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List of works by Irene Mademont

A Genetically Vulnerable Myocardium May Predispose to Myocarditis.

scientific article published in December 2015

A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia.

scientific article published on 9 December 2016

Characterization of a 5.8-Mb interstitial deletion of chromosome 3p in a girl with 46,XX,inv(7)dn karyotype and phenotypic abnormalities

scientific article published on 27 October 2009

Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort

scientific article published on 14 July 2015

Correction: Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation

scientific article published on 6 February 2017

Description of the smallest critical region for Dandy-Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32)

scientific article published on 01 September 2010

Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability

scientific article published on 02 February 2012

Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant.

scientific article published on 9 January 2015

GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms

scientific article published on 02 December 2020

Genetic analysis, in silico prediction, and family segregation in long QT syndrome

scientific article

Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology.

scientific article

Large Genomic Imbalances in Brugada Syndrome.

scientific article

MLPA: A prenatal diagnostic tool for the study of congenital heart defects?

article

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation

scientific article

Post-mortem genetic analysis in juvenile cases of sudden cardiac death.

scientific article published on 14 October 2014

Prenatal cytogenetic diagnosis in Spain: analysis and evaluation of the results obtained from amniotic fluid samples during the last decade

scientific article published on 13 April 2011

Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray‐based analysis ⬇️

scientific article published on March 4, 2013

Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocation

scientific article published on 01 December 2009

Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death

scientific article published on 27 October 2015

Subtelomeric MLPA: is it really useful in prenatal diagnosis?

scientific article published on 01 December 2010

Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.

scientific article published on 19 December 2017

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