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Selective mitochondrial DNA degradation following double-strand breaks
Moretton, Amandine, Morel, Frédéric, Macao, Bertil, Lachaume, Philippe, Ishak, Layal, Lefebvre, Mathilde, Garreau-Balandier, Isabelle, Vernet, Patrick, Falkenberg, Maria, Farge, Géraldine
Published in PloS one (28.04.2017)
Published in PloS one (28.04.2017)
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Journal Article
Perinatal Maturation of Drug Transporters and Claudin‐5 at the Blood–Brain Barrier
Federici, Laetitia, Cisternino, Salvatore, Auvity, Sylvain, Gelot, Antoinette, Becmeur‐Lefebvre, Mathilde, Favier, Maryline, Letort, Gaelle, Mailly, Philippe, Cohen‐Salmon, Martine, Boulay, Anne‐Cécile
Published in CNS neuroscience & therapeutics (01.09.2025)
Published in CNS neuroscience & therapeutics (01.09.2025)
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Journal Article
Tonate Virus and Fetal Abnormalities, French Guiana, 2019
Lambert, Veronique, Enfissi, Antoine, Lefebvre, Mathilde, Pomar, Leo, Kedous, Sobhi, Guimiot, Fabien, Carles, Gabriel, Lavergne, Anne, Rousset, Dominique, Hcini, Najeh
Published in Emerging infectious diseases (01.02.2022)
Published in Emerging infectious diseases (01.02.2022)
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Journal Article
Non-invasive neuromodulation for tinnitus: A meta-analysis and modeling studies
Lefebvre-Demers, Mathilde, Doyon, Nicolas, Fecteau, Shirley
Published in Brain stimulation (01.01.2021)
Published in Brain stimulation (01.01.2021)
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Journal Article
In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder
Feresin, Agnese, Lefebvre, Mathilde, Sjøstrøm, Emilie, Zanus, Caterina, Paccagnella, Elisa, Bruno, Irene, Valencic, Erica, Morgan, Anna, Tommasini, Alberto, Thauvin, Christel, Bayat, Allan, Girotto, Giorgia, Musante, Luciana
Published in Biomolecules (Basel, Switzerland) (01.12.2024)
Published in Biomolecules (Basel, Switzerland) (01.12.2024)
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Journal Article
C3 glomerulopathy is highly prevalent in French Polynesia
Candela, Nelly, Benichou, Nicolas, Lefebvre, Mathilde, Gueguen, Lorraine, Vieira-Martins, Paula, El Sissy, Carine, Sartelet, Hervé, Testevuide, Pascale, Delaval, Ronan, Faguer, Stanislas
Published in Journal of translational autoimmunity (Online) (01.12.2024)
Published in Journal of translational autoimmunity (Online) (01.12.2024)
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Journal Article
Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases
Tessier, Aude, Sarreau, Mélie, Pelluard, Fanny, André, Gwenaelle, Blesson, Sophie, Bucourt, Martine, Dechelotte, Pierre, Faivre, Laurence, Frébourg, Thierry, Goldenberg, Alice, Goua, Valérie, Jeanne-Pasquier, Corinne, Guimiot, Fabien, Laquerriere, Annie, Laurent, Nicole, Lefebvre, Mathilde, Loget, Philippe, Maréchaud, Martine, Mechler, Charlotte, Perez, Marie-Josée, Sabourin, Jean Christophe, Verloes, Alain, Patrier, Sophie, Guerrot, Anne-Marie
Published in Prenatal diagnosis (01.12.2016)
Published in Prenatal diagnosis (01.12.2016)
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Journal Article
Vingt ans après
Formoso, Bernard, Le Failler, Philippe, Lefebvre, Mathilde
Published in Moussons (Marseille) (30.05.2019)
Published in Moussons (Marseille) (30.05.2019)
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Journal Article
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
