Browsing by Author "Infante Sanz, María Del Mar"

Now showing items 1-20 of 22

A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection

Velázquez Pérez, Carolina; Lastra, Enrique; Avila Cobos, Francisco; Abella, Luis; de la Cruz, Virginia; Hernando, Blanca Ascensión; Hernández Sanz, Lara; Martínez Martín, Noemí; Infante Sanz, María Del Mar ; Duran Dominguez, María Mercedes (2020)
A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer

Velázquez Pérez, Carolina; Esteban Cardeñosa, Eva; Lastra, Enrique; Abella, Luis E.; de la Cruz, Virginia; Domínguez Lobatón, María Carmen ; Duran Dominguez, María Mercedes ; Infante Sanz, María Del Mar (2019)
About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

Gutiérrez-Enríquez, Sara; Esteban Cardeñosa, Eva; Díaz Rubio, Eduardo; Hoya, Miguel de la; Gutiérrez Enríquez, Sara; Bonache, Sandra; Ruíz de Garibay, Gorka; Osorio, Ana; Santamariña, Marta; Ramón y Cajal, Teresa; Esteban Cardeñosa, Eva; Tenés, Anna; Yanowsky, Kira; Barroso, Alicia; Montalban, Gemma; Blanco, Eva; Cornet, Mònica; Gadea, Neus; Infante Sanz, María Del Mar ; Caldés, Trinidad; Díaz Rubio, Eduardo; Balmaña, Judith; Lasa, Adriana; Vega, Ana; Benítez, Javier; Hoya, Miguel de la; Diez, Orland (2014)
Application of liquid biopsies in metastatic gastrointestinal cancer to identify candidate therapeutic targets

Perez, Laura; Saiz López, P.; Sánchez Escribano, R.; Rodrigo, A.; García González, M.; Duran Dominguez, María Mercedes ; Infante Sanz, María Del Mar ; Terradez, A.; Faull, I.; Lastra, Enrique (2018)
BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study

de Juan, Inmaculada; Palanca, Sarai; Domenech, Asunción; Feliubadaló, Lidia; Segura, Ángel; Osorio, Ana; Chirivella, Isabel; de la Hoya, Miguel; Sánchez, Ana Beatriz; Infante Sanz, María Del Mar ; Tena, Isabel; Diez, Orland; Garcia-Casado, Zaida; Vega, Ana; Teulé, Àlex; Barroso, Alicia; Pérez, Pedro; Duran Dominguez, María Mercedes ; Carrasco, Estela; Juan-Fita, Mª José; Murria, Rosa; Llop, Marta; Barragan, Eva; Izquierdo, Ángel; Benítez, Javier; Caldés, Trinidad; Salas, Dolores; Bolufer, Pascual (2015)
Cáncer hereditario y microbiota. Evaluación de una intervención nutricional

Gallego Rodríguez, Victoria (2024)
Caracterización molecular de cánceres de mama triple negativo mediante secuenciación masiva (NGS). Tipificación de variantes de significado incierto

Arranz Ledo, Mónica (2021)
Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing:BRCA2c.7976+5G > T as a case study

Montalban, Gemma; Fraile-Bethencourt, Eugenia; López-Perolio, Irene; Pérez-Segura, Pedro; Infante Sanz, María Del Mar ; Duran Dominguez, María Mercedes ; Alonso-Cerezo, María Concepción; López-Fernández, Adrià; Diez, Orland; de la Hoya, Miguel; Velasco, Eladio A.; Gutiérrez-Enríquez, Sara (2018)
Detección, análisis y clasificación de variantes genéticas en el diagnóstico molecular del cáncer hereditario

Velázquez Pérez, Carolina (2019)
DNA glycosylases Involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

Osorio, Ana; Infante Sanz, María Del Mar (2014)
Estudio de la asociación genotipo-fenotipo en familias con historia de cáncer de próstata

Capellán Sanjuán, Alonso (2023)
Evaluating the Effect of Unclassified Variants Identified in MMR Genes Using Phenotypic Features, Bioinformatics Prediction, and RNA Assays

Pérez-Cabornero, Lucia; Infante Sanz, María Del Mar ; Velasco, Eladio; Lastra, Enrique; Miner, Cristina; Duran Dominguez, María Mercedes (2013-05)
GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X

Seguí, Nuria; Pineda, Marta; Navarro, Matilde; Lázaro, Conxi; Brunet, Joan; Infante Sanz, María Del Mar ; Duran Dominguez, María Mercedes ; Soto, José Luis; Blanco, Ignacio; Capellá, Gabriel; Valle, Laura (2014)
Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia

Tuazon, Anna Marie De Asis; Lott, Paul; Bohórquez, Mabel; Benavides, Jennyfer; Ramirez, Carolina; Criollo, Angel; Estrada-Florez, Ana; Mateus, Gilbert; Velez, Alejandro; Carmona, Jenny; Olaya, Justo; Garcia, Elisha; Polanco-Echeverry, Guadalupe; Stultz, Jacob; Alvarez, Carolina; Tapia, Teresa; Ashton-Prolla, Patricia; Alemar, Barbara; Netto, Cristina Brinckmann Oliveira; Carraro, Dirce Maria; Vargas, Fernando Regla; da Silva, Gustavo Stumpf; Nascimento, Ivana Lúcia Oliveira; de Souza, Kelly Rose Lobo; Achatz, Maria Isabel; Moreira, Miguel Angelo Martins; Torrales, Maria Betânia; Pimenta, Maristela; Machado-Lopes, Taisa Manuela Bonfim; Vega, Ana; Lazaro, Conxi; Tornero, Eva; Martinez-Bouzas, Cristina; Infante Sanz, María Del Mar ; De La Hoya, Miguel; Diez, Orland; Browning, Brian L.; Bolaños, Fernando; Murillo, Raúl; Sánchez, Yesid; Sanabria, Carolina; Serrano, Martha Lucia; Suarez, John Jairo; Rannala, Bruce; Teixeira, Manuel R.; Carvallo, Pilar; Echeverry, Magdalena; Carvajal-Carmona, Luis G. (2020)
Increased co-occurrence of pathogenic variants in hereditary breast and ovarian cancer and Lynch syndromes: A consequence of multigene panel genetic testing?

