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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
Exome sequencing in arrhythmogenic right ventricular cardiomyopathy: a new diagnostic tool?
Published in:
2017
By:
- Gandjbakhch, Estelle;
- Villard, Eric
Publication type:
Editorial
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
Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.
Published in:
2016
By:
- Perrot, Andreas;
- Tomasov, Pavol;
- Villard, Eric;
- Faludi, Reka;
- Melacini, Paola;
- Lossie, Janine;
- Lohmann, Nadine;
- Richard, Pascale;
- De Bortoli, Marzia;
- Angelini, Annalisa;
- Varga-Szemes, Akos;
- Sperling, Silke R;
- Simor, Tamás;
- Veselka, Josef;
- Özcelik, Cemil;
- Charron, Philippe
Publication type:
journal article
Differential Sarcomere and Electrophysiological Maturation of Human iPSC-Derived Cardiac Myocytes in Monolayer vs. Aggregation-Based Differentiation Protocols.
Published in:
International Journal of Molecular Sciences, 2017, v. 18, n. 6, p. 1173, doi. 10.3390/ijms18061173
By:
- Jeziorowska, Dorota;
- Fontaine, Vincent;
- Jouve, Charlène;
- Villard, Eric;
- Dussaud, Sébastien;
- Akbar, David;
- Letang, Valérie;
- Cervello, Pauline;
- Itier, Jean-Michiel;
- Pruniaux, Marie-Pierre;
- Hulot, Jean-Sébastien
Publication type:
Article
15<sup>es</sup> JSFM: Prix communication affichée 2017: Relations génoty-pephénotype des mutations du gène de la filamine C (FLNC).
Published in:
Médecine Sciences, 2018, v. 34, p. 39, doi. 10.1051/medsci/201834s211
By:
- Ader, Flavie;
- Villard, Eric;
- Ledeuil, Céline;
- Charron, Philippe;
- Richard, Pascale
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
Reply to Ray and Cihlar.
Published in:
2007
By:
- Izzedine, Hassane;
- Hulot, Jean Sebastien;
- Villard, Eric;
- Lechat, Philippe;
- Deray, Gilbert
Publication type:
Letter
Association between ABCC2 Gene Haplotypes and Tenofovir-Induced Proximal Tubulopathy.
Published in:
Journal of Infectious Diseases, 2006, v. 194, n. 11, p. 1481, doi. 10.1086/508546
By:
- Izzedine, Hassane;
- Hulot, Jean-Sebastien;
- Villard, Eric;
- Goyenvalle, Catherine;
- Dominguez, Stephanie;
- Ghosn, Jade;
- Valantin, Marc Antoine;
- Lechat, Philippe;
- Deray, Gilbert
Publication type:
Article
A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.
Published in:
European Heart Journal, 2011, v. 32, n. 9, p. 1065, doi. 10.1093/eurheartj/ehr105
By:
- Villard, Eric;
- Perret, Claire;
- Gary, Françoise;
- Proust, Carole;
- Dilanian, Gilles;
- Hengstenberg, Christian;
- Ruppert, Volker;
- Arbustini, Eloisa;
- Wichter, Thomas;
- Germain, Marine;
- Dubourg, Olivier;
- Tavazzi, Luigi;
- Aumont, Marie-Claude;
- DeGroote, Pascal;
- Fauchier, Laurent;
- Trochu, Jean-Noël;
- Gibelin, Pierre;
- Aupetit, Jean-François;
- Stark, Klaus;
- Erdmann, Jeanette
Publication type:
Article
Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy.
Published in:
European Heart Journal, 2009, v. 30, n. 17, p. 2128, doi. 10.1093/eurheartj/ehp225
By:
- Duboscq-Bidot, Laëtitia;
- Charron, Philippe;
- Ruppert, Volker;
- Fauchier, Laurent;
- Richter, Anette;
- Tavazzi, Luigi;
- Arbustini, Eloisa;
- Wichter, Thomas;
- Maisch, Bernard;
- Komajda, Michel;
- Isnard, Richard;
- Villard, Eric
Publication type:
Article
Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.
