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Genetic characterization of KCNQ1 variants improves risk stratification in type 1 long QT syndrome patients.
Published in:
EP: Europace, 2024, v. 26, n. 6, p. 1, doi. 10.1093/europace/euae136
By:
- Morgat, Charles;
- Fressart, Véronique;
- Porretta, Alessandra Pia;
- Neyroud, Nathalie;
- Messali, Anne;
- Temmar, Yassine;
- Algalarrondo, Vincent;
- Surget, Elodie;
- Bloch, Adrien;
- Leenhardt, Antoine;
- Denjoy, Isabelle;
- Extramiana, Fabrice
Publication type:
Article
Desmoglein-2 mutations in propeptide cleavage-site causes arrhythmogenic right ventricular cardiomyopathy/dysplasia by impairing extracellular 1-dependent desmosomal interactions upon cellular stress.
Published in:
2020
By:
- Vite, Alexia;
- Gandjbakhch, Estelle;
- Hery, Tiphaine;
- Fressart, Veronique;
- Gary, Francoise;
- Simon, Francoise;
- Varnous, Shaida;
- Lucet, Francoise Hidden;
- Charron, Philippe;
- Villard, Eric;
- Hidden Lucet, Francoise
Publication type:
journal article
Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation.
Published in:
2013
By:
- Delannoy, Eric;
- Sacher, Frédéric;
- Maury, Philippe;
- Mabo, Philippe;
- Mansourati, Jacques;
- Magnin, Isabelle;
- Camous, Jean-Pierre;
- Tournant, Guillaume;
- Rendu, Eric;
- Kyndt, Florence;
- Haïssaguerre, Michel;
- Bézieau, Stéphane;
- Guyomarch, Béatrice;
- Le Marec, Hervé;
- Fressart, Véronique;
- Denjoy, Isabelle;
- Probst, Vincent
Publication type:
Journal Article
Cardiac characteristics and long-term outcome in Andersen–Tawil syndrome patients related to KCNJ2 mutation.
Published in:
EP: Europace, 2013, v. 15, n. 12, p. 1805, doi. 10.1093/europace/eut160
By:
- Delannoy, Eric;
- Sacher, Frédéric;
- Maury, Philippe;
- Mabo, Philippe;
- Mansourati, Jacques;
- Magnin, Isabelle;
- Camous, Jean-Pierre;
- Tournant, Guillaume;
- Rendu, Eric;
- Kyndt, Florence;
- Haïssaguerre, Michel;
- Bézieau, Stéphane;
- Guyomarch, Béatrice;
- Le Marec, Hervé;
- Fressart, Véronique;
- Denjoy, Isabelle;
- Probst, Vincent
Publication type:
Article
Screening of genes encoding junctional candidates in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Published in:
EP: Europace, 2013, v. 15, n. 10, p. 1522, doi. 10.1093/europace/eut224
By:
- Gandjbakhch, Estelle;
- Vite, Alexia;
- Gary, Françoise;
- Fressart, Véronique;
- Donal, Erwan;
- Simon, Françoise;
- Hidden-Lucet, Françoise;
- Komajda, Michel;
- Charron, Philippe;
- Villard, Eric
Publication type:
Article
A Type 2 Ryanodine Receptor Variant in the Helical Domain 2 Associated with an Impairment of the Adrenergic Response.
Published in:
Journal of Personalized Medicine, 2021, v. 11, n. 6, p. 579, doi. 10.3390/jpm11060579
By:
- Blancard, Malorie;
- Touat-Hamici, Zahia;
- Aguilar-Sanchez, Yuriana;
- Yin, Liheng;
- Vaksmann, Guy;
- Roux-Buisson, Nathalie;
- Fressart, Véronique;
- Denjoy, Isabelle;
- Klug, Didier;
- Neyroud, Nathalie;
- Ramos-Franco, Josefina;
- Gomez, Ana Maria;
- Guicheney, Pascale
Publication type:
Article
Intérêt du séquençage combiné du génome mitochondrial et d'un panel ciblé de gènes nucléaires impliqués dans les maladies mitochondriales.
