Publicaciones en las que colabora con CRISTINA MINER PINO (18)

2013

  1. Evaluating the effect of unclassified variants identified in MMR genes using phenotypic features, bioinformatics prediction, and RNA assays

    Journal of Molecular Diagnostics, Vol. 15, Núm. 3, pp. 380-390

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

    International Journal of Colorectal Disease, Vol. 28, Núm. 9, pp. 1195-1201

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

    Colorectal Disease, Vol. 15, Núm. 3

  4. The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins

    Carcinogenesis, Vol. 34, Núm. 11, pp. 2505-2511

2012

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

    Breast Cancer Research, Vol. 14, Núm. 3

2011

  1. Characterization of new founder alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotype

    Cancer Prevention Research, Vol. 4, Núm. 10, pp. 1546-1555

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

    Cancer Prevention Research, Vol. 4, Núm. 10, pp. 1556-1562

2010

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

    Clinical Cancer Research, Vol. 16, Núm. 6, pp. 1957-1967

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

    Clinical Genetics, Vol. 77, Núm. 1, pp. 60-69

  3. Two founder BRCA2 mutations predispose to breast cancer in young women

    Breast Cancer Research and Treatment, Vol. 122, Núm. 2, pp. 567-571

2009

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

    European Journal of Cancer, Vol. 45, Núm. 8, pp. 1485-1493

2007

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

    Nature Protocols, Vol. 2, Núm. 1, pp. 237-246

2006

  1. High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain)

    Journal of Human Genetics, Vol. 51, Núm. 7, pp. 611-617

2005

  1. Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis

    Electrophoresis, Vol. 26, Núm. 13, pp. 2539-2552

2004

  1. High-Throughput Mutation Detection Method to Scan BRCA1 and BRCA2 Based on Heteroduplex Analysis by Capillary Array Electrophoresis

    Clinical Chemistry, Vol. 50, Núm. 2, pp. 313-320

2003

  1. Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects

    Human Mutation, Vol. 22, Núm. 4, pp. 301-312

  2. Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: identification of four novel truncating mutations.

    Human mutation, Vol. 21, Núm. 4, pp. 448

2002

  1. Estudio molecular de los genes BRCA1 y BRCA2 en 153 familias con cáncer de mama de Castilla y León (España): Identificación de nueve variantes de efecto desconocido no descritas

    Medicina Clinica, Vol. 119, Núm. 12, pp. 441-445