Bioquímica y Biología Molecular y Fisiología
Departamento
Hospital de la Santa Creu i Sant Pau
Barcelona, EspañaPublicaciones en colaboración con investigadores/as de Hospital de la Santa Creu i Sant Pau (18)
2023
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Resolvin D2 Attenuates Cardiovascular Damage in Angiotensin II-Induced Hypertension
Hypertension, Vol. 80, Núm. 1, pp. 84-96
2020
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Hereditary leiomyomatosis and renal cell cancer syndrome in spain: Clinical and genetic characterization
Cancers, Vol. 12, Núm. 11, pp. 1-16
2018
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Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome
British Journal of Dermatology, Vol. 178, Núm. 1, pp. 198-206
2015
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Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer
JAMA - Journal of the American Medical Association, Vol. 313, Núm. 13, pp. 1347-1361
2014
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About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants
International Journal of Cancer, Vol. 134, Núm. 9, pp. 2088-2097
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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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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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Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 (FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles
Human Mutation, Vol. 34, Núm. 12, pp. 1615-1618
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Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
PLoS Genetics, Vol. 9, 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
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
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
2010
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Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: Implications for risk prediction
Cancer Research, Vol. 70, Núm. 23, pp. 9742-9754
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Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers
Breast Cancer Research and Treatment, Vol. 119, Núm. 1, pp. 221-232
2009
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The TP53 Arg72Pro and MDM2 309GT polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
British Journal of Cancer, Vol. 101, Núm. 8, pp. 1456-1460
2008
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The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain
Clinical Cancer Research, Vol. 14, Núm. 9, pp. 2861-2869
2003
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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
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Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations
European Journal of Human Genetics