Nambot, Sophie, Masurel, Alice, El Chehadeh, Salima, Mosca-Boidron, Anne-Laure, Thauvin-Robinet, Christel, Lefebvre, Mathilde, Marle, Nathalie, Thevenon, Julien, Perez-Martin, Stéphanie, Dulieu, Véronique, Huet, Frédéric, Plessis, Ghislaine, Andrieux, Joris, Jouk, Pierre-Simon, Billy-Lopez, Gipsy, Coutton, Charles, Morice-Picard, Fanny, Delrue, Marie-Ange, Heron, Delphine, Rooryck, Caroline, Goldenberg, Alice, Saugier-Veber, Pascale, Joly-Hélas, Géraldine, Calenda, Patricia, Kuentz, Paul, Manouvrier-Hanu, Sylvie, Dupuis-Girod, Sophie, Callier, Patrick, Faivre, Laurence
Published in European journal of human genetics : EJHG (01.06.2016)
Published in European journal of human genetics : EJHG (01.06.2016)
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Journal Article
Odor perception and odor awareness in congenital blindness
Beaulieu-Lefebvre, Mathilde, Schneider, Fabien C., Kupers, Ron, Ptito, Maurice
Published in Brain research bulletin (28.02.2011)
Published in Brain research bulletin (28.02.2011)
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Journal Article
Impacts and Identification of Hearing Aid Refurbishing Programs for People with Hearing Loss: A Scoping Review
Hotton, Mathieu, Prud’Homme, Virginie, Richard, Léa, Cormier, Laurie, Simoneau, Katherine, Lefebvre-Demers, Mathilde, Vincent, Claude, Boucher, Normand
Published in Audiology research (Pavia, Italy) (06.05.2023)
Published in Audiology research (Pavia, Italy) (06.05.2023)
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Journal Article
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis
Nambot, Sophie, Thevenon, Julien, Kuentz, Paul, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Mosca-Boidron, Anne-Laure, Masurel-Paulet, Alice, Lehalle, Daphné, Jean-Marçais, Nolwenn, Lefebvre, Mathilde, Vabres, Pierre, El Chehadeh-Djebbar, Salima, Philippe, Christophe, Tran Mau-Them, Frederic, St-Onge, Judith, Jouan, Thibaud, Chevarin, Martin, Poé, Charlotte, Carmignac, Virginie, Vitobello, Antonio, Callier, Patrick, Rivière, Jean-Baptiste, Faivre, Laurence, Thauvin-Robinet, Christel
Published in Genetics in medicine (01.06.2018)
Published in Genetics in medicine (01.06.2018)
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Journal Article
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A
Slavotinek, Anne, Lefebvre, Mathilde, Brehin, Anne-Claire, Thauvin, Christel, Patrier, Sophie, Sparks, Teresa N., Norton, Mary, Yu, Jingwei, Huang, Eric
Published in European journal of medical genetics (01.02.2022)
Published in European journal of medical genetics (01.02.2022)
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Journal Article
Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life
Thevenon, Julien, Milh, Mathieu, Feillet, François, St-Onge, Judith, Duffourd, Yannis, Jugé, Clara, Roubertie, Agathe, Héron, Delphine, Mignot, Cyril, Raffo, Emmanuel, Isidor, Bertrand, Wahlen, Sandra, Sanlaville, Damien, Villeneuve, Nathalie, Darmency-Stamboul, Véronique, Toutain, Annick, Lefebvre, Mathilde, Chouchane, Mondher, Huet, Frédéric, Lafon, Arnaud, de Saint Martin, Anne, Lesca, Gaetan, El Chehadeh, Salima, Thauvin-Robinet, Christel, Masurel-Paulet, Alice, Odent, Sylvie, Villard, Laurent, Philippe, Christophe, Faivre, Laurence, Rivière, Jean-Baptiste
Published in American journal of human genetics (03.07.2014)
Published in American journal of human genetics (03.07.2014)
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Journal Article
Glycosylphosphatidylinositol Biosynthesis Defect Due To Novel Biallelic Pathogenic Variants in PIGW
Rabouhi, Nazim, Salian, Smrithi, Benkerroum, Hind, Yoshida, Takeshi, Uddin, Humayra, Nguyen, Thi Tuyet Mai, Fujita, Takako, Hirose, Shinichi, Kosaki, Kenjiro, Lefebvre, Mathilde, Bourgon, Nicolas, Thauvin-Robinet, Christel, Kamalova, Aelita, Shakhirova, Almaziya, Gill, Harinder, Lee, Hyun Kyung, Menke, Leonie A., Kinoshita, Taroh, Murakami, Yoshiko, Campeau, Philippe M.
