Genetic Forms of Severe Insulin Resistance: What Endocrinologists Should Know

nork Parker, Victoria E. R., Semple, Robert K.
Argitaratua izan da Eur J Endocrinol (2013)

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

nork Keppler-Noreuil, Kim M., Parker, Victoria E.R., Darling, Thomas N., Martinez-Agosto, Julian A.
Argitaratua izan da Am J Med Genet C Semin Med Genet (2016)

SEVERE INSULIN RESISTANCE AND HYPERTRIGLYCERIDEMIA AFTER CHILDHOOD TOTAL BODY IRRADIATION

nork Mayson, Sarah E., Parker, Victoria E. R., Schutta, Mark H., Semple, Robert K., Rickels, Michael R.
Argitaratua izan da Endocr Pract (2013)

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

nork 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.
Argitaratua izan da Am J Med Genet A (2014)

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

nork 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.
Argitaratua izan da Am J Med Genet A (2016)

Oncogenic PIK3CA induces centrosome amplification and tolerance to genome doubling

nork 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
Argitaratua izan da Nat Commun (2017)

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

nork 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
Argitaratua izan da Eur J Endocrinol (2017)

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

nork 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
Argitaratua izan da Sci Transl Med (2016)

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

nork 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.
Argitaratua izan da Genet Med (2018)