Publications by authors named "Fatima 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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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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Investigation on the Role of PALB2 Gene in CDH1-Negative Patients With Hereditary Diffuse Gastric Cancer.
Marta Carreño, Laura Pena-Couso, Fátima Mercadillo, José Perea, Miguel Urioste

Clin Transl Gastroenterol· December 2020

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Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer.
Laura Pena-Couso, José Perea, Soraia Melo, Fátima Mercadillo, Joana Figueiredo

Eur J Hum Genet· September 2018

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Association study of 69 genes in the ret pathway identifies low-penetrance loci in sporadic medullary thyroid carcinoma.
Sergio Ruiz-Llorente, Cristina Montero-Conde, Roger L Milne, Christian M Moya, Arancha Cebrián, Fátima Mercadillo

Cancer Res· October 2007

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Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients.
Alberto Cascón, Beatriz Escobar, Cristina Montero-Conde, Cristina Rodríguez-Antona, Sergio Ruiz-Llorente, Fátima Mercadillo

Hum Mutat· June 2007

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Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot?
Alberto Cascón, Cristina Montero-Conde, Sergio Ruiz-Llorente, Fátima Mercadillo, Rocío Letón

Genes Chromosomes Cancer· March 2006

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