Genetic Forms of Severe Insulin Resistance: What Endocrinologists Should Know

av Parker, Victoria E. R., Semple, Robert K.
I publikationen Eur J Endocrinol (2013)

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

av Keppler-Noreuil, Kim M., Parker, Victoria E.R., Darling, Thomas N., Martinez-Agosto, Julian A.
I publikationen Am J Med Genet C Semin Med Genet (2016)

SEVERE INSULIN RESISTANCE AND HYPERTRIGLYCERIDEMIA AFTER CHILDHOOD TOTAL BODY IRRADIATION

av Mayson, Sarah E., Parker, Victoria E. R., Schutta, Mark H., Semple, Robert K., Rickels, Michael R.
I publikationen Endocr Pract (2013)

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

av 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.
I publikationen Am J Med Genet A (2014)

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

av 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.
I publikationen Am J Med Genet A (2016)

Oncogenic PIK3CA induces centrosome amplification and tolerance to genome doubling

av 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
I publikationen Nat Commun (2017)

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

av 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
I publikationen Eur J Endocrinol (2017)

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

av 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
I publikationen Sci Transl Med (2016)

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

av 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.
I publikationen Genet Med (2018)