Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

VariantDetective: an accurate all-in-one pipeline for detecting consensus bacterial SNPs and SVs.

Charron, Philippe; Kang, Mingsong.

Bioinformatics ; 40(2)2024 02 01.

Artigo em Inglês | MEDLINE | ID: mdl-38366603

2.

Endomyocardial biopsy: safety and prognostic utility in paediatric and adult myocarditis in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Long-Term Registry.

Caforio, Alida L P; Kaski, Juan P; Gimeno, Juan R; Elliott, Perry M; Laroche, Cecile; Tavazzi, Luigi; Tendera, Michal; Fu, Michael; Sala, Simone; Seferovic, Petar M; Heliö, Tiina; Calò, Leonardo; Blagova, Olga; Amin, Ahmad; Kindermann, Ingrid; Sinagra, Gianfranco; Frustaci, Andrea; Bonnet, Daniel; Charron, Philippe; Maggioni, Aldo P.

Eur Heart J ; 2024 Apr 10.

Artigo em Inglês | MEDLINE | ID: mdl-38594778

3.

Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry.

Kaski, Juan Pablo; Norrish, Gabrielle; Gimeno Blanes, Juan Ramon; Charron, Philippe; Elliott, Perry; Tavazzi, Luigi; Tendera, Michal; Laroche, Cécile; Maggioni, Aldo P; Baban, Anwar; Khraiche, Diala; Ziolkowska, Lidia; Limongelli, Giuseppe; Ojala, Tiina; Gorenflo, Matthias; Anastasakis, Aris; Mostafa, Shaimaa; Caforio, Alida L P.

Eur Heart J ; 45(16): 1443-1454, 2024 Apr 21.

Artigo em Inglês | MEDLINE | ID: mdl-38427064

4.

DNA-pools targeted-sequencing as a robust cost-effective method to detect rare variants: Application to dilated cardiomyopathy genetic diagnosis.

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.

Clin Genet ; 105(2): 185-189, 2024 02.

Artigo em Inglês | MEDLINE | ID: mdl-37904629

5.

Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.

Ader, Flavie; Jedraszak, Guillaume; Janin, Alexandre; Billon, Clarisse; Buisson, Nathalie Roux; Bloch, Adrien; Bensalah, Meriem; De Sandre-Giovannoli, Anachiara; Goudal, Adeline; Marsili, Luisa; Cazeneuve, Cécile; Charron, Philippe; Millat, Gilles; Richard, Pascale.

Clin Genet ; 105(6): 676-682, 2024 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-38356193

6.

Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure.

Cannie, Douglas E; Syrris, Petros; Protonotarios, Alexandros; Bakalakos, Athanasios; Pruny, Jean-François; Ditaranto, Raffaello; Martinez-Veira, Cristina; Larrañaga-Moreira, Jose M; Medo, Kristen; Bermúdez-Jiménez, Francisco José; Ben Yaou, Rabah; Leturcq, France; Mezcua, Ainhoa Robles; Marini-Bettolo, Chiara; Cabrera, Eva; Reuter, Chloe; Limeres Freire, Javier; Rodríguez-Palomares, José F; Mestroni, Luisa; Taylor, Matthew R G; Parikh, Victoria N; Ashley, Euan A; Barriales-Villa, Roberto; Jiménez-Jáimez, Juan; Garcia-Pavia, Pablo; Charron, Philippe; Biagini, Elena; García Pinilla, José M; Bourke, John; Savvatis, Konstantinos; Wahbi, Karim; Elliott, Perry M.

Eur Heart J ; 44(48): 5064-5073, 2023 Dec 21.

Artigo em Inglês | MEDLINE | ID: mdl-37639473

7.

Phenotype/Genotype Relationship in Left Ventricular Noncompaction: Ion Channel Gene Mutations Are Associated With Preserved Left Ventricular Systolic Function and Biventricular Noncompaction: Phenotype/Genotype of Noncompaction.

Cambon-Viala, Marie; Gerard, Hilla; Nguyen, Karine; Richard, Pascale; Ader, Flavie; Pruny, Jean-François; Donal, Erwan; Eicher, Jean-Christophe; Huttin, Olivier; Selton-Suty, Christine; Raud-Raynier, Pascale; Jondeau, Guillaume; Mansencal, Nicolas; Sawka, Caroline; Casalta, Anne-Claire; Michel, Nicolas; Donghi, Valeria; Martel, Hélène; Faivre, Laurence; Charron, Philippe; Habib, Gilbert.