Infante Sanz, María Del Mar ; Arranz Ledo, Mónica ; Lastra, Enrique; Abella, Luis Enrique; Ferreira, Raquel; Orozco, Marta; Hernández, Lara; Martínez Martín, Noemí; Duran Dominguez, María Mercedes (2022)
Multigene germline testing usefulness instead of BRCA1/2 single screening in triple negative breast cancer cases

Arranz Ledo, Mónica ; Lastra, Enrique; Abella, Luis Enrique; Ferreira, Raquel; Orozco, Marta; Hernández, Lara; Martínez Martín, Noemí; Infante Sanz, María Del Mar ; Duran Dominguez, María Mercedes (2023)
Multiomics insights on the onset, progression, and metastatic evolution of breast cancer

Álvarez Frutos, Lucia ; Barriuso Palacios, Daniel ; Duran Dominguez, María Mercedes ; Infante Sanz, María Del Mar ; Kroemer, Guido; Palacios Ramírez, Roberto ; Senovilla González, Laura (2023-12-19)
Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations

Infante Sanz, María Del Mar ; Arranz Ledo, Mónica ; Lastra, Enrique; Olaverri, Amaya; Ferreira, Raquel; Orozco, Marta; Hernández Sanz, Lara; Martínez Martín, Noemí; Duran Dominguez, María Mercedes (2024)
Revisión del estado actual de la nutrición en fenilcetonuria y propuesta de intervención nutricional

Rodríguez González, Miguel (2024)
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants

Sanoguera Miralles, Lara; Valenzuela Palomo, Alberto; Bueno Martínez, Elena ; Esteban Sánchez, Ada; Lorca, Víctor; Llinares Burguet, Inés; García Álvarez, Alicia; Pérez Segura, Pedro; Infante Sanz, María Del Mar ; Easton, Douglas F; Devilee, Peter; Vreeswijk, Maaike P G; de la Hoya, Miguel; Velasco Sampedro, Eladio Andrés (2024)

Browsing by Author "Infante Sanz, María Del Mar" Google Citations

A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection ﻿

A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer ﻿

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants ﻿

Application of liquid biopsies in metastatic gastrointestinal cancer to identify candidate therapeutic targets ﻿

BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study ﻿

Cáncer hereditario y microbiota. Evaluación de una intervención nutricional ﻿

Caracterización molecular de cánceres de mama triple negativo mediante secuenciación masiva (NGS). Tipificación de variantes de significado incierto ﻿

Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing:BRCA2c.7976+5G > T as a case study ﻿

Detección, análisis y clasificación de variantes genéticas en el diagnóstico molecular del cáncer hereditario ﻿

DNA glycosylases Involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers ﻿

Estudio de la asociación genotipo-fenotipo en familias con historia de cáncer de próstata ﻿

Evaluating the Effect of Unclassified Variants Identified in MMR Genes Using Phenotypic Features, Bioinformatics Prediction, and RNA Assays ﻿

GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X ﻿

Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia ﻿

Increased co-occurrence of pathogenic variants in hereditary breast and ovarian cancer and Lynch syndromes: A consequence of multigene panel genetic testing? ﻿

Multigene germline testing usefulness instead of BRCA1/2 single screening in triple negative breast cancer cases ﻿

Multiomics insights on the onset, progression, and metastatic evolution of breast cancer ﻿

Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations ﻿

Revisión del estado actual de la nutrición en fenilcetonuria y propuesta de intervención nutricional ﻿

Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants ﻿

A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection

A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

Application of liquid biopsies in metastatic gastrointestinal cancer to identify candidate therapeutic targets

BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study

Cáncer hereditario y microbiota. Evaluación de una intervención nutricional

Caracterización molecular de cánceres de mama triple negativo mediante secuenciación masiva (NGS). Tipificación de variantes de significado incierto

Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing:BRCA2c.7976+5G > T as a case study

Detección, análisis y clasificación de variantes genéticas en el diagnóstico molecular del cáncer hereditario

DNA glycosylases Involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

Estudio de la asociación genotipo-fenotipo en familias con historia de cáncer de próstata

Evaluating the Effect of Unclassified Variants Identified in MMR Genes Using Phenotypic Features, Bioinformatics Prediction, and RNA Assays

GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X

Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia

Increased co-occurrence of pathogenic variants in hereditary breast and ovarian cancer and Lynch syndromes: A consequence of multigene panel genetic testing?

Multigene germline testing usefulness instead of BRCA1/2 single screening in triple negative breast cancer cases

Multiomics insights on the onset, progression, and metastatic evolution of breast cancer

Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations

Revisión del estado actual de la nutrición en fenilcetonuria y propuesta de intervención nutricional

Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants