Next-Generation Sequencing of Nevus Spilus–Type Congenital Melanocytic Nevus: Exquisite Genotype–Phenotype Correlation in Mosaic RASopathies

por Kinsler, Veronica A, Krengel, Sven, Riviere, Jean-Baptiste, Waelchli, Regula, Chapusot, Carolina, Al-Olabi, Lara, Faivre, Laurence, Haenssle, Holger A, Weibel, Lisa, Jeudy, Géraldine, Vabres, Pierre
Publicado 2014

Paternally Expressed, Imprinted Insulin-Like Growth Factor-2 in Chorionic Villi Correlates Significantly with Birth Weight

por Demetriou, Charalambos, Abu-Amero, Sayeda, Thomas, Anna C., Ishida, Miho, Aggarwal, Reena, Al-Olabi, Lara, Leon, Lydia J., Stafford, Jaime L., Syngelaki, Argyro, Peebles, Donald, Nicolaides, Kypros H., Regan, Lesley, Stanier, Philip, Moore, Gudrun E.
Publicado 2014

Acute Inhibition of MEK Suppresses Congenital Melanocytic Nevus Syndrome in a Murine Model Driven by Activated NRAS and Wnt Signaling

por Pawlikowski, Jeffrey S, Brock, Claire, Chen, Sheau-Chiann, Al-Olabi, Lara, Nixon, Colin, McGregor, Fiona, Paine, Simon, Chanudet, Estelle, Lambie, Wendy, Holmes, William M, Mullin, James M, Richmond, Ann, Wu, Hong, Blyth, Karen, King, Ayala, Kinsler, Veronica A, Adams, Peter D
Publicado 2015

The role and interaction of imprinted genes in human fetal growth

por Moore, Gudrun E., Ishida, Miho, Demetriou, Charalambos, Al-Olabi, Lara, Leon, Lydia J., Thomas, Anna C., Abu-Amero, Sayeda, Frost, Jennifer M., Stafford, Jaime L., Chaoqun, Yao, Duncan, Andrew J., Baigel, Rachel, Brimioulle, Marina, Iglesias-Platas, Isabel, Apostolidou, Sophia, Aggarwal, Reena, Whittaker, John C., Syngelaki, Argyro, Nicolaides, Kypros H., Regan, Lesley, Monk, David, Stanier, Philip
Publicado 2015

Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis

por Thomas, Anna C., Zeng, Zhiqiang, Rivière, Jean-Baptiste, O’Shaughnessy, Ryan, Al-Olabi, Lara, St.-Onge, Judith, Atherton, David J., Aubert, Hélène, Bagazgoitia, Lorea, Barbarot, Sébastien, Bourrat, Emmanuelle, Chiaverini, Christine, Chong, W. Kling, Duffourd, Yannis, Glover, Mary, Groesser, Leopold, Hadj-Rabia, Smail, Hamm, Henning, Happle, Rudolf, Mushtaq, Imran, Lacour, Jean-Philippe, Waelchli, Regula, Wobser, Marion, Vabres, Pierre, Patton, E. Elizabeth, Kinsler, Veronica A.
Publicado 2016

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

por Al-Olabi, Lara, Polubothu, Satyamaanasa, Dowsett, Katherine, Andrews, Katrina A., Stadnik, Paulina, Joseph, Agnel P., Knox, Rachel, Pittman, Alan, Clark, Graeme, Baird, William, Bulstrode, Neil, Glover, Mary, Gordon, Kristiana, Hargrave, Darren, Huson, Susan M., Jacques, Thomas S., James, Gregory, Kondolf, Hannah, Kangesu, Loshan, Keppler-Noreuil, Kim M., Khan, Amjad, Lindhurst, Marjorie J., Lipson, Mark, Mansour, Sahar, O’Hara, Justine, Mahon, Caroline, Mosica, Anda, Moss, Celia, Murthy, Aditi, Ong, Juling, Parker, Victoria E., Rivière, Jean-Baptiste, Sapp, Julie C., Sebire, Neil J., Shah, Rahul, Sivakumar, Branavan, Thomas, Anna, Virasami, Alex, Waelchli, Regula, Zeng, Zhiqiang, Biesecker, Leslie G., Barnacle, Alex, Topf, Maya, Semple, Robert K., Patton, E. Elizabeth, Kinsler, Veronica A.
Publicado 2018

Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype

por Polubothu, Satyamaanasa, Zecchin, Davide, Al-Olabi, Lara, Lionarons, Daniël A., Harland, Mark, Horswell, Stuart, Thomas, Anna C., Hunt, Lilian, Wlodarchak, Nathan, Aguilera, Paula, Brand, Sarah, Bryant, Dale, Carrera, Cristina, Chen, Hui, Elgar, Greg, Harwood, Catherine A., Howell, Michael, Larue, Lionel, Loughlin, Sam, MacDonald, Jeff, Malvehy, Josep, Barberan, Sara Martin, da Silva, Vanessa Martins, Molina, Miriam, Morrogh, Deborah, Moulding, Dale, Nsengimana, Jérémie, Pittman, Alan, Puig-Butillé, Joan-Anton, Parmar, Kiran, Sebire, Neil J., Scherer, Stephen, Stadnik, Paulina, Stanier, Philip, Tell, Gemma, Waelchli, Regula, Zarrei, Mehdi, Puig, Susana, Bataille, Véronique, Xing, Yongna, Healy, Eugene, Moore, Gudrun E., Di, Wei-Li, Newton-Bishop, Julia, Downward, Julian, Kinsler, Veronica A.
Publicado 2021