Maria Del Mar
Infante Sanz
![Foto de Maria Del Mar](/img/nophoto.png)
![Foto de Universidad de Valladolid](/img/noimage_org.png)
Universidad de Valladolid
Valladolid, EspañaPublicaciones en colaboración con investigadores/as de Universidad de Valladolid (14)
2023
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Multigene germline testing usefulness instead of BRCA1/2 single screening in triple negative breast cancer cases
Pathology Research and Practice, Vol. 247
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Multiomics insights on the onset, progression, and metastatic evolution of breast cancer
Frontiers in Oncology, Vol. 13
2020
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BRCA Tumor Analysis as Molecular Screening for Germline Testing
Annals of Clinical Oncology, pp. 1-7
2014
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DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
PLoS Genetics, Vol. 10, Núm. 4
2013
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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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Incidence of -93 MLH1 promoter polymorphism in familial and sporadic colorectal cancer
Colorectal Disease, Vol. 15, Núm. 3
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
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
2003
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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