Becker’s Naevus Syndrome with Breast Aplasia Due to Postzygotic Mutation of ACTB

por RAMSPACHER, Jeanne, CARMIGNAC, Virginie, VABRES, Pierre, MAZEREEUW-HAUTIER, Juliette
Publicado 2022

Distinct Roles for Laminin Globular Domains in Laminin α1 Chain Mediated Rescue of Murine Laminin α2 Chain Deficiency

por Gawlik, Kinga I., Åkerlund, Mikael, Carmignac, Virginie, Elamaa, Harri, Durbeej, Madeleine
Publicado 2010

The placenta: phenotypic and epigenetic modifications induced by Assisted Reproductive Technologies throughout pregnancy

por Choux, Cécile, Carmignac, Virginie, Bruno, Céline, Sagot, Paul, Vaiman, Daniel, Fauque, Patricia
Publicado 2015

Increased Neointimal Thickening in Dystrophin-Deficient mdx Mice

por Rauch, Uwe, Shami, Annelie, Zhang, Feng, Carmignac, Virginie, Durbeej, Madeleine, Hultgårdh-Nilsson, Anna
Publicado 2012

Mutations in SKI in Shprintzen–Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization

por Gori, Ilaria, George, Roger, Purkiss, Andrew G, Strohbuecker, Stephanie, Randall, Rebecca A, Ogrodowicz, Roksana, Carmignac, Virginie, Faivre, Laurence, Joshi, Dhira, Kjær, Svend, Hill, Caroline S
Publicado 2021

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

por Vabres, Pierre, Sorlin, Arthur, Kholmanskikh, Stanislav S., Demeer, Bénédicte, St-Onge, Judith, Duffourd, Yannis, Kuentz, Paul, Courcet, Jean-Benoît, Carmignac, Virginie, Garret, Philippine, Bessis, Didier, Boute, Odile, Bron, Alain, Captier, Guillaume, Carmi, Esther, Devauchelle, Bernard, Geneviève, David, Gondry-Jouet, Catherine, Guibaud, Laurent, Lafon, Arnaud, Mathieu-Dramard, Michèle, Thevenon, Julien, Dobyns, William B., Bernard, Geneviève, Polubothu, Satyamaanasa, Faravelli, Francesca, Kinsler, Veronica A., Thauvin, Christel, Faivre, Laurence, Ross, M. Elizabeth, Rivière, Jean-Baptiste
Publicado 2019

PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma

por Polubothu, Satyamaanasa, Bender, Nicole, Muthiah, Siobhan, Zecchin, Davide, Demetriou, Charalambos, Martin, Sara Barberan, Malhotra, Sony, Travnickova, Jana, Zeng, Zhiqiang, Böhm, Markus, Barbarot, Sebastien, Cottrell, Catherine, Davies, Olivia, Baselga, Eulalia, Burrows, Nigel P., Carmignac, Virginie, Diaz, Joey Santiago, Fink, Christine, Haenssle, Holger A., Happle, Rudolf, Harland, Mark, Majerowski, Jacquelyn, Vabres, Pierre, Vincent, Marie, Newton-Bishop, Julia A., Bishop, D. Tim, Siegel, Dawn, Patton, E. Elizabeth, Topf, Maya, Rajan, Neil, Drolet, Beth, Kinsler, Veronica A.
Publicado 2023

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

por Carmignac, Virginie, Mignot, Cyril, Blanchard, Emmanuelle, Kuentz, Paul, Aubriot-Lorton, Marie-Hélène, Parker, Victoria E. R., Sorlin, Arthur, Fraitag, Sylvie, Courcet, Jean-Benoît, Duffourd, Yannis, Rodriguez, Diana, Knox, Rachel G., Polubothu, Satyamaanasa, Boland, Anne, Olaso, Robert, Delepine, Marc, Darmency, Véronique, Riachi, Melissa, Quelin, Chloé, Rollier, Paul, Goujon, Louise, Grotto, Sarah, Capri, Yline, Jacquemont, Marie-Line, Odent, Sylvie, Amram, Daniel, Chevarin, Martin, Vincent-Delorme, Catherine, Catteau, Benoît, Guibaud, Laurent, Arzimanoglou, Alexis, Keddar, Malika, Sarret, Catherine, Callier, Patrick, Bessis, Didier, Geneviève, David, Deleuze, Jean-François, Thauvin, Christel, Semple, Robert K., Philippe, Christophe, Rivière, Jean-Baptiste, Kinsler, Veronica A., Faivre, Laurence, Vabres, Pierre
Publicado 2021