Circadian rhythm and circulating cell-free DNA release on healthy subjects
Poulet, Geoffroy, Hulot, Jean-Sébastien, Blanchard, Anne, Bergerot, Damien, Xiao, Wenjin, Ginot, Frederic, Boutonnet-Rodat, Audrey, Justine, Abdelli, Beinse, Guillaume, Geromel, Vanna, Pellegrina, Laurence, Azizi, Michel, Laurent-Puig, Pierre, Benhaim, Leonor, Taly, Valerie
Published in Scientific reports (07.12.2023)
Published in Scientific reports (07.12.2023)
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Characterization of Plasma Cell-Free DNA Integrity Using Droplet-Based Digital PCR: Toward the Development of Circulating Tumor DNA-Dedicated Assays
Poulet, Geoffroy, Garlan, Fanny, Garrigou, Sonia, Zonta, Eleonora, Benhaim, Leonor, Carrillon, Marie-Jennifer, Didelot, Audrey, Le Corre, Delphine, Mulot, Claire, Nizard, Philippe, Ginot, Frederic, Boutonnet-Rodat, Audrey, Blons, Helene, Bachet, Jean-Baptiste, Taïeb, Julien, Zaanan, Aziz, Geromel, Vanna, Pellegrina, Laurence, Laurent-Puig, Pierre, Wang-Renault, Shu-Fang, Taly, Valerie
Published in Frontiers in oncology (06.05.2021)
Published in Frontiers in oncology (06.05.2021)
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Germline Mosaicism in STAT3 : A Pitfall for Genetic Diagnosis, Counseling, and Therapy of Hyper-IgE Syndrome
Sabbagh, Quentin, Cohen, Jean-David, Mortreux, Jérémie, Raymond, Laure, Geromel, Vanna, Boursier, Guilaine, Jeziorski, Eric, Le Moing, Vincent, Bessis, Didier, Geneviève, David
Published in Dermatitis (01.12.2023)
Published in Dermatitis (01.12.2023)
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Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene–phenotype reassessment in clinical routine
Yauy, Kevin, Lecoquierre, François, Baert-Desurmont, Stéphanie, Trost, Detlef, Boughalem, Aicha, Luscan, Armelle, Costa, Jean-Marc, Geromel, Vanna, Raymond, Laure, Richard, Pascale, Coutant, Sophie, Broutin, Mélanie, Lanos, Raphael, Fort, Quentin, Cackowski, Stenzel, Testard, Quentin, Diallo, Abdoulaye, Soirat, Nicolas, Holder, Jean-Marc, Duforet-Frebourg, Nicolas, Bouge, Anne-Laure, Beaumeunier, Sacha, Bertrand, Denis, Audoux, Jerome, Genevieve, David, Mesnard, Laurent, Nicolas, Gael, Thevenon, Julien, Philippe, Nicolas
Published in Genetics in medicine (01.06.2022)
Published in Genetics in medicine (01.06.2022)
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Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype
Le Gac, Gérald, Gourlaouen, Isabelle, Ronsin, Christophe, Géromel, Vanna, Bourgarit, Anne, Parquet, Nathalie, Quemener, Sylvia, Le Maréchal, Cédric, Chen, Jian-Min, Férec, Claude
Published in Blood (15.12.2008)
Published in Blood (15.12.2008)
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Coenzyme Q10 and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits
Geromel, Vanna, Darin, Niklas, Chrétien, Dominique, Bénit, Paule, DeLonlay, Pascale, Rötig, Agnès, Munnich, Arnold, Rustin, Pierre
Published in Molecular genetics and metabolism (01.09.2002)
Published in Molecular genetics and metabolism (01.09.2002)
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Journal Article
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency
Rötig, A, Appelkvist, E L, Geromel, V, Chretien, D, Kadhom, N, Edery, P, Lebideau, M, Dallner, G, Munnich, A, Ernster, L, Rustin, P
Published in The Lancet (British edition) (29.07.2000)
Published in The Lancet (British edition) (29.07.2000)
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Disabled early recruitment of antioxidant defenses in Friedreich's ataxia