J Card Fail ; 27(6): 677-681, 2021 06.

Artigo em Inglês | MEDLINE | ID: mdl-34088380

8.

Health-related quality of life and physical activity in children with inherited cardiac arrhythmia or inherited cardiomyopathy: the prospective multicentre controlled QUALIMYORYTHM study rationale, design and methods.

Amedro, Pascal; Werner, Oscar; Abassi, Hamouda; Boisson, Aymeric; Souilla, Luc; Guillaumont, Sophie; Calderon, Johanna; Requirand, Anne; Vincenti, Marie; Pommier, Victor; Matecki, Stefan; De La Villeon, Gregoire; Lavastre, Kathleen; Lacampagne, Alain; Picot, Marie-Christine; Beyler, Constance; Delclaux, Christophe; Dulac, Yves; Guitarte, Aitor; Charron, Philippe; Denjoy-Urbain, Isabelle; Probst, Vincent; Baruteau, Alban-Elouen; Chevalier, Philippe; Di Filippo, Sylvie; Thambo, Jean-Benoit; Bonnet, Damien; Pasquie, Jean-Luc.

Health Qual Life Outcomes ; 19(1): 187, 2021 Jul 28.

Artigo em Inglês | MEDLINE | ID: mdl-34321045

9.

Assessment of atrial function by myocardial deformation techniques in hypertrophic cardiomyopathy.

Siam-Tsieu, Valerie; Urtado, Sophie; Charron, Philippe; Hergault, Hélène; Szymanski, Catherine; Mallet, Sophie; Dubourg, Olivier; Mansencal, Nicolas.

Echocardiography ; 38(2): 230-237, 2021 02.

Artigo em Inglês | MEDLINE | ID: mdl-33382507

10.

Transcriptomic RNAseq drug screen in cerebrocortical cultures: toward novel neurogenetic disease therapies.

Hadwen, Jeremiah; Schock, Sarah; Mears, Alan; Yang, Robert; Charron, Philippe; Zhang, Liying; Xi, Hualin S; MacKenzie, Alex.

Hum Mol Genet ; 27(18): 3206-3217, 2018 09 15.

Artigo em Inglês | MEDLINE | ID: mdl-29901742

11.

Desmoglein-2 mutations in propeptide cleavage-site causes arrhythmogenic right ventricular cardiomyopathy/dysplasia by impairing extracellular 1-dependent desmosomal interactions upon cellular stress.

Vite, Alexia; Gandjbakhch, Estelle; Hery, Tiphaine; Fressart, Veronique; Gary, Francoise; Simon, Francoise; Varnous, Shaida; Hidden Lucet, Francoise; Charron, Philippe; Villard, Eric.

Europace ; 22(2): 320-329, 2020 02 01.

Artigo em Inglês | MEDLINE | ID: mdl-31845994

12.

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.

Guimier, Anne; Gordon, Christopher T; Godard, François; Ravenscroft, Gianina; Oufadem, Myriam; Vasnier, Christelle; Rambaud, Caroline; Nitschke, Patrick; Bole-Feysot, Christine; Masson, Cécile; Dauger, Stéphane; Longman, Cheryl; Laing, Nigel G; Kugener, Béatrice; Bonnet, Damien; Bouvagnet, Patrice; Di Filippo, Sylvie; Probst, Vincent; Redon, Richard; Charron, Philippe; Rötig, Agnès; Lyonnet, Stanislas; Dautant, Alain; de Pontual, Loïc; di Rago, Jean-Paul; Delahodde, Agnès; Amiel, Jeanne.

Am J Hum Genet ; 99(3): 666-673, 2016 09 01.

Artigo em Inglês | MEDLINE | ID: mdl-27523598

13.

Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity.

Richard, Pascale; Ader, Flavie; Roux, Maguelonne; Donal, Erwan; Eicher, Jean-Christophe; Aoutil, Nadia; Huttin, Olivier; Selton-Suty, Christine; Coisne, Damien; Jondeau, Guillaume; Damy, Thibaud; Mansencal, Nicolas; Casalta, Anne-Claire; Michel, Nicolas; Haentjens, Julie; Faivre, Laurence; Lavoute, Cecile; Nguyen, Karine; Tregouët, David-Alexandre; Habib, Gilbert; Charron, Philippe.

