Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
Pasmant, Eric, Parfait, Béatrice, Luscan, Armelle, Goussard, Philippe, Briand-Suleau, Audrey, Laurendeau, Ingrid, Fouveaut, Corinne, Leroy, Chrystel, Montadert, Annelore, Wolkenstein, Pierre, Vidaud, Michel, Vidaud, Dominique
Published in European journal of human genetics : EJHG (01.05.2015)
Published in European journal of human genetics : EJHG (01.05.2015)
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NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience
Sabbagh, Audrey, Pasmant, Eric, Imbard, Apolline, Luscan, Armelle, Soares, Magali, Blanché, Hélène, Laurendeau, Ingrid, Ferkal, Salah, Vidaud, Michel, Pinson, Stéphane, Bellanné-Chantelot, Christine, Vidaud, Dominique, Parfait, Béatrice, Wolkenstein, Pierre
Published in Human mutation (01.11.2013)
Published in Human mutation (01.11.2013)
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Accuracy of saliva and nasopharyngeal sampling for detection of SARS-CoV-2 in community screening: a multicentric cohort study
Kernéis, Solen, Elie, Caroline, Fourgeaud, Jacques, Choupeaux, Laure, Delarue, Séverine Mercier, Alby, Marie-Laure, Quentin, Pierre, Pavie, Juliette, Brazille, Patricia, Néré, Marie Laure, Minier, Marine, Gabassi, Audrey, Gibaud, Aurélien, Gauthier, Sébastien, Leroy, Chrystel, Voirin-Mathieu, Etienne, Poyart, Claire, Vidaud, Michel, Parfait, Béatrice, Delaugerre, Constance, Tréluyer, Jean-Marc, LeGoff, Jérôme
Published in European journal of clinical microbiology & infectious diseases (01.11.2021)
Published in European journal of clinical microbiology & infectious diseases (01.11.2021)
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SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing
Leman, Raphaël, Parfait, Béatrice, Vidaud, Dominique, Girodon, Emmanuelle, Pacot, Laurence, Le Gac, Gérald, Ka, Chandran, Ferec, Claude, Fichou, Yann, Quesnelle, Céline, Aucouturier, Camille, Muller, Etienne, Vaur, Dominique, Castera, Laurent, Boulouard, Flavie, Ricou, Agathe, Tubeuf, Hélène, Soukarieh, Omar, Gaildrat, Pascaline, Riant, Florence, Guillaud‐Bataille, Marine, Caputo, Sandrine M., Caux‐Moncoutier, Virginie, Boutry‐Kryza, Nadia, Bonnet‐Dorion, Françoise, Schultz, Ines, Rossing, Maria, Quenez, Olivier, Goldenberg, Louis, Harter, Valentin, Parsons, Michael T., Spurdle, Amanda B., Frébourg, Thierry, Martins, Alexandra, Houdayer, Claude, Krieger, Sophie
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
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Usefulness and analytical performances of complement multiplex assay for measuring complement biomarkers in plasma
Meuleman, Marie-Sophie, Duval, Anna, Grunenwald, Anne, Rezola Artero, Mikel, Dermani, Mohamed, Peliconi, Julie, Revel, Margot, Vieira-Martins, Paula, Courbebaisse, Marie, Parfait, Béatrice, Lebeaux, David, Friedlander, Gérard, Roumenina, Lubka, Chauvet, Sophie, Frémeaux-Bacchi, Véronique, Dragon-Durey, Marie-Agnès
Published in Clinica chimica acta (01.02.2024)
Published in Clinica chimica acta (01.02.2024)
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MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by NF1 loss in Schwann cells and skeletal stem/progenitor cells
Perrin, Simon, Protic, Sanela, Bretegnier, Vincent, Laurendeau, Ingrid, de Lageneste, Oriane Duchamp, Panara, Nicolas, Ruckebusch, Odile, Luka, Marine, Masson, Cécile, Maillard, Théodora, Coulpier, Fanny, Pannier, Stéphanie, Wicart, Philippe, Hadj-Rabia, Smail, Radomska, Katarzyna J, Zarhrate, Mohammed, Ménager, Mickael, Vidaud, Dominique, Topilko, Piotr, Parfait, Béatrice, Colnot, Céline
Published in Science translational medicine (26.06.2024)
Published in Science translational medicine (26.06.2024)
