MARIA DEL MAR
INFANTE SANZ
PROFESOR AYUDANTE DOCTOR
Hospital Universitario La Fe
Valencia, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario La Fe (8)
2015
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BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study
Familial Cancer, Vol. 14, Núm. 4, pp. 505-513
2013
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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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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
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
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