Published in:
Annales de Biologie Clinique, 2021, v. 79, n. 1, p. 28, doi. 10.1684/abc.2021.1621
By:
- Rucheton, Benoit;
- Ader, Flavie;
- Goudenege, David;
- Filaut, Sandrine;
- Legrand, Laura;
- Bloch, Adrien;
- MitoDiag, Réseau;
- Fressart, Véronique;
- Bonnefont-Rousselot, Dominique;
- Mochel, Fanny;
- Lamari, Foudil;
- Richard, Pascale;
- Procaccio, Vincent;
- Bannwarth, Sylvie
Publication type:
Article
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
Published in:
Nature Genetics, 2013, v. 45, n. 11, p. 1409, doi. 10.1038/ng1113-1409b
By:
- Bezzina, Connie R;
- Barc, Julien;
- Mizusawa, Yuka;
- Remme, Carol Ann;
- Gourraud, Jean-Baptiste;
- Simonet, Floriane;
- Verkerk, Arie O;
- Schwartz, Peter J;
- Crotti, Lia;
- Dagradi, Federica;
- Guicheney, Pascale;
- Fressart, Véronique;
- Leenhardt, Antoine;
- Antzelevitch, Charles;
- Bartkowiak, Susan;
- Schulze-Bahr, Eric;
- Zumhagen, Sven;
- Behr, Elijah R;
- Bastiaenen, Rachel;
- Tfelt-Hansen, Jacob
Publication type:
Article
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
Published in:
Nature Genetics, 2013, v. 45, n. 9, p. 1044, doi. 10.1038/ng.2712
By:
- Bezzina, Connie R;
- Barc, Julien;
- Mizusawa, Yuka;
- Remme, Carol Ann;
- Gourraud, Jean-Baptiste;
- Simonet, Floriane;
- Verkerk, Arie O;
- Schwartz, Peter J;
- Crotti, Lia;
- Dagradi, Federica;
- Guicheney, Pascale;
- Fressart, Véronique;
- Leenhardt, Antoine;
- Antzelevitch, Charles;
- Bartkowiak, Susan;
- Schulze-Bahr, Eric;
- Zumhagen, Sven;
- Behr, Elijah R;
- Bastiaenen, Rachel;
- Tfelt-Hansen, Jacob
Publication type:
Article
Desmosomal Cadherins Are Decreased in Explanted Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patient Hearts.
Published in:
PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0075082
By:
- Vite, Alexia;
- Gandjbakhch, Estelle;
- Prost, Catherine;
- Fressart, Veronique;
- Fouret, Pierre;
- Neyroud, Nathalie;
- Gary, Françoise;
- Donal, Erwan;
- Varnous, Shaida;
- Fontaine, Guy;
- Fornes, Paul;
- Hidden-Lucet, Françoise;
- Komajda, Michel;
- Charron, Philippe;
- Villard, Eric
Publication type:
Article
Brugada syndrome and fever: Genetic and molecular characterization of patients carrying SCN5A mutations
Published in:
Cardiovascular Research, 2005, v. 67, n. 3, p. 510, doi. 10.1016/j.cardiores.2005.03.024
By:
- Keller, Dagmar I.;
- Rougier, Jean-Sébastien;
- Kucera, Jan P.;
- Benammar, Nawal;
- Fressart, Véronique;
- Guicheney, Pascale;
- Madle, Alois;
- Fromer, Martin;
- Schläpfer, Jürg;
- Abriel, Hugues
Publication type:
Article
High risk of heart failure associated with desmoglein-2 mutations compared to plakophilin-2 mutations in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Published in:
2019
By:
- Hermida, Alexis;
- Fressart, Véronique;
- Hidden‐Lucet, Francoise;
- Donal, Erwan;
- Probst, Vincent;
- Deharo, Jean‐Claude;
- Chevalier, Philippe;
- Klug, Didier;
- Mansencal, Nicolas;
- Delacretaz, Etienne;
- Cosnay, Pierre;
- Scanu, Patrice;
- Extramiana, Fabrice;
- Keller, Dagmar I.;
- Rouanet, Stephanie;
- Charron, Philippe;
- Gandjbakhch, Estelle;
- Hidden-Lucet, Francoise;
- Deharo, Jean-Claude
Publication type:
journal article
A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity.
