Search Results - "Vincenti, Marie"

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    Generation of patient-specific induced pluripotent stem cell lines with Type 2 Long QT Syndrome and the KCNH2 c.379C > T pathogenic variant by Goual, Lamia, Bounasri, Elisa, Vincenti, Marie, Amédro, Pascal, Desprat, Romain, Bernex, Florence, Lemaitre, Jean-Marc, Pasquié, Jean-Luc, Lacampagne, Alain, Thireau, Jérôme, Meli, Albano C

    Published in Stem cell research (01-10-2023)
    “…Type 2 Long QT Syndrome (LQT2) is a rare genetic heart rhythm disorder causing life-threatening arrhythmias. We derived induced pluripotent stem cell (iPSC)…”
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    Journal Article
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    Use of T1 mapping in cardiac MRI for the follow-up of Fabry disease in a pediatric population by Werner, Oscar, Ichay, Lydia, Djouadi, Nabila, Vetromile, Fernando, Vincenti, Marie, Guillaumont, Sophie, Germain, Dominique P., Fila, Marc

    Published in Molecular genetics and metabolism reports (01-03-2024)
    “…Fabry disease (FD) is a rare X-linked lysosomal disorder caused by pathogenic variants in the alpha-galactosidase-A gene (GLA). Life threatening complications…”
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    Journal Article
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    Cardiac rehabilitation in children and adolescents with long QT syndrome: the RYTHMO'FIT pilot study by Souilla, Luc, Guillaumont, Sophie, Auer, Annie, Metzler, Gael, Requirand, Anne, Vincenti, Marie, De La Villeon, Gregoire, Pasquie, Jean-Luc, Mottet, Denis, Amedro, Pascal

    “…To assess the feasibility, acceptability, safety, and short-term benefits of a tailored cardiac rehabilitation program for children and adolescents with long…”
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    Journal Article
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    Generation of catecholaminergic polymorphic ventricular tachycardia patient-specific induced pluripotent stem cell line by Colombani, Sarah, Bernardin, Albin A., Vincenti, Marie, Amédro, Pascal, Desprat, Romain, Bernex, Florence, Lemaitre, Jean-Marc, Pasquié, Jean-Luc, Lacampagne, Alain, Meli, Albano C.

    Published in Stem cell research (01-04-2022)
    “…Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a genetic disorder characterized by ventricular tachycardia, that can cause the heart to stop…”
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    Journal Article
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    Diazoxide Causality Assessment of a Pericardial Effusion in a Child with Kabuki Syndrome by Maffre, Irene, Vincenti, Marie, Dalla Vale, Fabienne, Amouroux, Cyril, Werner, Oscar, Meilhac, Alexandra, de Barry, Gaelle, Amedro, Pascal

    “…A 15 month-old girl with KS (KDM6A mutation) was referred to our tertiary care paediatric cardiology centre for respiratory and hemodynamic distress. Her…”
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    Journal Article
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    How should we determine normal echocardiographic right ventricle function reference values in pediatrics? by Bredy, Charlene, Soulatges, Camille, Guillaumont, Sophie, Vincenti, Marie, De La Villeon, Gregoire, Mura, Thibault, Amedro, Pascal

    “…Several models have been used to establish pediatric Z-scores for echocardiographic right ventricle (RV) variables. This study aimed to determine the most…”
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    Thoracic computed tomography in absent pulmonary valve syndrome management by Vincenti, Marie, Jacquot, Aurélien, Guillaumont, Sophie, Milési, Christophe, Saguintaah, Magali, Pidoux, Odile, Kreitmann, Bernard, Rideau, Aline, Cambonie, Gilles

    Published in Pediatrics international (01-12-2012)
    “…A neonate with absent pulmonary valve syndrome (APVS) and features of tetralogy of Fallot presented respiratory distress. The prolonged need for mechanical…”
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    Cardiopulmonary fitness in children with congenital heart diseases versus healthy children by Amedro, Pascal, Gavotto, Arthur, Guillaumont, Sophie, Bertet, Helena, Vincenti, Marie, De La Villeon, Gregoire, Bredy, Charlène, Acar, Philippe, Ovaert, Caroline, Picot, Marie-Christine, Matecki, Stefan

    Published in Heart (British Cardiac Society) (01-06-2018)
    “…We aimed to compare the cardiopulmonary fitness of children with congenital heart diseases (CHD) with that of age-adjusted and gender-adjusted controls. We…”
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    Journal Article
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    Isolated Ventricular Inversion: A Rare Complex Congenital Heart Disease With Neonatal Cyanosis by Gavotto, Arthur, Vincenti, Marie, Guillaumont, Sophie

    Published in JACC. Case reports (15-02-2023)
    “…A 1-day-old girl was referred for a cardiology consultation for a mean saturation at 80% without respiratory distress. Echocardiography showed an isolated…”
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    Isolated Ventricular Inversion by Gavotto, Arthur, Vincenti, Marie, Guillaumont, Sophie

    Published in JACC. Case reports (15-02-2023)
    “…A 1-day-old girl was referred for a cardiology consultation for a mean saturation at 80% without respiratory distress. Echocardiography showed an isolated…”
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    Journal Article
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    Early Myocardial Dysfunction and Benefits of Cardiac Treatment in Young X-Linked Duchenne Muscular Dystrophy Mice by Vincenti, Marie, Farah, Charlotte, Amedro, Pascal, Scheuermann, Valerie, Lacampagne, Alain, Cazorla, Olivier

    Published in Cardiovascular drugs and therapy (01-10-2022)
    “…Context Duchenne muscular dystrophy (DMD) is associated with a progressive alteration in cardiac function. Objective The aim of this study was to detect early…”
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    Journal Article