Associated Papers
Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism.
Leon-Quintero FZ et al.
Clinical Genetics, 2025
The molecular genetics of PI3K/PTEN/AKT/mTOR pathway in the malformations of cortical development.
Ma Q et al.
Genes & Diseases, 2024
Delineation of the phenotypes and genotypes of PIK3CA-related overgrowth spectrum in East asians.
Chen H et al.
Molecular Genetics and Genomics : Mgg, 2024
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros).
Reynolds G et al.
European Journal of Human Genetics : Ejhg, 2023
Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel-Trenaunay syndrome in an Asian population : List the full names and institutional addresses for all authors.
Sasaki Y et al.
Orphanet Journal of Rare Diseases, 2023
Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.
Zhang B et al.
Orphanet Journal of Rare Diseases, 2023
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
Mussa A et al.
Journal of Medical Genetics, 2023
Profiling PIK3CA variants in disorders of somatic mosaicism.
Mojarad BA et al.
Genetics in Medicine Open, 2023
PI3K/AKT/mTOR signaling pathway activity in IDH-mutant diffuse glioma and clinical implications.
Mohamed E et al.
Neuro-oncology, 2022
Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study.
Diociaiuti A et al.
Biomedicines, 2022
PIK3CA-related overgrowth with an uncommon phenotype: case report.
Rotunno R et al.
Italian Journal of Pediatrics, 2022
An Analysis of the Pathogenic Genes and Mutation Sites of Macrodactyly.
Li JF et al.
Pharmacogenomics and Personalized Medicine, 2022
Aberrant muscular hyperplasia of the hand and PIK3CA related overgrowth spectrum disorders. A case series study.
Delgado-Miguel C et al.
Cirugia Pediatrica : Organo Oficial De La Sociedad Espanola De Cirugia Pediatrica, 2021
Comprehensive characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment.
Sun H et al.
Nature Communications, 2021
Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathway.
Yan W et al.
Hereditas, 2021
Distinct genomic profile in h. pylori-associated gastric cancer.
Zhang X et al.
Cancer Medicine, 2021
Relevance and actionable mutational spectrum in oral squamous cell carcinoma.
Jayaprakash C et al.
Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2020
Intratumour heterogeneity in endometrial serous carcinoma assessed by targeted sequencing and multiplex ligation-dependent probe amplification: a descriptive study.
Cuevas D et al.
Histopathology, 2020
Differences in the molecular profile of endometrial cancers from British White and British South Asian women.
Polymeros K et al.
Plos One, 2020
Targeted sequencing with a customized panel to assess histological typing in endometrial carcinoma.
Cuevas D et al.
Virchows Archiv : an International Journal of Pathology, 2019
Molecular diagnosis of somatic overgrowth conditions: A single-center experience.
Lalonde E et al.
Molecular Genetics & Genomic Medicine, 2019
Heterogeneous pathway activation and drug response modelled in colorectal-tumor-derived 3D cultures.
Schumacher D et al.
Plos Genetics, 2019
PIK3CA mutations contribute to fulvestrant resistance in ER-positive breast cancer.
Huang D et al.
American Journal of Translational Research, 2019
An investigation of PIK3CA mutations in isolated macrodactyly.
Wu J et al.
The Journal of Hand Surgery, European Volume, 2018
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.
Rodriguez-Laguna L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
APOBEC3A is an oral cancer prognostic biomarker in Taiwanese carriers of an APOBEC deletion polymorphism.
Chen TW et al.
Nature Communications, 2017
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Kuentz P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Mirzaa G et al.
Jci Insight, 2016
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
Keppler-Noreuil KM et al.
American Journal of Medical Genetics. Part A, 2015
Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.
Swarr DT et al.
Prenatal Diagnosis, 2013
Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.
Mirzaa GM et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2013
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly.
Rios JJ et al.
Human Molecular Genetics, 2013