MARIA DEL MAR
INFANTE SANZ
PROFESOR AYUDANTE DOCTOR
Eladio
Velasco
Publicaciones en las que colabora con Eladio Velasco (22)
2024
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Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants
Clinical chemistry, Vol. 70, Núm. 1, pp. 319-338
2021
2018
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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, Vol. 39, Núm. 9, pp. 1155-1160
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Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants
Breast Cancer Research and Treatment, Vol. 171, Núm. 1, pp. 53-63
2013
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Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases
PLoS ONE, Vol. 8, Núm. 7
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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
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Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome
International Journal of Colorectal Disease, Vol. 28, Núm. 9, pp. 1195-1201
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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
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Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes
Breast Cancer Research, Vol. 14, Núm. 3
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Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer
Breast Cancer Research and Treatment, Vol. 132, Núm. 1, pp. 307-315
2011
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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
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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
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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
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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
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Two founder BRCA2 mutations predispose to breast cancer in young women
Breast Cancer Research and Treatment, Vol. 122, Núm. 2, pp. 567-571
2009
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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
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Heteroduplex analysis by capillary array electrophoresis for rapid mutation detection in large multiexon genes
Nature Protocols, Vol. 2, Núm. 1, pp. 237-246
2006
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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
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Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis
Electrophoresis, Vol. 26, Núm. 13, pp. 2539-2552
2004
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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