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1

SpadaHC: a database to improve the classification of varian..:

Moreno-Cabrera, José M ; Feliubadaló, Lidia ; Pineda, Marta...
Database. 2024 (2024) - p. , 2024

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

2

Genetic and clinical characterization of a novel FH founder..:

Sánchez-Heras, Ana Beatriz ; Dámaso, Estela ; Castillejo, Adela...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

3

MLH1-methylated endometrial cancer under 60 years of age as..:

Hitchins, Megan P. ; Alvarez, Rocio ; Zhou, Lisa...
Gynecologic Oncology. 171 (2023) - p. 129-140 , 2023

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

4

Splicing analyses for variants in MMR genes: best practice ..:

Morak, Monika ; Pineda, Marta ; Martins, Alexandra...
European Journal of Human Genetics. 30 (2022) 9 - p. 1051-1059 , 2022

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

5

Co‐occurrence of germline pathogenic variants for different..:

Ferrer‐Avargues, Rosario ; Castillejo, María Isabel ; Dámaso, Estela...
Cancer Communications. 41 (2021) 3 - p. 218-228 , 2021

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

6

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/..

7

Comprehensive Constitutional Genetic and Epigenetic Charact..:

Dámaso, Estela ; González-Acosta, Maribel ; Vargas-Parra, Gardenia...
Cancers. 12 (2020) 7 - p. 1799 , 2020

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

8

Highly sensitive MLH1 methylation analysis in blood identif..:

Dámaso, Estela ; Canet-Hermida, Júlia ; Vargas-Parra, Gardenia...
Clinical Epigenetics. 11 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

9

Primary constitutional MLH1 epimutations: a focal epigeneti..:

Dámaso, Estela ; Castillejo, Adela ; Arias, María del Mar...
British Journal of Cancer. 119 (2018) 8 - p. 978-987 , 2018

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

10

Elucidating the molecular basis of MSH2‐deficient tumors by..:

Vargas‐Parra, Gardenia M. ; González‐Acosta, Maribel ; Thompson, Bryony A....
International Journal of Cancer. 141 (2017) 7 - p. 1365-1380 , 2017

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

11

MLH1-methylated endometrial cancer under 60 years of age as..:

Hitchins, Megan P ; Álvarez, Rocío ; Zhou, Lisa...
Reproducció del document publicat a: https://doi.org/10.1016/j.ygyno.2023.02.017. , 2023

Link: http://hdl.handle.net/24..

12

Co‐occurrence of germline pathogenic variants for different..:

Ferrer‐Avargues, Rosario ; Castillejo, María Isabel ; Dámaso, Estela...
https://doi.org/10.1002/cac2.12134. , 2021

Link: http://hdl.handle.net/10..

13

The challenge of diagnosing constitutional mismatch repair ..:

Carrato, Cristina ; Sanz, Carolina ; Muñoz-Mármol, Ana Maria...
Agencia Estatal de Investigación PID2019-111254RB-I00. , 2021

Link: https://ddd.uab.cat/reco..

14

The Challenge of Diagnosing Constitutional Mismatch Repair ..:

Carrato, Cristina ; Sanz, Carolina ; Muñoz Mármol, Ana María...
Reproducció del document publicat a: https://doi.org/10.3390/ijms22094629. , 2021

Link: http://hdl.handle.net/24..

15

The Challenge of Diagnosing Constitutional Mismatch Repair ..:

Carrato, Cristina ; Sanz, Carolina ; Muñoz-Mármol, Ana María...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8124255/. , 2021

Link: http://www.ncbi.nlm.nih...

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