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Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells
Varin, Jennifer, Poulain, Laury, Hivelin, Mikael, Nusbaum, Patrick, Hubas, Arnaud, Laurendeau, Ingrid, Lantieri, Laurent, Wolkenstein, Pierre, Vidaud, Michel, Pasmant, Eric, Chapuis, Nicolas, Parfait, Béatrice
Published in Oncotarget (14.06.2016)
Published in Oncotarget (14.06.2016)
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Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1
Sabbagh, Audrey, Pasmant, Eric, Laurendeau, Ingrid, Parfait, Béatrice, Barbarot, Sébastien, Guillot, Bernard, Combemale, Patrick, Ferkal, Salah, Vidaud, Michel, Aubourg, Patrick, Vidaud, Dominique, Wolkenstein, Pierre
Published in Human molecular genetics (01.08.2009)
Published in Human molecular genetics (01.08.2009)
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Neutralizing Antibody Levels as a Correlate of Protection Against SARS‐CoV‐2 Infection: A Modeling Analysis
Lingas, Guillaume, Planas, Delphine, Péré, Hélène, Porrot, Françoise, Guivel‐Benhassine, Florence, Staropoli, Isabelle, Duffy, Darragh, Chapuis, Nicolas, Gobeaux, Camille, Veyer, David, Delaugerre, Constance, Le Goff, Jérôme, Getten, Prunelle, Hadjadj, Jérôme, Bellino, Adèle, Parfait, Béatrice, Treluyer, Jean‐Marc, Schwartz, Olivier, Guedj, Jérémie, Kernéis, Solen, Terrier, Benjamin
Published in Clinical pharmacology and therapeutics (01.01.2024)
Published in Clinical pharmacology and therapeutics (01.01.2024)
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A French cohort for assessing COVID-19 vaccine responses in specific populations
Loubet, Paul, Wittkop, Linda, Tartour, Eric, Parfait, Beatrice, Barrou, Benoit, Blay, Jean-Yves, Hourmant, Maryvonne, Lachâtre, Marie, Laplaud, David-Axel, Laville, Martine, Laviolle, Bruno, Lelievre, Jean-Daniel, Morel, Jacques, Nguyen, Stéphanie, Spano, Jean-Philippe, Terrier, Benjamin, Thiebaut, Anne, Viallard, Jean-Francois, Vrtovsnik, François, de Lamballerie, Xavier, Launay, Odile
Published in Nature Medicine (01.08.2021)
Published in Nature Medicine (01.08.2021)
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Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions: Confirmation of the Predominant Maternal Origin of Type-1 Deletions
Pacot, Laurence, Ye, Manuela, Nectoux, Juliette, Laurendeau, Ingrid, Briand-Suleau, Audrey, Coustier, Audrey, Maillard, Théodora, Barbance, Cécile, Orhant, Lucie, Vaucouleur, Nicolas, Blanché, Hélène, Parfait, Béatrice, Wolkenstein, Pierre, Vidaud, Michel, Vidaud, Dominique, Pasmant, Eric
Published in The Journal of molecular diagnostics : JMD (01.02.2024)
Published in The Journal of molecular diagnostics : JMD (01.02.2024)
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NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype
Pasmant, Eric, Sabbagh, Audrey, Spurlock, Gill, Laurendeau, Ingrid, Grillo, Elisa, Hamel, Marie-José, Martin, Ludovic, Barbarot, Sébastien, Leheup, Bruno, Rodriguez, Diana, Lacombe, Didier, Dollfus, Hélène, Pasquier, Laurent, Isidor, Bertrand, Ferkal, Salah, Soulier, Jean, Sanson, Marc, Dieux-Coeslier, Anne, Bièche, Ivan, Parfait, Béatrice, Vidaud, Michel, Wolkenstein, Pierre, Upadhyaya, Meena, Vidaud, Dominique
Published in Human mutation (01.06.2010)
Published in Human mutation (01.06.2010)
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Natural history of peripheral nerve schwannomas
El Sayed, Laila, Masmejean, Emmanuel H., Parfait, Beatrice, Kalamarides, Michel, Biau, David, Peyre, Matthieu
Published in Acta neurochirurgica (01.08.2020)
Published in Acta neurochirurgica (01.08.2020)
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A comparison of Sars-Cov-2 vaccine platforms: the CoviCompare project