CHANTREL-GROUSSARD, Karine, GEROMEL, Vanna, PUCCIO, Hélène, KOENIG, Michel, MUNNICH, Arnold, RÖTIG, Agnès, RUSTIN, Pierre
Published in Human molecular genetics (15.09.2001)
Published in Human molecular genetics (15.09.2001)
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Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA
Geromel, V, Kadhom, N, Cebalos-Picot, I, Ouari, O, Polidori, A, Munnich, A, Rötig, A, Rustin, P
Published in Human molecular genetics (15.05.2001)
Published in Human molecular genetics (15.05.2001)
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Journal Article
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency
RÖTIG, A, APPELKVIST, E.-L, RUSTIN, P, GEROMEL, V, CHRETIEN, D, KADHOM, N, EDERY, P, LEBIDEAU, M, DALLNER, G, MUNNICH, A, ERNSTER, L
Published in The Lancet (British edition) (01.07.2000)
Published in The Lancet (British edition) (01.07.2000)
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Journal Article
Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits
Geromel, Vanna, Darin, Niklas, Chrétien, Dominique, Bénit, Paule, DeLonlay, Pascale, Rötig, Agnès, Munnich, Arnold, Rustin, Pierre
Published in Molecular genetics and metabolism (01.09.2002)
Published in Molecular genetics and metabolism (01.09.2002)
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Journal Article
Synthesis and Preliminary Biological Evaluations of Ionic and Nonionic Amphiphilic α-Phenyl-N-tert-butylnitrone Derivatives
Durand, Grégory, Polidori, Ange, Ouari, Olivier, Tordo, Paul, Geromel, Vanna, Rustin, Pierre, Pucci, Bernard
Published in Journal of medicinal chemistry (20.11.2003)
Published in Journal of medicinal chemistry (20.11.2003)
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Journal Article
Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA
GEROMEL, Vanna, KADHOM, Noman, CEBALOS-PICOT, Irène, OUARI, Olivier, POLIDORI, Ange, MUNNICH, Arnold, RÖTIG, Agnès, RUSTIN, Pierre
Published in Human molecular genetics (01.05.2001)
Published in Human molecular genetics (01.05.2001)
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Journal Article
Exercise Induces Myonuclear Ubiquitination and Apoptosis in Dystrophin-deficient Muscle of Mice
SANDRI, MARCO, PODHORSKA-OKOLOW, MARZENA, GEROMEL, VANNA, RIZZI, CORRADO, ARSLAN, PAOLA, FRANCESCHI, CLAUDIO, CARRARO, UGO
Published in Journal of neuropathology and experimental neurology (01.01.1997)
Published in Journal of neuropathology and experimental neurology (01.01.1997)
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Respiratory chain deficiency presenting as congenital nephrotic syndrome
Goldenberg, Alice, Ngoc, Linh Huynh, Thouret, Marie-Christine, Cormier-Daire, Valérie, Gagnadoux, Marie-France, Chrétien, Dominique, Lefrançois, Catherine, Geromel, Vanna, Rötig, Agnès, Rustin, Pierre, Munnich, Arnold, Paquis, Véronique, Antignac, Corinne, Gubler, Marie-Claire, Niaudet, Patrick, de Lonlay, Pascale, Bérard, Etienne
Published in Pediatric nephrology (Berlin, West) (01.04.2005)
Published in Pediatric nephrology (Berlin, West) (01.04.2005)
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Journal Article
Coenzyme Q 10 and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits
Geromel, Vanna, Darin, Niklas, Chrétien, Dominique, Bénit, Paule, DeLonlay, Pascale, Rötig, Agnès, Munnich, Arnold, Rustin, Pierre
Published in Molecular genetics and metabolism (2002)
Published in Molecular genetics and metabolism (2002)
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