Genetic Forms of Severe Insulin Resistance: What Endocrinologists Should Know

Por Parker, Victoria E. R., Semple, Robert K.
Publicado no Eur J Endocrinol (2013)

Somatic Overgrowth Disorders of the PI3K/AKT/mTOR Pathway & Therapeutic Strategies

Por Keppler-Noreuil, Kim M., Parker, Victoria E.R., Darling, Thomas N., Martinez-Agosto, Julian A.
Publicado no Am J Med Genet C Semin Med Genet (2016)

SEVERE INSULIN RESISTANCE AND HYPERTRIGLYCERIDEMIA AFTER CHILDHOOD TOTAL BODY IRRADIATION

Por Mayson, Sarah E., Parker, Victoria E. R., Schutta, Mark H., Semple, Robert K., Rickels, Michael R.
Publicado no Endocr Pract (2013)

PIK3CA-Related Overgrowth Spectrum (PROS): Diagnostic and Testing Eligibility Criteria, Differential Diagnosis, and Evaluation

Por Keppler-Noreuil, Kim M., Rios, Jonathan J., Parker, Victoria E.R., Semple, Robert K., Lindhurst, Marjorie J., Sapp, Julie C., Alomari, Ahmad, Ezaki, Marybeth, Dobyns, William, Biesecker, Leslie G.
Publicado no Am J Med Genet A (2014)

Nephroblastomatosis or Wilms Tumor in a Fourth Patient With a Somatic PIK3CA Mutation

Por Gripp, Karen W., Baker, Laura, Kandula, Vinay, Conard, Katrina, Scavina, Mena, Napoli, Joseph A., Griffin, Gregory C., Thacker, Mihir, Knox, Rachel G., Clark, Graeme R., Parker, Victoria E. R., Semple, Robert, Mirzaa, Ghayda, Keppler-Noreuil, Kim M.
Publicado no Am J Med Genet A (2016)

Oncogenic PIK3CA induces centrosome amplification and tolerance to genome doubling

Por Berenjeno, Inma M., Piñeiro, Roberto, Castillo, Sandra D., Pearce, Wayne, McGranahan, Nicholas, Dewhurst, Sally M., Meniel, Valerie, Birkbak, Nicolai J., Lau, Evelyn, Sansregret, Laurent, Morelli, Daniele, Kanu, Nnennaya, Srinivas, Shankar, Graupera, Mariona, Parker, Victoria E. R., Montgomery, Karen G., Moniz, Larissa S., Scudamore, Cheryl L., Phillips, Wayne A., Semple, Robert K., Clarke, Alan, Swanton, Charles, Vanhaesebroeck, Bart
Publicado no Nat Commun (2017)

Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase

Por Leiter, Sarah M, Parker, Victoria E R, Welters, Alena, Knox, Rachel, Rocha, Nuno, Clark, Graeme, Payne, Felicity, Lotta, Luca, Harris, Julie, Guerrero-Fernández, Julio, González-Casado, Isabel, García-Miñaur, Sixto, Gordo, Gema, Wareham, Nick, Martínez-Glez, Víctor, Allison, Michael, O’Rahilly, Stephen, Barroso, Inês, Meissner, Thomas, Davies, Susan, Hussain, Khalid, Temple, Karen, Barreda-Bonis, Ana-Coral, Kummer, Sebastian, Semple, Robert K
Publicado no Eur J Endocrinol (2017)

Somatic Activating Mutations in Pik3ca Cause Sporadic Venous Malformations in Mice and Humans

Por Castillo, Sandra D., Tzouanacou, Elena, Zaw-Thin, May, Berenjeno, Inma M., Parker, Victoria E.R., Chivite, Iñigo, Milà-Guasch, Maria, Pearce, Wayne, Solomon, Isabelle, Angulo-Urarte, Ana, Figueiredo, Ana M., Dewhurst, Robert E., Knox, Rachel G., Clark, Graeme R., Scudamore, Cheryl L., Badar, Adam, Kalber, Tammy L., Foster, Julie, Stuckey, Daniel J., David, Anna L., Phillips, Wayne A., Lythgoe, Mark F., Wilson, Valerie, Semple, Robert K., Sebire, Neil J., Kinsler, Veronica A., Graupera, Mariona, Vanhaesebroeck, Bart
Publicado no Sci Transl Med (2016)

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 no Genet Med (2018)