Published in:
2013
By:
- Friedrich, Felix W;
- Dilanian, Gilles;
- Khattar, Patricia;
- Juhr, Denise;
- Gueneau, Lucie;
- Charron, Philippe;
- Fressart, Véronique;
- Vilquin, Jean-Thomas;
- Isnard, Richard;
- Gouya, Laurent;
- Richard, Pascale;
- Hammoudi, Naima;
- Komajda, Michel;
- Bonne, Gisèle;
- Eschenhagen, Thomas;
- Dubourg, Olivier;
- Villard, Eric;
- Carrier, Lucie
Publication type:
Journal Article
A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity.
Published in:
European Journal of Heart Failure, 2013, v. 15, n. 3, p. 267, doi. 10.1093/eurjhf/hfs178
By:
- Friedrich, Felix W.;
- Dilanian, Gilles;
- Khattar, Patricia;
- Juhr, Denise;
- Gueneau, Lucie;
- Charron, Philippe;
- Fressart, Véronique;
- Vilquin, Jean ‐ Thomas;
- Isnard, Richard;
- Gouya, Laurent;
- Richard, Pascale;
- Hammoudi, Naima;
- Komajda, Michel;
- Bonne, Gisèle;
- Eschenhagen, Thomas;
- Dubourg, Olivier;
- Villard, Eric;
- Carrier, Lucie
Publication type:
Article
Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.
Published in:
Frontiers in Pharmacology, 2016, v. 6, p. 1, doi. 10.3389/fphar.2015.00314
By:
- Loussouarn, Gildas;
- Sternberg, Damien;
- Nicole, Sophie;
- Marionneau, Céline;
- Le Bouffant, Francoise;
- Toumaniantz, Gilles;
- Barc, Julien;
- Malak, Olfat A.;
- Fressart, Véronique;
- Péréon, Yann;
- Baró, Isabelle;
- Charpentier, Flavien
Publication type:
Article
Physiological and pathophysiological insights of Nav1.4 and Nav1.5 comparison.
Published in:
Frontiers in Pharmacology, 2015, v. 6, p. 1, doi. 10.3389/fphar.2015.00314
By:
- Loussouarn, Gildas;
- Sternberg, Damien;
- Nicole, Sophie;
- Marionneau, Céline;
- Le Bouffant, Francoise;
- Toumaniantz, Gilles;
- Barc, Julien;
- Malak, Olfat A.;
- Fressart, Véronique;
- Péréon, Yann;
- Baró, Isabelle;
- Charpentier, Flavien
Publication type:
Article
Novel SCN5A mutations in two families with "Brugada-like" ST elevation in the inferior leads and conduction disturbances.
Published in:
2013
By:
- Maury, Philippe;
- Moreau, Adrien;
- Hidden-Lucet, Francoise;
- Leenhardt, Antoine;
- Fressart, Veronique;
- Berthet, Myriam;
- Denjoy, Isabelle;
- Bennamar, Nawal;
- Rollin, Anne;
- Cardin, Christelle;
- Guicheney, Pascale;
- Chahine, Mohamed
Publication type:
journal article
Novel SCN5A mutations in two families with 'Brugada-like' ST elevation in the inferior leads and conduction disturbances.
Published in:
Journal of Interventional Cardiac Electrophysiology, 2013, v. 37, n. 2, p. 131, doi. 10.1007/s10840-013-9805-7
By:
- Maury, Philippe;
- Moreau, Adrien;
- Hidden-Lucet, Francoise;
- Leenhardt, Antoine;
- Fressart, Veronique;
- Berthet, Myriam;
- Denjoy, Isabelle;
- Bennamar, Nawal;
- Rollin, Anne;
- Cardin, Christelle;
- Guicheney, Pascale;
- Chahine, Mohamed
Publication type:
Article
A novel gain‐of‐function mutation in SCN5A responsible for multifocal ectopic Purkinje‐related premature contractions.
