E-LIB Suche - Ergebnisse für: Menéndez, Mireia

1

Clinical, splicing, and functional analysis to classifyBRCA..:

Thomassen, Mads ; Mesman, Romy L. S. ; Hansen, Thomas V. O....
Human Mutation. 43 (2022) 12 - p. 1921-1944 , 2022

Link: https://doi.org/10.1002/..

2

RNA assay identifies a previous misclassification of BARD1 ..:

Rofes, Paula ; Pineda, Marta ; Feliubadaló, Lídia...
Scientific Reports. 11 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

3

A Case Report and a Descriptive Retrospective Study of Case..:

Teira, Andrea ; Menéndez, Mireia ; Salmón, Zaida.
Case Reports in Clinical Medicine. 9 (2020) 5 - p. 122-130 , 2020

Link: https://doi.org/10.4236/..

4

Computational Tools for Splicing Defect Prediction in Breas..:

Moles-Fernández, Alejandro ; Duran-Lozano, Laura ; Montalban, Gemma...
Frontiers in Genetics. 9 (2018) - p. , 2018

Link: https://doi.org/10.3389/..

5

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed ..:

Feliubadaló, Lídia ; Tonda, Raúl ; Gausachs, Mireia...
Scientific Reports. 7 (2017) 1 - p. , 2017

Link: https://doi.org/10.1038/..

6

Investigating the effect of 28 BRCA1 and BRCA2 mutations on..:

Quiles, Francisco ; Menéndez, Mireia ; Tornero, Eva...
Breast Cancer Research and Treatment. 155 (2016) 2 - p. 253-260 , 2016

Link: https://doi.org/10.1007/..

7

Comprehensive annotation of splice junctions supports perva..:

Colombo, Mara ; Blok, Marinus J. ; Whiley, Phillip...
Human Molecular Genetics. 23 (2014) 14 - p. 3666-3680 , 2014

Link: https://doi.org/10.1093/..

8

Assessing the RNA effect of 26 DNA variants in the BRCA1 an..:

Menéndez, Mireia ; Castellsagué, Joan ; Mirete, Marc...
Breast Cancer Research and Treatment. 132 (2011) 3 - p. 979-992 , 2011

Link: https://doi.org/10.1007/..

9

Identification of a new complex rearrangement affecting exo..:

del Valle, Jesús ; Campos, Olga ; Velasco, Angela...
Breast Cancer Research and Treatment. 130 (2011) 1 - p. 341-344 , 2011

Link: https://doi.org/10.1007/..

10

Characterization of BRCA1 and BRCA2 splicing variants: a co..:

Thomassen, Mads ; Blanco, Ana ; Montagna, Marco...
Breast Cancer Research and Treatment. 132 (2011) 3 - p. 1009-1023 , 2011

Link: https://doi.org/10.1007/..

11

Identification and comprehensive characterization of large ..:

del Valle, Jesús ; Feliubadaló, Lídia ; Nadal, Marga...
Breast Cancer Research and Treatment. 122 (2009) 3 - p. 733-743 , 2009

Link: https://doi.org/10.1007/..

12

Functional Characterization of the Novel APC N1026S Variant..:

Menéndez, Mireia ; González, Sara ; Obrador–Hevia, Antònia...
Gastroenterology. 134 (2008) 1 - p. 56-64 , 2008

Link: https://doi.org/10.1053/..

13

APC Inactivation Associates With Abnormal Mitosis Completio..:

Abal, Miguel ; Obrador–Hevia, Antonia ; Janssen, Klaus–Peter...
Gastroenterology. 132 (2007) 7 - p. 2448-2458 , 2007

Link: https://doi.org/10.1053/..

14

Colorectal cancer risk and the APC D1822V variant:

Menéndez, Mireia ; González, Sara ; Blanco, Ignacio...
International Journal of Cancer. 112 (2004) 1 - p. 161-163 , 2004

Link: https://doi.org/10.1002/..

15

Clinical, splicing and functional analysis to classify BRCA..:

Thomassen, Mads ; Mesman, Romy L S ; Hansen, Thomas V O...
https://portal.findresearcher.sdu.dk/da/publications/2a62c493-194c-4265-b9ea-cb077fbe3dbf. , 2022

Link: https://portal.findresea..