Molino, Diana, Durier, Christine, Radenne, Anne, Desaint, Corinne, Ropers, Jacques, Courcier, Soizic, Vieillard, Louis Victorien, Rekacewicz, Claire, Parfait, Beatrice, Appay, Victor, Batteux, Frédéric, Barillot, Emmanuel, Cogné, Michel, Combadière, Béhazine, Eberhardt, Christiane S., Gorochov, Guy, Hupé, Philippe, Ninove, Laetitia, Paul, Stéphane, Pellegrin, Isabelle, van der Werf, Sylvie, Lefebvre, Maeva, Botelho-Nevers, Elisabeth, Ortega-Perez, Inmaculada, Jaspard, Marie, Sow, Samba, Lelièvre, Jean Daniel, de Lamballerie, Xavier, Kieny, Marie Paule, Tartour, Eric, Launay, Odile
Published in Nature Medicine (01.05.2022)
Published in Nature Medicine (01.05.2022)
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Segmental schwannomatosis: characteristics in 12 patients
Alaidarous, Abdulqader, Parfait, Beatrice, Ferkal, Salah, Cohen, Joëlle, Wolkenstein, Pierre, Mazereeuw-Hautier, Juliette
Published in Orphanet journal of rare diseases (22.08.2019)
Published in Orphanet journal of rare diseases (22.08.2019)
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Three new cases of ataxia‐telangiectasia‐like disorder: No impairment of the ATM pathway, but S‐phase checkpoint defect
Fiévet, Alice, Bellanger, Dorine, Valence, Stéphanie, Mobuchon, Lenha, Afenjar, Alexandra, Giuliano, Fabienne, Dubois d'Enghien, Catherine, Parfait, Béatrice, Pedespan, Jean‐Michel, Auger, Nathalie, Rieunier, Guillaume, Collet, Agnès, Burglen, Lydie, Stoppa‐Lyonnet, Dominique, Stern, Marc‐Henri
Published in Human mutation (01.10.2019)
Published in Human mutation (01.10.2019)
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DNA repair functional analyses of NBN hypomorphic variants associated with NBN‐related infertility
Fiévet, Alice, Bellanger, Dorine, Zahed, Laila, Burglen, Lydie, Derrien, Anne‐Céline, Dubois d'Enghien, Catherine, Lespinasse, James, Parfait, Béatrice, Pedespan, Jean‐Michel, Rieunier, Guillaume, Stoppa‐Lyonnet, Dominique, Stern, Marc‐Henri
Published in Human mutation (01.03.2020)
Published in Human mutation (01.03.2020)
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Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort study
Thevenon, Julien, Bourredjem, Abderrahmane, Faivre, Laurence, Cardot-Bauters, Catherine, Calender, Alain, Murat, Arnaud, Giraud, Sophie, Niccoli, Patricia, Odou, Marie-Françoise, Borson-Chazot, Françoise, Barlier, Anne, Lombard-Bohas, Catherine, Clauser, Eric, Tabarin, Antoine, Parfait, Béatrice, Chabre, Olivier, Castermans, Emilie, Beckers, Albert, Ruszniewski, Philippe, Le Bras, Morgane, Delemer, Brigitte, Bouchard, Philippe, Guilhem, Isabelle, Rohmer, Vincent, Goichot, Bernard, Caron, Philippe, Baudin, Eric, Chanson, Philippe, Groussin, Lionel, Du Boullay, Hélène, Weryha, Georges, Lecomte, Pierre, Penfornis, Alfred, Bihan, Hélène, Archambeaud, Françoise, Kerlan, Véronique, Duron, Françoise, Kuhn, Jean-Marc, Vergès, Bruno, Rodier, Michel, Renard, Michel, Sadoul, Jean-Louis, Binquet, Christine, Goudet, Pierre
Published in Human molecular genetics (15.05.2013)
Published in Human molecular genetics (15.05.2013)
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Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome
Nava, Caroline, Hanna, Nadine, Michot, Caroline, Pereira, Sabrina, Pouvreau, Nathalie, Niihori, Tetsuya, Aoki, Yoko, Matsubara, Yoichi, Arveiler, Benoit, Lacombe, Didier, Pasmant, Eric, Parfait, Béatrice, Baumann, Clarisse, Héron, Delphine, Sigaudy, Sabine, Toutain, Annick, Rio, Marlène, Goldenberg, Alice, Leheup, Bruno, Verloes, Alain, Cavé, Hélène
Published in Journal of medical genetics (01.12.2007)
Published in Journal of medical genetics (01.12.2007)
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