Published in:
European Heart Journal, 2005, v. 26, n. 8, p. 794, doi. 10.1093/eurheartj/ehi193
By:
- Villard, Eric;
- Duboscq-Bidot, Laetitia;
- Charron, Philippe;
- Benaiche, Abdelaziz;
- Conraads, Viviane;
- Sylvius, Nicolas;
- Komajda, Michel
Publication type:
Article
Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy.
Published in:
Cardiovascular Research, 2008, v. 77, n. 1, p. 118, doi. 10.1093/cvr/cvm015
By:
- Duboscq-Bidot, Laëtitia;
- Peng Xu;
- Charron, Philippe;
- Neyroud, Nathalie;
- Dilanian, Gilles;
- Millaire, Alain;
- Bors, Valéria;
- Komajda, Michel;
- Villard, Eric
Publication type:
Article
Molecular biology and genetics of the angiotensin-I-converting enzyme: potential implications in cardiovascular diseases.
Published in:
Cardiovascular Research, 1996, v. 32, n. 6, p. 999, doi. 10.1016/S0008-6363(96)00170-8
By:
- Villard, Eric;
- Soubrier, Florent
Publication type:
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
DNA‐pools targeted‐sequencing as a robust cost‐effective method to detect rare variants: Application to dilated cardiomyopathy genetic diagnosis.
Published in:
Clinical Genetics, 2024, v. 105, n. 2, p. 185, doi. 10.1111/cge.14427
By:
- Perret, Claire;
- Proust, Carole;
- Esslinger, Ulrike;
- Ader, Flavie;
- Haas, Jan;
- Pruny, Jean‐François;
- Isnard, Richard;
- Richard, Pascale;
- Trégouët, David‐Alexandre;
- Charron, Philippe;
- Cambien, François;
- Villard, Eric
Publication type:
Article
FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations.
Published in:
Clinical Genetics, 2019, v. 96, n. 4, p. 317, doi. 10.1111/cge.13594
By:
- Ader, Flavie;
- De Groote, Pascal;
- Réant, Patricia;
- Rooryck‐Thambo, Caroline;
- Dupin‐Deguine, Delphine;
- Rambaud, Caroline;
- Khraiche, Diala;
- Perret, Claire;
- Pruny, Jean François;
- Mathieu‐Dramard, Michèle;
- Gérard, Marion;
- Troadec, Yann;
- Gouya, Laurent;
- Jeunemaitre, Xavier;
- Van Maldergem, Lionel;
- Hagège, Albert;
- Villard, Eric;
- Charron, Philippe;
- Richard, Pascale
Publication type:
Article
Observations of Mars with ALMA: potential for future constraints of global circulation models.
Published in:
Journal of Astronomical Telescopes, Instruments & Systems, 2021, v. 7, n. 2, p. 25001, doi. 10.1117/1.JATIS.7.2.025001
By:
- Parks, Maxwell C.;
- Nixon, Conor A.;
- Villanueva, Geronimo L.;
- Smith, Michael D.;
- Khayat, Alain S. J.;
- Thelen, Alexander E.;
- Villard, Eric;
- Charnley, Steven B.;
- Irwin, Patrick G. J.
Publication type:
Article
Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy.
Published in:
Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-017-1286-z
By:
- Heinig, Matthias;
- Adriaens, Michiel E.;
- Schafer, Sebastian;
- van Deutekom, Hanneke W. M.;
- Lodder, Elisabeth M.;
- Ware, James S.;
- Schneider, Valentin;
- Felkin, Leanne E.;
- Creemers, Esther E.;
- Meder, Benjamin;
- Katus, Hugo A.;
- Rühle, Frank;
- Stoll, Monika;
- Cambien, François;
- Villard, Eric;
- Charron, Philippe;
- Varro, Andras;
- Bishopric, Nanette H.;
- George Jr, Alfred L.;
- dos Remedios, Cristobal
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
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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