CRISTINA
MINER PINO
Researcher in the period 1984-2013
![Foto de Eladio](/img/nophoto.png)
Eladio
Velasco
Publications by the researcher in collaboration with Eladio Velasco (18)
2013
-
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
-
Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome
International Journal of Colorectal Disease, Vol. 28, Núm. 9, pp. 1195-1201
-
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
-
Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes
Breast Cancer Research, Vol. 14, Núm. 3
2011
-
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
-
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
-
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
-
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
-
Two founder BRCA2 mutations predispose to breast cancer in young women
Breast Cancer Research and Treatment, Vol. 122, Núm. 2, pp. 567-571
2009
-
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
-
Heteroduplex analysis by capillary array electrophoresis for rapid mutation detection in large multiexon genes
Nature Protocols, Vol. 2, Núm. 1, pp. 237-246
2006
-
Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer
Clinical Chemistry, Vol. 52, Núm. 8, pp. 1480-1485
-
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
-
Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis
Electrophoresis, Vol. 26, Núm. 13, pp. 2539-2552
2004
-
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
-
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
-
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
-
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