Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review
Pacot, Laurence, Girish, Milind, Knight, Samantha, Spurlock, Gill, Varghese, Vinod, Ye, Manuela, Thomas, Nick, Pasmant, Eric, Upadhyaya, Meena
Published in BMC medical genomics (06.03.2024)
Published in BMC medical genomics (06.03.2024)
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Journal Article
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
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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Journal Article
Identification of potential common genetic modifiers of neurofibromas: a genome wide association study in 1,333 neurofibromatosis type 1 patients
Pacot, Laurence, Sabbagh, Audrey, Sohier, Pierre, Hadjadj, Djihad, Ye, Manuela, Boland-Auge, Anne, Bacq-Daian, Delphine, Laurendeau, Ingrid, Briand-Suleau, Audrey, Deleuze, Jean-François, Margueron, Raphaël, Vidaud, Michel, Ferkal, Salah, Parfait, Béatrice, Vidaud, Dominique, The, N. F. France Network Members Of, Pasmant, Eric, Wolkenstein, Pierre
Published in British journal of dermatology (1951) (2023)
Published in British journal of dermatology (1951) (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