Search Results - "Pacault, Mathilde"

2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency

Brakta, Charlyne, Tabet, Anne-Claude, Puel, Mathilde^Aff1, Pacault, Mathilde, Stolzenberg, Marie-Claude^{Aff3, Aff4}, Goudet, Claire, Merger, Marguerite, Reumaux, Héloïse, Lambert, Nathalie, Alioua, Najiba, Malan, Valérie^{Aff4, Aff8}, Hanein, Sylvain, Dupin-Deguine, Delphine^{Aff10, Aff11}, Treiner, Emmanuel^{Aff12, Aff13, Aff14}, Lefèvre, Guillaume^{Aff15, Aff16}, Farhat, Méryem-Maud, Luca, Luminita Elena, Hureaux, Marguerite^{Aff18, Aff19}, Li, Hailun^{Aff4, Aff20}, Chelloug, Nora, Dehak, Rabha, Boussion, Simon, Ouachée-Chardin, Marie, Schleinitz, Nicolas, Abou Chahla, Wadih, Barlogis, Vincent, Vély, Frédéric^{Aff26, Aff27}, Oksenhendler, Eric, Quartier, Pierre^{Aff29, Aff30}, Pasquet, Marlène, Suarez, Felipe^{Aff30, Aff32, Aff35}, Bustamante, Jacinta^{Aff1, Aff20, Aff30, Aff33}, Neven, Bénédicte^{Aff3, Aff4, Aff29, Aff30}, Picard, Capucine^{Aff1, Aff30, Aff34, Aff35}, Rieux-Laucat, Frédéric^{Aff3, Aff4}, Lévy, Jonathan^Aff2, Rosain, Jérémie^{Aff1, Aff20, Aff30, Aff33, IDs10875024018315_cor1}

Vers une généralisation du diagnostic prénatal non-invasif des maladies monogéniques ? État des lieux et perspectives

Verebi, Camille, Gravrand, Victor, Pacault, Mathilde, Audrezet, Marie-Pierre, Couque, Nathalie, Vincent, Marie-Claire, Leturcq, France, Tsatsaris, Vassilis, Bienvenu, Thierry, Nectoux, Juliette

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Küry, Sébastien, Besnard, Thomas, Ebstein, Frédéric, Khan, Tahir N, Gambin, Tomasz, Douglas, Jessica, Bacino, Carlos A, Craigen, William J, Sanders, Stephan J, Lehmann, Andrea, Latypova, Xénia, Khan, Kamal, Pacault, Mathilde, Sacharow, Stephanie, Glaser, Kimberly, Bieth, Eric, Perrin-Sabourin, Laurence, Jacquemont, Marie-Line, Cho, Megan T, Roeder, Elizabeth, Denommé-Pichon, Anne-Sophie, Monaghan, Kristin G, Yuan, Bo, Xia, Fan, Simon, Sylvain, Bonneau, Dominique, Parent, Philippe, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Toutain, Annick, Pasquier, Laurent, Barbouth, Deborah, Shaw, Chad A, Patel, Ankita, Smith, Janice L, Bi, Weimin, Schmitt, Sébastien, Deb, Wallid, Nizon, Mathilde, Mercier, Sandra, Vincent, Marie, Rooryck, Caroline, Malan, Valérie, Briceño, Ignacio, Gómez, Alberto, Nugent, Kimberly M, Gibson, James B, Cogné, Benjamin, Lupski, James R, Stessman, Holly AF, Eichler, Evan E, Retterer, Kyle, Yang, Yaping, Redon, Richard, Katsanis, Nicholas, Rosenfeld, Jill A, Kloetzel, Peter-Michael, Golzio, Christelle, Bézieau, Stéphane, Stankiewicz, Paweł, Isidor, Bertrand

application/pdf

A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability

Pacault, Mathilde, Nizon, Mathilde, Pichon, Olivier, Vincent, Marie, Le Caignec, Cédric, Isidor, Bertrand

Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation.

Pacault, Mathilde^1,2 (AUTHOR), Verebi, Camille² (AUTHOR), Champion, Magali³ (AUTHOR), Orhant, Lucie² (AUTHOR), Perrier, Alexandre² (AUTHOR), Girodon, Emmanuelle² (AUTHOR), Leturcq, France² (AUTHOR), Vidaud, Dominique² (AUTHOR), Férec, Claude¹ (AUTHOR), Bienvenu, Thierry² (AUTHOR), Daveau, Romain⁴ (AUTHOR), Nectoux, Juliette² (AUTHOR) juliette.nectoux@aphp.fr

This result is not displayed to guests.
Login for full access.

