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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Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics
Pacot, Laurence, Vidaud, Dominique, Ye, Manuela, Chansavang, Albain, Coustier, Audrey, Maillard, Theodora, Barbance, Cécile, Laurendeau, Ingrid, Hébrard, Bérénice, Lunati-Rozie, Ariane, Funalot, Benoît, Wolkenstein, Pierre, Vidaud, Michel, Goldenberg, Alice, Morice-Picard, Fanny, Hadjadj, Djihad, Parfait, Béatrice, Pasmant, Eric
Published in Npj genomic medicine (08.09.2024)
Published in Npj genomic medicine (08.09.2024)
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Journal Article
Severe Phenotype in Patients with Large Deletions of NF1
Pacot, Laurence, Vidaud, Dominique, Sabbagh, Audrey, Laurendeau, Ingrid, Briand-Suleau, Audrey, Coustier, Audrey, Maillard, Théodora, Barbance, Cécile, Morice-Picard, Fanny, Sigaudy, Sabine, Glazunova, Olga O, Damaj, Lena, Layet, Valérie, Quelin, Chloé, Gilbert-Dussardier, Brigitte, Audic, Frédérique, Dollfus, Hélène, Guerrot, Anne-Marie, Lespinasse, James, Julia, Sophie, Vantyghem, Marie-Christine, Drouard, Magali, Lackmy, Marilyn, Leheup, Bruno, Alembik, Yves, Lemaire, Alexia, Nitschké, Patrick, Petit, Florence, Dieux Coeslier, Anne, Mutez, Eugénie, Taieb, Alain, Fradin, Mélanie, Capri, Yline, Nasser, Hala, Ruaud, Lyse, Dauriat, Benjamin, Bourthoumieu, Sylvie, Geneviève, David, Audebert-Bellanger, Séverine, Nizon, Mathilde, Stoeva, Radka, Hickman, Geoffroy, Nicolas, Gaël, Mazereeuw-Hautier, Juliette, Jannic, Arnaud, Ferkal, Salah, Parfait, Béatrice, Vidaud, Michel, Members Of The Nf France Network, Wolkenstein, Pierre, Pasmant, Eric
Published in Cancers (13.06.2021)
Published in Cancers (13.06.2021)
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Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study
Riant, Florence, Roos, Caroline, Roubertie, Agathe, Barbance, Cécile, Hadjadj, Jessica, Auvin, Stéphane, Baille, Guillaume, Beltramone, Marion, Boulanger, Cécile, Cahn, Alice, Cata, Florina, Cheuret, Emmanuel, Cuvellier, Jean-Christophe, Defo, Antoine, Demarquay, Genevieve, Donnet, Anne, Gaillard, Nicolas, Massardier, Evelyne, Guy, Nathalie, Lamoureux, Sylvie, Le Moigno, Laurence, Lucas, Christian, Ratiu, Diana, Redon, Sylvain, Rey, Caroline, Thauvin, Christel, Viallet, François, Tournier-Lasserve, Elisabeth, Ducros, Anne
Published in Neurology (04.01.2022)
Published in Neurology (04.01.2022)
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Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1
Pacot, Laurence, Pelletier, Valerie, Chansavang, Albain, Briand-Suleau, Audrey, Burin des Roziers, Cyril, Coustier, Audrey, Maillard, Theodora, Vaucouleur, Nicolas, Orhant, Lucie, Barbance, Cécile, Lermine, Alban, Hamzaoui, Nadim, Hadjadj, Djihad, Laurendeau, Ingrid, El Khattabi, Laïla, Nectoux, Juliette, Vidaud, Michel, Parfait, Béatrice, Dollfus, Hélène, Pasmant, Eric, Vidaud, Dominique
Published in Human genetics (2023)
Published in Human genetics (2023)
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Journal Article
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus 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, Castellanos, Elisabeth, Blok, Marinus J., Brems, Hilde, Koczkowska, Magdalena, Pasmant, Eric, Wimmer, Katharina
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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Journal Article
PRRT2 mutations cause hemiplegic migraine
Riant, Florence, Roze, Emmanuel, Barbance, Cecile, Méneret, Aurélie, Guyant-Maréchal, Lucie, Lucas, Christian, Sabouraud, Pascal, Trébuchon, Agnes, Depienne, Christel, Tournier-Lasserve, Elisabeth
Published in Neurology (20.11.2012)
Published in Neurology (20.11.2012)
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