Clin Genet ; 95(3): 356-367, 2019 03.

Artigo em Inglês | MEDLINE | ID: mdl-30471092

14.

FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.

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.

Clin Genet ; 96(4): 317-329, 2019 10.

Artigo em Inglês | MEDLINE | ID: mdl-31245841

15.

The Cardiomyopathy Registry of the EURObservational Research Programme of the European Society of Cardiology: baseline data and contemporary management of adult patients with cardiomyopathies.

Charron, Philippe; Elliott, Perry M; Gimeno, Juan R; Caforio, Alida L P; Kaski, Juan Pablo; Tavazzi, Luigi; Tendera, Michal; Maupain, Carole; Laroche, Cécile; Rubis, Pawel; Jurcut, Ruxandra; Calò, Leonardo; Heliö, Tiina M; Sinagra, Gianfranco; Zdravkovic, Marija; Kavoliuniene, Ausra; Felix, Stephan B; Grzybowski, Jacek; Losi, Maria-Angela; Asselbergs, Folkert W; García-Pinilla, José Manuel; Salazar-Mendiguchia, Joel; Mizia-Stec, Katarzyna; Maggioni, Aldo P.

Eur Heart J ; 39(20): 1784-1793, 2018 05 21.

Artigo em Inglês | MEDLINE | ID: mdl-29378019

16.

Hypertrophic obstructive cardiomyopathy.

Veselka, Josef; Anavekar, Nandan S; Charron, Philippe.

Lancet ; 389(10075): 1253-1267, 2017 03 25.

Artigo em Inglês | MEDLINE | ID: mdl-27912983

17.

High intraspecific genome diversity in the model arbuscular mycorrhizal symbiont Rhizophagus irregularis.

Chen, Eric C H; Morin, Emmanuelle; Beaudet, Denis; Noel, Jessica; Yildirir, Gokalp; Ndikumana, Steve; Charron, Philippe; St-Onge, Camille; Giorgi, John; Krüger, Manuela; Marton, Timea; Ropars, Jeanne; Grigoriev, Igor V; Hainaut, Matthieu; Henrissat, Bernard; Roux, Christophe; Martin, Francis; Corradi, Nicolas.

New Phytol ; 220(4): 1161-1171, 2018 12.

Artigo em Inglês | MEDLINE | ID: mdl-29355972

18.

European Reference Network for rare, low prevalence, or complex diseases of the heart (ERN GUARD-Heart): 5 year anniversary.

Amin, Ahmad S; Biller, Ruth; Charron, Philippe; Wilde, Arthur A M.

Eur Heart J ; 43(23): 2173-2176, 2022 06 14.

Artigo em Inglês | MEDLINE | ID: mdl-35257167

19.

2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death.

Zeppenfeld, Katja; Tfelt-Hansen, Jacob; de Riva, Marta; Winkel, Bo Gregers; Behr, Elijah R; Blom, Nico A; Charron, Philippe; Corrado, Domenico; Dagres, Nikolaos; de Chillou, Christian; Eckardt, Lars; Friede, Tim; Haugaa, Kristina H; Hocini, Mélèze; Lambiase, Pier D; Marijon, Eloi; Merino, Jose L; Peichl, Petr; Priori, Silvia G; Reichlin, Tobias; Schulz-Menger, Jeanette; Sticherling, Christian; Tzeis, Stylianos; Verstrael, Axel; Volterrani, Maurizio.

Eur Heart J ; 43(40): 3997-4126, 2022 10 21.

Artigo em Inglês | MEDLINE | ID: mdl-36017572

20.

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.

Thevenon, Julien; Laurent, Gabriel; Ader, Flavie; Laforêt, Pascal; Klug, Didier; Duva Pentiah, Anju; Gouya, Laurent; Maurage, Claude Alain; Kacet, Salem; Eicher, Jean-Christophe; Albuisson, Juliette; Desnos, Michel; Bieth, Eric; Duboc, Denis; Martin, Laurent; Réant, Patricia; Picard, François; Bonithon-Kopp, Claire; Gautier, Elodie; Binquet, Christine; Thauvin-Robinet, Christel; Faivre, Laurence; Bouvagnet, Patrice; Charron, Philippe; Richard, Pascale.

Europace ; 19(4): 651-659, 2017 Apr 01.

Artigo em Inglês | MEDLINE | ID: mdl-28431061

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