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List of works by Eladio A Velasco

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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

scientific article published in October 2003
A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.

scientific article published on 9 March 2010
The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain

scientific article published in May 2008
Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers

scientific article published on 16 April 2009
Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes

scientific article
Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer

scientific article published on 22 June 2006
International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

scientific article published on 22 July 2010
Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases

scientific article
Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons

scientific article
A haplotype containing thep53polymorphisms Ins16bp and Arg72Pro modifies cancer risk inBRCA2mutation carriers

scientific article published on 01 March 2006
Heteroduplex analysis by capillary array electrophoresis for rapid mutation detection in large multiexon genes.

scientific article published on January 2007
Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.

scientific article published on 28 October 2013
Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.

scientific article
Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE)

scientific article published on 01 April 1994
Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients.

scientific article published in June 1997
Prevalence of CYP2C9 polymorphisms in the south of Europe.

scientific article published on 21 April 2009
Frequency of rearrangements in Lynch syndrome cases associated with MSH2: characterization of a new deletion involving both EPCAM and the 5' part of MSH2.

scientific article
Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid

scientific article
Characterization of New Founder Alu-Mediated Rearrangements in MSH2 Gene Associated with a Lynch Syndrome Phenotype

article
Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome.

scientific article
High-throughput mutation detection method to scan BRCA1 and BRCA2 based on heteroduplex analysis by capillary array electrophoresis

scientific article published on 18 December 2003
A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR.

scientific article published on 26 February 2009
Analysis of the monomeric alphoid sequences in the pericentromeric region of human chromosome 7

scientific article published on 01 January 1998
Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: identification of four novel truncating mutations

scientific article published on 01 April 2003
Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays

scientific article published on 23 April 2019
Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis.

scientific article
Linkage disequilibrium between four intragenic polymorphic microsatellites of the NF1 gene and its implications for genetic counselling

scientific article
BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin

scientific article published on 02 November 2009
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.

scientific article published on 26 January 2018
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

scientific article published on 19 March 2019
Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays.

scientific article published on 24 May 2018
Calcium-sensing receptor gene A986S polymorphism and bone mass in hypertensive women.

scientific article
Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families of Eastern Spain

article
The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.

scientific article published on 8 August 2013
Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15

scientific article published on 28 May 2019
Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study

scientific article published on 13 July 2018
Evaluating the Effect of Unclassified Variants Identified in MMR Genes Using Phenotypic Features, Bioinformatics Prediction, and RNA Assays

scientific article published on March 20, 2013
Two founder BRCA2 mutations predispose to breast cancer in young women

scientific article published on 01 December 2009
Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants

scientific article published on 15 May 2018
BRCA1 and BRCA2 mutations in patients with familial breast cancer

scientific article published in January 2005
Dinucleotide repeat polymorphisms at the D5S1356, D5S1357 and D7S1480 loci

scientific article published on 01 August 1994
Identification of a truncated β1-chimaerin variant that inactivates nuclear Rac1

scientific article published on 22 December 2019
Dinucleotide repeat polymorphism between the human C4BPA and C4BPB gene loci (1q32)

scientific article published on October 1, 1992
UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays

scientific article published on 06 March 2020
Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene

scientific article published on 15 December 2020
Association Between Bat Vitamin D Receptor 3' Haplotypes and Vitamin D Levels at Baseline and a Lower Response After Increased Vitamin D Supplementation and Exposure to Sunlight

scientific article published on 21 February 2019
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.

scientific article published on 18 November 2017
Dinucleotide repeat polymorphism at the D4S2458 locus close to the PKD2 locus on human chromosome 4q

scientific article published on 01 May 1995

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