Bibliografia e altre risorse


PIK3CA-related overgrowth spectrum

An Open-Label, Phase 1/2 Study of Miransertib (ARQ 092), an Oral pan-AKT Inhibitor, in Patients with PIK3CA-Related Overgrowth Spectrum (PROS): Preliminary Results (febbraio 2019)

Rare Diseases: Common Issues in Drug Development Guidance for Industry (gennaio 2019)

Impact of biobanks on research outcomes in rare diseases: a systematic review (novembre 2018)

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum (ottobre 2018)

Cancer-Associated PIK3CA Mutations in Overgrowth Disorders (ottobre 2018)

Mosaic Disorders and the Taxonomy of Human Disease (agosto 2018)

Certain skin conditions signal potential overgrowth disorder (settembre 2018)

Lessons for cancer drug treatment from tackling a non-cancerous overgrowth syndrome (giugno 2018)

Targeted therapy in patients with PIK3CA-related overgrowth syndrome (giugno 2018)

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS) (maggio 2018)

Principles for interactions with biopharmaceutical companies: the development of guidelines for patient advocacy organizations in the field of rare diseases (gennaio 2018)

PI3K/mTOR inhibition promotes the regression of experimental vascular malformations driven by PIK3CA-activating mutations (gennaio 2018)

Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder (dicembre 2017)

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing (febbraio 2017)

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution (giugno 2016)

Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation (maggio 2016)

Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans (marzo 2016)

Segmental Hemihyperplasia-Related Macrodactyly with Congenital Renal Agenesis: A Hand Surgeon’s Point of View (settembre 2015)

PIK3CA-Related Overgrowth Spectrum (PROS): Diagnostic and Testing Eligibility Criteria, Differential Diagnosis, and Evaluation (febbraio 2015)

Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum (aprile 2014)

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA (giugno 2012)

Somatic Mosaic Activating Mutations in PIK3CACause CLOVES Syndrome (giugno 2012)