Rogelio
González Sarmiento
Catedrático de Universidad
Hospital de la Santa Creu i Sant Pau
Barcelona, EspañaPublicaciones en colaboración con investigadores/as de Hospital de la Santa Creu i Sant Pau (10)
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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A 2-year-old girlwith skin fragility
JAMA Dermatology
2013
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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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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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Prevalence of autosomal recessive congenital ichthyosis: A population-based study using the capture-recapture method in Spain
Journal of the American Academy of Dermatology, Vol. 67, Núm. 2, pp. 240-244
2006
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A haplotype containing the p53 polymorphisms Ins16bp and Arg72Pro modifies cancer risk in BRCA2 mutation carriers
Human Mutation, Vol. 27, Núm. 3, pp. 242-248
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Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer
Clinical Chemistry, Vol. 52, Núm. 8, pp. 1480-1485
2004
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The variant E233G of the rad51d gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations
International Journal of Cancer, Vol. 110, Núm. 6, pp. 845-849
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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Clinical value of p53, c-erbB-2, CEA and CA125 regarding relapse, metastasis and death in resectable non-small cell lung cancer
International Journal of Cancer, Vol. 107, Núm. 5, pp. 781-790