oncotarget, Impact journals, 2018, 9 (9), pp.17334-17348. ⟨10.18632/oncotarget.24671⟩
Caputo, S M, Léone, M, Damiola, F, Ehlen, A, Carreira, A, Gaidrat, P, Martins, A, Brandão, R D, Peixoto, A, Vega, A, Houdayer, C, Delnatte, C, Bronner, M, Muller, D, Castera, L, Guillaud-Bataille, M, Pedersen, I S, Uhrhammer, N, Demontety, S, Tubeuf, H, Castelain, G, French COVAR group collaborators, Jensen, U B, Petitalot, A, Krieger, S, Lefol, C, Moncoutier, V, Boutry-Kryza, N, Nielsen, H R, Sinilnikova, O, Stoppa-Lyonnet, D, Spurdle, A B, Teixeira, M R, Coulet, F, Thomassen, M & Rouleau, E 2018, ' Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer ', Oncotarget, vol. 9, no. 25, pp. 17334-17348 . https://doi.org/10.18632/oncotarget.24671
French COVAR group collaborators 2018, ' Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer ', Oncotarget, vol. 9, no. 25, pp. 17334-17348 . https://doi.org/10.18632/oncotarget.24671
Oncotarget, 2018, 9 (9), pp.17334-17348. ⟨10.18632/oncotarget.24671⟩
International audience; Germline pathogenic variants in the BRCA2 gene are associated with a cumulative high risk of breast/ovarian cancer. Several BRCA2 variants result in complete loss of the exon-3 at the transcript level. The pathogenicity of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02d2619119e9c9a6b8e76d65fd9554d2
https://cris.maastrichtuniversity.nl/en/publications/8b131d59-e5b5-4cbb-a8c0-86e0cc1ae747
https://cris.maastrichtuniversity.nl/en/publications/8b131d59-e5b5-4cbb-a8c0-86e0cc1ae747
Publikováno v:
Human Reproduction, 28(8), 2308-2311. Oxford University Press
STUDY QUESTION Can we confirm in our population whether FMRI low sub-genotypes are associated with BRCA1/2 mutations, as recently proposed? SUMMARY ANSWER Our results indicate that the distribution of the FMR1 sub-genotypes in female BRCA1/2-mutation
Publikováno v:
Clinical Science, 130(7), 463-478. Portland Press Ltd.
The CXC chemokines, CXCL4, -9, -10, -11, CXCL4L1, and the CC chemokine CCL21, activate CXC chemokine receptor 3 (CXCR3), a cell-surface G protein-coupled receptor expressed mainly by Th1 cells, cytotoxic T (Tc) cells and NK cells that have a key role
Autor:
Demis Tserpelis, Rita D. Brandão, Encarna B. Gomez Garcia, Marinus J. Blok, Kees E. P. van Roozendaal
Publikováno v:
Breast Cancer Research and Treatment, 129(3), 971-982. Springer, Cham
A subset of the unclassified variants (UVs) identified during genetic screening of BRCA1/2 genes may affect splicing. We assessed at RNA level the effect of four BRCA1 and ten BRCA2 UVs with a putative splice effect, as predicted in silico. The varia