E-LIB Suche - Ergebnisse für: del Valle, Jesús

1

Tumor analysis of MMR genes in Lynch‐like syndrome: Challen..:

Rofes, Paula ; Dueñas, Núria ; del Valle, Jesús...
Cancer Medicine. 13 (2024) 7 - p. , 2024

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

2

Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic ..:

Munté, Elisabet ; Feliubadaló, Lídia ; Del Valle, Jesús...
The Journal of Molecular Diagnostics. , 2024

Link: https://doi.org/10.1016/..

3

The BRCA2 R2645G variant increases DNA binding and induces ..:

Alvaro-Aranda, Lucia ; Petitalot, Ambre ; Djeghmoum, Yasmina...
Nucleic Acids Research. , 2023

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

4

Variants of uncertain significance (VUS) in cancer predispo..:

Lucci-Cordisco, Emanuela ; Amenta, Simona ; Panfili, Arianna...
European Journal of Medical Genetics. 65 (2022) 1 - p. 104400 , 2022

Link: https://doi.org/10.1016/..

5

Mosaicism in PTEN—new case and comment on the literature:

Rofes, Paula ; Teulé, Álex ; Feliubadaló, Lídia...
European Journal of Human Genetics. 30 (2022) 6 - p. 641-644 , 2022

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

6

BARD1 Pathogenic Variants Are Associated with Triple-Negati..:

Rofes, Paula ; Del Valle, Jesús ; Torres-Esquius, Sara...
Genes. 12 (2021) 2 - p. 150 , 2021

Link: https://doi.org/10.3390/..

7

Response to letter entitled: Re: ERCC3 a new ovarian cancer..:

Stradella, Agostina ; del Valle, Jesús ; Brunet, Joan.
European Journal of Cancer. 150 (2021) - p. 281-282 , 2021

Link: https://doi.org/10.1016/..

8

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/..

9

CNVfilteR: an R/Bioconductor package to identify false posi..:

Moreno-Cabrera, José Marcos ; del Valle, Jesús ; Castellanos, Elisabeth...
Bioinformatics. 37 (2021) 22 - p. 4227-4229 , 2021

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

10

The Challenge of Diagnosing Constitutional Mismatch Repair ..:

Carrato, Cristina ; Sanz, Carolina ; Muñoz-Mármol, Ana María...
International Journal of Molecular Sciences. 22 (2021) 9 - p. 4629 , 2021

Link: https://doi.org/10.3390/..

11

Solving the enigma of POLD1 p.V295M as a potential cause of..:

Mur, Pilar ; Magraner-Pardo, Lorena ; García-Mulero, Sandra...
European Journal of Human Genetics. 30 (2021) 4 - p. 485-489 , 2021

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

12

Genetic Screening for TLR7 Variants in Young and Previously..:

Solanich, Xavier ; Vargas-Parra, Gardenia ; van der Made, Caspar I....
Frontiers in Immunology. 12 (2021) - p. , 2021

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

13

The Spectrum of FANCM Protein Truncating Variants in Europe..:

Figlioli, Gisella ; Kvist, Anders ; Tham, Emma...
Cancers. 12 (2020) 2 - p. 292 , 2020

Link: https://doi.org/10.3390/..

14

ERCC3, a new ovarian cancer susceptibility gene?:

Stradella, Agostina ; del Valle, Jesús ; Rofes, Paula...
European Journal of Cancer. 141 (2020) - p. 1-8 , 2020

Link: https://doi.org/10.1016/..

15

Characteristics of Adrenocortical Carcinoma Associated With..:

Domènech, Marta ; Grau, Elia ; Solanes, Ares...
The Journal of Clinical Endocrinology & Metabolism. 106 (2020) 2 - p. 318-325 , 2020

Link: https://doi.org/10.1210/..