Eladio Andrés Velasco-Sampedro

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Spain

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Recent Grants

Grant: Close

Splicing aberrante en cáncer de mama hereditario: Análisis funcional de genes de susceptibilidad mediante minigenes híbridos

Open Date: 2018-01-01

Close Date: 2020-12-31

Grant: Close

Alteraciones de la transcripción y splicing de los genes BRCA1 y BRCA2 y susceptibilidad genética a cáncer de mama y ovario.

Open Date: 2014-01-01

Close Date: 2016-12-31

Articles (10)

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2024

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2023

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2022

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2022

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2022

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2022

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2022

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2021

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2020

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2020

Collaborators (6)

Elena Bueno Martínez

Profesora Ayudante Doctora

Universidad de Valladolid

SPAIN

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Maaike P.G. Vreeswijk

Associate Professor

Leiden University Medical Center

NETHERLANDS

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Emanuele Buratti

Contracted Professor- Transcriptomic Course

Università degli Studi di Torino

ITALY

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Matthias Schlesner

University of Augsburg

GERMANY

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Peter Devilee

Professor in Tumor Genetics, section leader

Leiden University Medical Center

NETHERLANDS

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Jan Lubiński

Pomeranian Medical University

POLAND

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Eladio Andrés Velasco-Sampedro

Research Interests

Explore related searches

Contact this professor

Recent Grants

Articles (10)

Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants.

Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants

Germline Variants of <i>CYBA</i> and <i>TRPM4</i> Predispose to Familial Colorectal Cancer

Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants

Minigene‐based splicing analysis and ACMG/AMP‐based tentative classification of 56 <i>ATM</i> variants

Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C

Splicing predictions, minigene analyses, and ACMG ‐ AMP clinical classification of 42 germline PALB2 splice‐site variants

<i>RAD51D</i> Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants

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

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

Collaborators (6)

Elena Bueno Martínez

Maaike P.G. Vreeswijk

Emanuele Buratti

Matthias Schlesner

Peter Devilee

Jan Lubiński

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