Published in:
Human Mutation, 2020, v. 41, n. 4, p. 850, doi. 10.1002/humu.23981
By:
- Doisne, Nicolas;
- Waldmann, Victor;
- Redheuil, Alban;
- Waintraub, Xavier;
- Fressart, Véronique;
- Ader, Flavie;
- Fossé, Lucie;
- Hidden‐Lucet, Françoise;
- Gandjbakhch, Estelle;
- Neyroud, Nathalie
Publication type:
Article
Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.
Published in:
EP: Europace, 2010, v. 12, n. 6, p. 861, doi. 10.1093/europace/euq104
By:
- Fressart, Veronique;
- Duthoit, Guillaume;
- Donal, Erwan;
- Probst, Vincent;
- Deharo, Jean-Claude;
- Chevalier, Philippe;
- Klug, Didier;
- Dubourg, Olivier;
- Delacretaz, Etienne;
- Cosnay, Pierre;
- Scanu, Patrice;
- Extramiana, Fabrice;
- Keller, Dagmar;
- Hidden-Lucet, Françoise;
- Simon, Françoise;
- Bessirard, Vanessa;
- Roux-Buisson, Nathalie;
- Hebert, Jean-Louis;
- Azarine, Arshid;
- Casset-Senon, Daniele
Publication type:
Article
Sporadic arrhythmogenic right ventricular cardiomyopathy/dysplasia due to a de novo mutation.
Published in:
EP: Europace, 2009, v. 11, n. 3, p. 379, doi. 10.1093/europace/eun378
By:
- Gandjbakhch, Estelle;
- Fressart, Véronique;
- Bertaux, Géraldine;
- Faivre, Laurence;
- Simon, Françoise;
- Frank, Robert;
- Fontaine, Guy;
- Villard, Eric;
- Coirault, Catherine;
- Hainque, Bernard;
- Charron, Philippe
Publication type:
Article
The occurrence of Brugada syndrome and isolated cardiac conductive disease in the same family could be due to a single SCN5A mutation or to the accidental association of both diseases.
Published in:
EP: Europace, 2008, v. 10, n. 1, p. 79
By:
- Six, Isabelle;
- Hermida, Jean-Sylvain;
- Huang, Hai;
- Gouas, Laetitia;
- Fressart, Véronique;
- Benammar, Nawal;
- Hainque, Bernard;
- Denjoy, Isabelle;
- Chahine, Mohamed;
- Guicheney, Pascale
Publication type:
Article
Challenging indication of cardioverter defibrillator implantation after sudden cardiac arrest in the very young: a case series of catecholaminergic polymorphic ventricular tachycardia secondary to de novo calmodulin p.Asn98Ser.
Published in:
European Heart Journal Case Reports, 2021, v. 5, n. 10, p. 1, doi. 10.1093/ehjcr/ytab393
By:
- Maltret, Alice;
- Benaich, Fatima Azzahrae;
- Rendu, John;
- Fressart, Véronique;
- Roux-Buisson, Nathalie;
- Bonnet, Damien;
- Denjoy, Isabelle
Publication type:
Article
Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy.
Published in:
Open Medicine, 2020, v. 15, n. 1, p. 435, doi. 10.1515/med-2020-0150
By:
- Marey, Isabelle;
- Fressart, Véronique;
- Rambaud, Caroline;
- Fornes, Paul;
- Martin, Laurent;
- Grotto, Sarah;
- Alembik, Yves;
- Gorka, Hervé;
- Millat, Gilles;
- Gandjbakhch, Estelle;
- Bordet, Céline;
- Lorin de la Grandmaison, Geoffroy;
- Richard, Pascale;
- Charron, Philippe
Publication type:
Article
Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Published in:
PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0181840
By:
- Fedida, Joel;
- Fressart, Veronique;
- Charron, Philippe;
- Surget, Elodie;
- Hery, Tiphaine;
- Richard, Pascale;
- Donal, Erwan;
- Keren, Boris;
- Duthoit, Guillaume;
- Hidden-Lucet, Françoise;
- Villard, Eric;
- Gandjbakhch, Estelle
Publication type:
Article

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