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Archives of Neurology|August 10, 2005
Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish populationJuan J Vilchez, Pia Gallano, Eduard Gallardo, et al.
Breast Cancer Research and Treatment|December 2, 2009
Two founder BRCA2 mutations predispose to breast cancer in young womenMar Infante, Mercedes Durán, Adriana Lasa, et al.
European Journal of Human Genetics : EJHG|August 31, 2017
The wide spectrum of POT1 gene variants correlates with multiple cancer typesOriol Calvete, Pablo Garcia-Pavia, Fernando Domínguez, et al.
Frontiers in Genetics|November 4, 2022
Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafnessLaura Alías, Miguel López de Heredia, Sabina Luna, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|February 2, 2020
Gefitinib and Afatinib Show Potential Efficacy for Fanconi Anemia-Related Head and Neck CancerHelena Montanuy, Águeda Martínez-Barriocanal, José Antonio Casado, et al.
Pathologica|July 9, 2024
Non-C19MC-altered embryonal tumor with multilayered rosettes in a young woman with DICER1 syndrome: case report and review of the literatureMaría Concepción Campos Mármol, María Aguado, Teresa Ramón Y Cajal, et al.
NPJ Breast Cancer|September 10, 2021
Clinical consequences of BRCA2 hypomorphismLaia Castells-Roca, Sara Gutiérrez-Enríquez, Sandra Bonache, et al.
Pharmaceuticals (Basel, Switzerland)|May 4, 2026
Analytical and Clinical Validation of Action PharmaKitDx: A Comprehensive NGS Panel for the Identification of Pharmacogenetic Variants in Diverse PopulationsLuis Ramudo-Cela, Marta Izquierdo-García, María Dolores-Sequedo, et al.
Human Mutation|September 13, 2013
Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility allelesAna Osorio, Massimo Bogliolo, Victoria Fernández, et al.
Carcinogenesis|August 10, 2013
The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple originsMar Infante, Mercedes Durán, Alberto Acedo, et al.
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