about
Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenesLinkage disequilibrium between four intragenic polymorphic microsatellites of the NF1 gene and its implications for genetic counsellingSevere alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadridAnalysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer casesFunctional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exonsFunctional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.Heteroduplex analysis by capillary array electrophoresis for rapid mutation detection in large multiexon genes.The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain.Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome.Prevalence of CYP2C9 polymorphisms in the south of Europe.The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients.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.Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.The Effect of Genistein Supplementation on Vitamin D Levels and Bone Turnover Markers during the Summer in Healthy Postmenopausal Women: Role of Genotypes of Isoflavone Metabolism.Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers.A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR.A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.Frequency of rearrangements in Lynch syndrome cases associated with MSH2: characterization of a new deletion involving both EPCAM and the 5' part of MSH2.Calcium-sensing receptor gene A986S polymorphism and bone mass in hypertensive women.Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis.[BRCA1 and BRCA2 mutations in patients with familial breast cancer].Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays.Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancerCharacterization of New Founder Alu-Mediated Rearrangements in MSH2 Gene Associated with a Lynch Syndrome PhenotypeTwenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families of Eastern SpainDinucleotide repeat polymorphisms at the D5S1356, D5S1357 and D7S1480 lociGenomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer.A haplotype containing thep53polymorphisms Ins16bp and Arg72Pro modifies cancer risk inBRCA2mutation carriersAnalysis of the monomeric alphoid sequences in the pericentromeric region of human chromosome 7Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE)Dinucleotide repeat polymorphism at the D4S2458 locus close to the PKD2 locus on human chromosome 4qMutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: identification of four novel truncating mutationsHigh-throughput mutation detection method to scan BRCA1 and BRCA2 based on heteroduplex analysis by capillary array electrophoresisBRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish originTwo founder BRCA2 mutations predispose to breast cancer in young womenGenetic dissection of the BRCA2 promoter and transcriptional impact of DNA variantsCharacterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study
P50
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P50
description
researcher
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wetenschapper
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հետազոտող
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name
Eladio A Velasco
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Eladio A Velasco
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Eladio A Velasco
@es
Eladio A Velasco
@nl
type
label
Eladio A Velasco
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Eladio A Velasco
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Eladio A Velasco
@es
Eladio A Velasco
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prefLabel
Eladio A Velasco
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Eladio A Velasco
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Eladio A Velasco
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Eladio A Velasco
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P106
P1153
57196578155
7004430861
P21
P31
P496
0000-0002-9682-5589