Lista de obras -

A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.

artículo científico publicado en 2010

A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR.

artículo científico publicado en 2009

Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene

artículo científico publicado en 2016

BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin

scientific article published on 02 November 2009

Characterization of New Founder Alu-Mediated Rearrangements in MSH2 Gene Associated with a Lynch Syndrome Phenotype

article

Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes

artículo científico publicado en 2012

Erratum to: Frequency of germline DNA genetic findings in an unselected prospective cohort of triple-negative breast cancer patients participating in a platinum-based neoadjuvant chemotherapy trial

artículo científico publicado en 2017

Frequency of germline DNA genetic findings in an unselected prospective cohort of triple-negative breast cancer patients participating in a platinum-based neoadjuvant chemotherapy trial.

artículo científico publicado en 2016

Frequency of rearrangements in Lynch syndrome cases associated with MSH2: characterization of a new deletion involving both EPCAM and the 5' part of MSH2.

artículo científico publicado en 2011

Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome.

artículo científico publicado en 2013

Heteroduplex analysis by capillary array electrophoresis for rapid mutation detection in large multiexon genes.

artículo científico

Incidence of -93 MLH1 promoter polymorphism in familial and sporadic colorectal cancer.

artículo científico publicado en 2013

Lynch syndrome diagnostics: decision-making process for germ-line testing ⬇️

artículo científico publicado el 1 de abril de 2012

MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families