Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth

Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth

(2021) Catherine E. Cottrell et al.   GENETICS IN MEDICINE

Class IA PI3K regulatory subunits: p110-independent roles and structures

(2020) Millie Fox et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Prenatal imaging diagnosis of PIK3CA ‐related overgrowth spectrum (PROS) disorders in the first trimester with emphasis on the extremities

(2019) A. Fraissenon et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

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

(2018) Victoria E. R. Parker et al.   GENETICS IN MEDICINE

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

(2018) Quitterie Venot et al.   NATURE

Cancer-Associated PIK3CA Mutations in Overgrowth Disorders

(2018) Ralitsa R. Madsen et al.   TRENDS IN MOLECULAR MEDICINE

A targeted treatment with off-target risks

(2017) David A. Fruman et al.   NATURE

Clinical reappraisal of SHORT syndrome withPIK3R1mutations: toward recommendation for molecular testing and management

(2015) M. Avila et al.   CLINICAL GENETICS

PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

(2014) Kim M. Keppler-Noreuil et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

PI3K signalling: the path to discovery and understanding

(2012) Bart Vanhaesebroeck et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Sirolimus for the treatment of complicated vascular anomalies in children

(2011) Adrienne M. Hammill et al.   PEDIATRIC BLOOD & CANCER