Mar Infante

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 6

Top Venues

Cancers

Molecular carcinogenesis

Clinical chemistry

Human mutation

Instituto de Biología y Genética Molecular

Universidad de Valladolid (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Instituto de Biología y Genética Molecular Aug 01 2008

Spain

Researcher :: Hereditary Cancer Genetics Group

Education History

Universidad de Valladolid

Spain

PHD :: Departamento de Bioquímica y Biología Molecular y Fisiología

Publications

Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, Elena Bueno-Martínez, Ada Esteban-Sánchez, Víctor Lorca, Inés Llinares-Burguet, Alicia García-Álvarez, Pedro Pérez-Segura, Mar Infante, Douglas F Easton, Peter Devilee, Maaike P G Vreeswijk, Miguel de la Hoya, Eladio A Velasco
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants. Clinical chemistry (2023)
Mar Infante, Mónica Arranz-Ledo, Enrique Lastra, Luis Enrique Abella, Raquel Ferreira, Marta Orozco, Lara Hernández, Noemí Martínez, Mercedes Durán
Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing? International journal of molecular sciences 23 (19) (2022)
Elena Bueno-Martínez, Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, Víctor Lorca, Alicia Gómez-Sanz, Sara Carvalho, Jamie Allen, Mar Infante, Pedro Pérez-Segura, Conxi Lázaro, Douglas F Easton, Peter Devilee, Maaike P G Vreeswijk, Miguel de la Hoya, Eladio A Velasco
RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants. Cancers 13 (11) (2021)
Carolina Velázquez, De Leeneer K, Eva M Esteban-Cardeñosa, Francisco Avila Cobos, Enrique Lastra, Luis E Abella, Virginia de la Cruz, Mercedes Cueto, Kathleen B Claes, Mercedes Durán, Mar Infante
Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer. Cancers 12 (8) (2020)
Carolina Velázquez, Eva M Esteban-Cardeñosa, Enrique Lastra, Luis E Abella, Virginia de la Cruz, Carmen D Lobatón, Mercedes Durán, Mar Infante
Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer. Molecular carcinogenesis 58 (1) (2018)
Gemma Montalban, Eugenia Fraile-Bethencourt, Irene López-Perolio, Pedro Pérez-Segura, Mar Infante, Mercedes Durán, María Concepción Alonso-Cerezo, Adrià López-Fernández, Orland Diez, Miguel de la Hoya, Eladio A Velasco, Sara Gutiérrez-Enríquez
Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study. Human mutation 39 (9) (2018)

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Publication Activity (10 Years)

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Mar Infante