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Lenglet, Marion ^*, Robriquet, Florence ^*, Schwarz, Klaus, Camps, Carme, Couturier, Anne, Hoogewijs, David, Buffet, Alexandre, Knight, Samantha J.L., Gad, Sophie, Couvé, Sophie, Chesnel, Franck, Pacault, Mathilde, Lindenbaum, Pierre, Job, Sylvie, Dumont, Solenne, Besnard, Thomas, Cornec, Marine, Dreau, Helene, Pentony, Melissa, Kvikstad, Erika, Deveaux, Sophie, Burnichon, Nelly, Ferlicot, Sophie, Vilaine, Mathias, Mazzella, Jean-Michaël, Airaud, Fabrice, Garrec, Céline, Heidet, Laurence, Irtan, Sabine, Mantadakis, Elpis, Bouchireb, Karim, Debatin, Klaus-Michael, Redon, Richard, Bezieau, Stéphane, Bressac-de Paillerets, Brigitte, Teh, Bin Tean, Girodon, François, Randi, Maria-Luigia, Putti, Maria Caterina, Bours, Vincent, Van Wijk, Richard, Göthert, Joachim R., Kattamis, Antonis, Janin, Nicolas, Bento, Celeste, Taylor, Jenny C., Arlot-Bonnemains, Yannick, Richard, Stéphane, Gimenez-Roqueplo, Anne-Paule, Cario, Holger, Gardie, Betty

Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR

Gruber, Aurélia^{j_cclm-2017-0689_aff_a_w2aab3b7c52b1b6b1aab1b5aAa}, Pacault, Mathilde^{j_cclm-2017-0689_aff_a_w2aab3b7c52b1b6b1aab1b5aAa}, El Khattabi, Laila Allach^{j_cclm-2017-0689_aff_002_w2aab3b7c52b1b6b1aab1b4c18Aa}, Vaucouleur, Nicolas^{j_cclm-2017-0689_aff_001_w2aab3b7c52b1b6b1aab1b4c17Aa}, Orhant, Lucie^{j_cclm-2017-0689_aff_001_w2aab3b7c52b1b6b1aab1b4c17Aa}, Bienvenu, Thierry^{j_cclm-2017-0689_aff_001_w2aab3b7c52b1b6b1aab1b4c17Aa}, Girodon, Emmanuelle^{j_cclm-2017-0689_aff_001_w2aab3b7c52b1b6b1aab1b4c17Aa}, Vidaud, Dominique^{j_cclm-2017-0689_aff_001_w2aab3b7c52b1b6b1aab1b4c17Aa}, Leturcq, France^{j_cclm-2017-0689_aff_001_w2aab3b7c52b1b6b1aab1b4c17Aa}, Costa, Catherine^{j_cclm-2017-0689_aff_001_w2aab3b7c52b1b6b1aab1b4c17Aa}, Letourneur, Franck^{j_cclm-2017-0689_aff_003_w2aab3b7c52b1b6b1aab1b4c19Aa}, Anselem, Olivia^{j_cclm-2017-0689_aff_004_w2aab3b7c52b1b6b1aab1b4c20Aa}, Tsatsaris, Vassilis^{j_cclm-2017-0689_aff_004_w2aab3b7c52b1b6b1aab1b4c20Aa}, Goffinet, François^{j_cclm-2017-0689_aff_004_w2aab3b7c52b1b6b1aab1b4c20Aa}, Viot, Géraldine^{j_cclm-2017-0689_aff_004_w2aab3b7c52b1b6b1aab1b4c20Aa}, Vidaud, Michel^{j_cclm-2017-0689_aff_001_w2aab3b7c52b1b6b1aab1b4c17Aa}, Nectoux, Juliette^{j_cclm-2017-0689_aff_005_w2aab3b7c52b1b6b1aab1b4c21Aa}

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome

Pacault, Mathilde, Vincent, Marie^Aff1, Besnard, Thomas, Kannengiesser, Caroline, Bénéteau, Claire, Barbarot, Sébastien, Latypova, Xénia, Belabbas, Khaldia, Lamazière, Antonin, Winer, Norbert, Joubert, Madeleine, Bézieau, Stéphane, Isidor, Bertrand, Mercier, Sandra, Nizon, Mathilde, Leclerc-Mercier, Stéphanie, Hadj-Rabia, Smail, Dufernez, Fabienne

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

Cysteinyl leukotriene signaling through perinuclear CysLT1 receptors on vascular smooth muscle cells transduces nuclear calcium signaling and alterations of gene expression

Eaton, Alison, Nagy, Edit, Pacault, Mathilde, Fauconnier, Jérémy, Bäck, Magnus

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.