about
DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriersThe rs10993994 risk allele for prostate cancer results in clinically relevant changes in microseminoprotein-beta expression in tissue and urineRefining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variantsGenome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer riskAssociation between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer.POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillanceNew insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposisLittle evidence for association between the TGFBR1*6A variant and colorectal cancer: a family-based association study on non-syndromic family members from Australia and Spain.Stem cell-like transcriptional reprogramming mediates metastatic resistance to mTOR inhibition.Common genetic variants and modification of penetrance of BRCA2-associated breast cancerExploring the link between MORF4L1 and risk of breast cancer.Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT studyInterplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer.Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families.Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.Effect of one year of a gluten-free diet on the clinical evolution of irritable bowel syndrome plus fibromyalgia in patients with associated lymphocytic enteritis: a case-control study.Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadridCommon breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants.Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.Hereditary familial polyposis and Gardner's syndrome: contribution of the odonto-stomatology examination in its diagnosis and a case description.Functional and structural analysis of C-terminal BRCA1 missense variants.Telomere length and genetic anticipation in Lynch syndromeCandidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes.Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers.Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb.Clinical impact of a gluten-free diet on health-related quality of life in seven fibromyalgia syndrome patients with associated celiac diseaseA locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general populationGermline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancerDissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH.Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriersAssociations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriersIdentification of six new susceptibility loci for invasive epithelial ovarian cancer.Evidence of linkage to chromosomes 10p15.3-p15.1, 14q24.3-q31.1 and 9q33.3-q34.3 in non-syndromic colorectal cancer families.An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriersPathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency
P50
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P50
description
hulumtues
@sq
onderzoeker
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researcher
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ricercatore
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հետազոտող
@hy
name
Ignacio Blanco
@ast
Ignacio Blanco
@en
Ignacio Blanco
@es
Ignacio Blanco
@nl
Ignacio Blanco
@sl
type
label
Ignacio Blanco
@ast
Ignacio Blanco
@en
Ignacio Blanco
@es
Ignacio Blanco
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Ignacio Blanco
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altLabel
I Blanco
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prefLabel
Ignacio Blanco
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Ignacio Blanco
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Ignacio Blanco
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Ignacio Blanco
@nl
Ignacio Blanco
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P214
P1053
D-2565-2013
P106
P1153
26645417200
P1580
P21
P214
P31
P3829
P496
0000-0002-7414-7481
P734
P735
P7859
viaf-305881613