Publicaciones (36) Publicaciones de Francisco Ruiz Espejo

2023

  1. Recurrent genetic variants and prioritization of variants of uncertain clinical significance associated with hereditary breast and ovarian cancer in families from the Region of Murcia

    Advances in Laboratory Medicine, Vol. 4, Núm. 3, pp. 279-287

  2. Variantes genéticas recurrentes y priorización de variantes de significado clínico desconocido asociadas al síndrome de cáncer de mama y ovario hereditario en familias de la Región de Murcia

    Advances in Laboratory Medicine, Vol. 4, Núm. 3, pp. 288-297

2022

  1. Next step in molecular genetics of hereditary breast/ovarian cancer: Multigene panel testing in clinical actionably genes and prioritization algorithms in the study of variants of uncertain significance

    European Journal of Medical Genetics, Vol. 65, Núm. 4

2021

  1. Utilidad de los algoritmos de priorización de variantes con significado clínico desconocido en el síndrome de cáncer de mama y ovario hereditario

    Revista de Medicina de Laboratorio, Vol. 2, Núm. 1, pp. 21-29

2020

  1. RAD51C y RAD51D en el síndrome de cáncer de mama y ovario hereditario

    Revista de Medicina de Laboratorio, Vol. 1, Núm. 3, pp. 108-119

2018

  1. Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain)

    European Journal of Medical Genetics, Vol. 61, Núm. 6, pp. 355-361

  2. New insights into the performance of multigene panel testing: Two novel nonsense variants in BRIP1 and TP53 in a young woman with breast cancer

    Cancer Genetics, Vol. 228-229, pp. 1-4

2017

  1. Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical–pathological features in BRCA carriers and non-carriers

    Familial Cancer, Vol. 16, Núm. 4, pp. 477-489

2016

  1. An R1632C variant in the SCN5A gene causing Brugada syndrome

    Molecular Medicine Reports, Vol. 13, Núm. 6, pp. 4677-4680

2015

  1. A mutation in the Z-line Cypher/ZASP protein is associated with arrhythmogenic right ventricular cardiomyopathy

    Clinical Genetics, Vol. 88, Núm. 2, pp. 172-176

2014

  1. Desmoplakin truncations and arrhythmogenic left ventricular cardiomyopathy: Characterizing a phenotype

    Europace, Vol. 16, Núm. 12, pp. 1838-1846

  2. Novel BRCA1 deleterious mutation (c.1918C>T) in familial breast and ovarian cancer syndrome who share a common ancestry

    Familial Cancer, Vol. 13, Núm. 3, pp. 431-435

2013

  1. A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome

    Clinical Genetics, Vol. 83, Núm. 6, pp. 530-538

  2. Síndrome de Barth en la edad adulta: un caso clínico

    Revista Espanola de Cardiologia

2012

  1. Intoxicación por sobredosificación de vitamina D en un lactante

    Revista del laboratorio clínico, Vol. 5, Núm. 1, pp. 49-53

2011

  1. Collagen peptides, interstitial remodelling and sudden cardiac death in hypertrophic cardiomyopathy

    Clinical Chemistry and Laboratory Medicine

2010

  1. Evaluación de la eficacia del cribado prenatal del primer trimestre de embarazo en la Región de Murcia

    Revista del laboratorio clínico, Vol. 3, Núm. 3, pp. 97-103

  2. Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3

    Heart, Vol. 96, Núm. 24, pp. 1980-1984

  3. Niveles de vitamina D en el anciano

    Revista Espanola de Geriatria y Gerontologia

  4. Plasma levels of Von Willebrand factor are increased in patients with hypertrophic cardiomyopathy

    Thrombosis Research, Vol. 126, Núm. 1