CRISTINA
MINER PINO
Forscherin in der Zeit 1984-2013
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Complejo Asistencial Universitario de Burgos
Burgos, EspañaPublikationen in Zusammenarbeit mit Forschern von Complejo Asistencial Universitario de Burgos (11)
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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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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Incidence of -93 MLH1 promoter polymorphism in familial and sporadic colorectal cancer
Colorectal Disease, Vol. 15, Núm. 3
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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
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
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