Publications by authors named "F Mercadillo"

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Functional analysis of PTEN variants of unknown significance from PHTS patients unveils complex patterns of PTEN biological activity in disease.
Leire Torices, Janire Mingo, Isabel Rodríguez-Escudero, Teresa Fernández-Acero, Sandra Luna, Fátima Mercadillo

Eur J Hum Genet· May 2023

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Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility.
Carolina Villarroya-Beltri, Ana Osorio, Raúl Torres-Ruiz, David Gómez-Sánchez, Marianna Trakala, Fátima Mercadillo

Sci Adv· November 2022

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Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants.
B Benito-Sánchez, A Barroso, V Fernández, F Mercadillo, R Núñez-Torres

Sci Rep· May 2022

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Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.
Laura Pena-Couso, María Ercibengoa, Fátima Mercadillo, David Gómez-Sánchez, Lucía Inglada-Pérez

Orphanet J Rare Dis· February 2022

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Germline G212E Missense Variant: Combining Clinical, In Vitro and In Vivo Strategies to Unravel Disease Burden.
Joana Figueiredo, Fátima Mercadillo, Soraia Melo, Alicia Barroso, Margarida Gonçalves

Cancers (Basel)· August 2021

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