Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome

por Lindhurst, Marjorie J., Yourick, Miranda R., Yu, Yi, Savage, Ronald E., Ferrari, Dora, Biesecker, Leslie G.
Publicado 2015

AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome

por Lindhurst, Marjorie J., Wang, Ji-an, Bloomhardt, Hadley M., Witkowski, Alison M., Singh, Larry N., Bick, David P., Gambello, Michael J., Powell, Cynthia M., Lee, Chyi-Chia Richard, Darling, Thomas N., Biesecker, Leslie G.
Publicado 2013

Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum

por Koutlas, Ioannis G., Anbinder, Ana-Lia, Alshagroud, Rana, Rodrigues Cavalcante, Ana Sueli, Al Kindi, Mohammed, Crenshaw, Molly M., Sapp, Julie C., Kondolf, Hannah, Lindhurst, Marjorie J., Dudley, Jeffrey N., Johnston, Jennifer J., Ryan, Elyse, Rafferty, Keith, Ganguly, Arupa, Biesecker, Leslie G.
Publicado 2021

Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum

por Koutlas, Ioannis G., Anbinder, Ana-Lia, Alshagroud, Rana, Rodrigues Cavalcante, Ana Sueli, Al Kindi, Mohammed, Crenshaw, Molly M., Sapp, Julie C., Kondolf, Hannah, Lindhurst, Marjorie J., Dudley, Jeffrey N., Johnston, Jennifer J., Ryan, Elyse, Rafferty, Keith, Ganguly, Arupa, Biesecker, Leslie G.
Publicado 2020

Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth

por Cottrell, Catherine E., Bender, Nicole R., Zimmermann, Michael T., Heusel, Jonathan W., Corliss, Meagan, Evenson, Michael J., Magrini, Vincent, Corsmeier, Donald J., Avenarius, Matthew, Dudley, Jeffrey N., Johnston, Jennifer J., Lindhurst, Marjorie J., Vigh-Conrad, Katinka, Davies, Olivia M. T., Coughlin, Carrie C., Frieden, Ilona J., Tollefson, Megha, Zaenglein, Andrea L., Ciliberto, Heather, Tosi, Laura L., Semple, Robert K., Biesecker, Leslie G., Drolet, Beth A.
Publicado 2021

Clinical Delineation and Natural History of the PIK3CA-Related Overgrowth Spectrum**

por Keppler-Noreuil, Kim M, Sapp, Julie C, Lindhurst, Marjorie J, Parker, Victoria ER, Blumhorst, Cathy, Darling, Thomas, Tosi, Laura L, Huson, Susan M, Whitehouse, Richard W, Jakkula, Eveliina, Grant, Ian, Balasubramanian, Meena, Chandler, Kate E, Fraser, Jamie L, Gucev, Zoran, Crow, Yanick J, Brennan, Leslie Manace, Clark, Robin, Sellars, Elizabeth A, Pena, Loren DM, Krishnamurty, Vidya, Shuen, Andrew, Braverman, Nancy, Cunningham, Michael L, Sutton, V Reid, Tasic, Velibor, Graham, John M, Geer, Joseph, Henderson, Alex, Semple, Robert K, Biesecker, Leslie G
Publicado 2014

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

por Parker, Victoria E. R., Keppler-Noreuil, Kim M., Faivre, Laurence, Luu, Maxime, Oden, Neal L., De Silva, Leena, Sapp, Julie C., Andrews, Katrina, Bardou, Marc, Chen, Kong Y., Darling, Thomas N., Gautier, Elodie, Goldspiel, Barry R., Hadj-Rabia, Smail, Harris, Julie, Kounidas, Georgios, Kumar, Parag, Lindhurst, Marjorie J., Loffroy, Romaric, Martin, Ludovic, Phan, Alice, Rother, Kristina I., Widemann, Brigitte C., Wolters, Pamela L., Coubes, Christine, Pinson, Lucile, Willems, Marjolaine, Vincent-Delorme, Catherine, Vabres, Pierre, Semple, Robert K., Biesecker, Leslie G.
Publicado 2018

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