Filtros de búsqueda

Lista de obras de Eladio A Velasco

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

scientific article published on 01 March 2006

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

artículo científico publicado en 2010

A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR.

artículo científico publicado en 2009

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

artículo científico publicado en 2019

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

artículo científico publicado en 2003

Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases

artículo científico publicado en 2013

Analysis of the monomeric alphoid sequences in the pericentromeric region of human chromosome 7

scientific article published on 01 January 1998

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

artículo científico publicado en 2019

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

Calcium-sensing receptor gene A986S polymorphism and bone mass in hypertensive women.

artículo científico publicado en 2006

Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.

artículo científico publicado en 2013

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

article

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

scientific article published on 01 April 1994

Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study

artículo científico publicado en 2018

Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the <i>RAD51C</i> Gene

artículo científico publicado en 2020

Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes

artículo científico publicado en 2012

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

Dinucleotide repeat polymorphism at the D4S2458 locus close to the PKD2 locus on human chromosome 4q

scientific article published on 01 May 1995

Dinucleotide repeat polymorphism between the human C4BPA and C4BPB gene loci (1q32)

artículo científico publicado el 1 de octubre de 1992

Dinucleotide repeat polymorphisms at the D5S1356, D5S1357 and D7S1480 loci

artículo científico publicado en 1994

Frequency of rearrangements in Lynch syndrome cases associated with MSH2: characterization of a new deletion involving both EPCAM and the 5' part of MSH2.

artículo científico publicado en 2011

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.

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.

artículo científico publicado en 2017

Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants

artículo científico publicado en 2018

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

artículo científico publicado en 2006

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

artículo científico publicado en 2013

Heteroduplex analysis by capillary array electrophoresis for rapid mutation detection in large multiexon genes.

artículo científico

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

artículo científico publicado en 2003

Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays.

artículo científico publicado en 2018

Identification of a truncated β1-chimaerin variant that inactivates nuclear Rac1

artículo científico publicado en 2019

Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients.

artículo científico publicado en 1997

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.

artículo científico publicado en 2010

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

artículo científico publicado en 1996

Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15

artículo científico publicado en 2019

Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays

artículo científico publicado en 2019

Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: identification of four novel truncating mutations

artículo científico publicado en 2003

Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2009

Prevalence of CYP2C9 polymorphisms in the south of Europe.

artículo científico publicado en 2009

Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis.

artículo científico publicado en 2005

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

artículo científico publicado en 2014

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.

artículo científico publicado en 2017

The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

article

Two founder BRCA2 mutations predispose to breast cancer in young women

scientific article published on 01 December 2009

UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays

artículo científico publicado en 2020

[BRCA1 and BRCA2 mutations in patients with familial breast cancer].

artículo científico publicado en 2005