Published in Pediatric neurology (01.06.2025)
Published in Pediatric neurology (01.06.2025)
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Journal Article
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation
Heide, Solveig, Spentchian, Myrtille, Valence, Stéphanie, Buratti, Julien, Mach, Corinne, Lejeune, Elodie, Olin, Valérie, Massimello, Marta, Lehalle, Daphné, Mouthon, Linda, Whalen, Sandra, Faudet, Anne, Mignot, Cyril, Garel, Catherine, Blondiaux, Eleonore, Lefebvre, Mathilde, Quenum-Miraillet, Geneviève, Chantot-Bastaraud, Sandra, Milh, Mathieu, Bretelle, Florence, Portes, Vincent des, Guibaud, Laurent, Putoux, Audrey, Tsatsaris, Vassili, Spodenkiewic, Marta, Layet, Valérie, Dard, Rodolphe, Mandelbrot, Laurent, Guet, Agnès, Moutton, Sébastien, Gorce, Magali, Nizon, Mathilde, Vincent, Marie, Beneteau, Claire, Rocchisanni, Marie-Amélie, Benachi, Alexandra, Saada, Julien, Attié-Bitach, Tania, Guilbaud, Lucie, Maurice, Paul, Friszer, Stéphanie, Jouannic, Jean-Marie, de Villemeur, Thierry Billette, Moutard, Marie-Laure, Keren, Boris, Héron, Delphine
Published in Genetics in medicine (01.11.2020)
Published in Genetics in medicine (01.11.2020)
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Journal Article
In mice and humans, brain microvascular contractility matures postnatally
Slaoui, Leila, Gilbert, Alice, Rancillac, Armelle, Delaunay-Piednoir, Barbara, Chagnot, Audrey, Gerard, Quentin, Letort, Gaëlle, Mailly, Philippe, Robil, Noémie, Gelot, Antoinette, Lefebvre, Mathilde, Favier, Maryline, Dias, Karine, Jourdren, Laurent, Federici, Laetitia, Auvity, Sylvain, Cisternino, Salvatore, Vivien, Denis, Cohen-Salmon, Martine, Boulay, Anne-Cécile
Published in Brain Structure and Function (01.03.2023)
Published in Brain Structure and Function (01.03.2023)
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Journal Article
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants
Smolen, Corrine, Jensen, Matthew, Dyer, Lisa, Pizzo, Lucilla, Tyryshkina, Anastasia, Banerjee, Deepro, Rohan, Laura, Huber, Emily, El Khattabi, Laila, Prontera, Paolo, Caberg, Jean-Hubert, Van Dijck, Anke, Schwartz, Charles, Faivre, Laurence, Callier, Patrick, Mosca-Boidron, Anne-Laure, Lefebvre, Mathilde, Pope, Kate, Snell, Penny, Lockhart, Paul J., Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Luana Mandarà, Giuseppa Maria, Bruccheri, Maria Grazia, Pichon, Olivier, Le Caignec, Cedric, Stoeva, Radka, Cuinat, Silvestre, Mercier, Sandra, Bénéteau, Claire, Blesson, Sophie, Nordsletten, Ashley, Martin-Coignard, Dominique, Sistermans, Erik, Kooy, R. Frank, Amor, David J., Romano, Corrado, Isidor, Bertrand, Juusola, Jane, Girirajan, Santhosh
Published in American journal of human genetics (07.12.2023)
Published in American journal of human genetics (07.12.2023)
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Journal Article
Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases
Jordan, Penelope, Dorval, Guillaume, Arrondel, Christelle, Morinière, Vincent, Tournant, Carole, Audrezet, Marie‐Pierre, Michel‐Calemard, Laurence, Putoux, Audrey, Lesca, Gaethan, Labalme, Audrey, Whalen, Sandra, Loeuillet, Laurence, Martinovic, Jelena, Attie‐Bitach, Tania, Bessières, Bettina, Schaefer, Elise, Scheidecker, Sophie, Lambert, Laetitia, Beneteau, Claire, Patat, Olivier, Boute‐Benejean, Odile, Molin, Arnaud, Guimiot, Fabien, Fontanarosa, Nicolas, Nizon, Mathilde, Lefebvre, Mathilde, Jeanpierre, Cécile, Saunier, Sophie, Heidet, Laurence
Published in Human mutation (01.03.2022)
Published in Human mutation (01.03.2022)
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Journal Article
In mice and humans, brain microvascular contractility matures postnatally
Slaoui, Leila, Gilbert, Alice, Rancillac, Armelle, Delaunay-Piednoir, Barbara, Chagnot, Audrey, Gerard, Quentin, Letort, Gaëlle, Mailly, Philippe, Robil, Noémie, Gelot, Antoinette, Lefebvre, Mathilde, Favier, Maryline, Dias, Karine, Jourdren, Laurent, Federici, Laetitia, Auvity, Sylvain, Cisternino, Salvatore, Vivien, Denis, Cohen-Salmon, Martine, Boulay, Anne-Cécile
Published in Brain structure & function (16.11.2022)
Published in Brain structure & function (16.11.2022)
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Journal Article