Associated Papers
Complex Genetics in Somatic Mosaic Disorders: Evaluating the Rate of Multiple "Hits" in Non-Malignant Lesions.
Nguyen B et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2026
Frequent PIK3CA and GNAQ mutations in solitary pulmonary capillary haemangioma and pulmonary cavernous haemangioma: genetic link to vascular malformations.
Yeh YC et al.
Pathology, 2025
Molecular Analysis of Cutaneous Sarcomatoid Neoplasms Frequently Identifies Melanoma Driver Variants.
Jackett LA et al.
The American Journal of Surgical Pathology, 2025
Co-occurrence of EIF1AX, SF3B1, or BAP1 variants in uveal melanomas: A case series and review.
Skrehot HC et al.
American Journal of Ophthalmology Case Reports, 2025
GNAQ/GNA11-Related Benign and Malignant Entities-A Common Histoembriologic Origin or a Tissue-Dependent Coincidence.
Pilch J et al.
Cancers, 2024
Sporadic hypertrophic and nodular port-wine stain: a study of 27 cases with emphasis on histological features and novel mutation type.
Xue S et al.
Journal of Clinical Pathology, 2024
Characterization of Patient-Derived GNAQ Mutated Endothelial Cells from Capillary Malformations.
Langbroek GB et al.
The Journal of Investigative Dermatology, 2024
Capillary malformations.
Hammill AM et al.
The Journal of Clinical Investigation, 2024
Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.
Zhang B et al.
Orphanet Journal of Rare Diseases, 2023
Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache.
Sánchez-Espino LF et al.
The Application of Clinical Genetics, 2023
How we approach genetics in the diagnosis and management of vascular anomalies.
Setty BA et al.
Pediatric Blood & Cancer, 2022
Genetic syndromes with vascular malformations - update on molecular background and diagnostics.
Ustaszewski A et al.
Archives of Medical Science : Ams, 2021
High frequency of GNA14, GNAQ, and GNA11 mutations in cherry hemangioma: a histopathological and molecular study of 85 cases indicating GNA14 as the most commonly mutated gene in vascular neoplasms.
Liau JY et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019
Clinical and genetic analysis of melanomas arising in acral sites.
Zaremba A et al.
European Journal of Cancer (oxford, England : 1990), 2019
GNAQ Q209R Mutations Are Highly Specific for Circumscribed Choroidal Hemangioma.
Le Guin CHD et al.
Cancers, 2019
The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation.
Nguyen V et al.
International Journal of Molecular Sciences, 2019
Novel GNAQ mutation(R183G) of Port-wine stains: first case in East Asia.
Cai R et al.
International Journal of Dermatology, 2019
Use of Targeted Next-Generation Sequencing to Identify Activating Hot Spot Mutations in Cherry Angiomas.
Klebanov N et al.
Jama Dermatology, 2019
Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics.
Siegel DH et al.
The Journal of Investigative Dermatology, 2018
A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth.
Couto JA et al.
Angiogenesis, 2017
Systematic genomic and translational efficiency studies of uveal melanoma.
Johnson CP et al.
Plos One, 2017
Endothelial Cells from Capillary Malformations Are Enriched for Somatic GNAQ Mutations.
Couto JA et al.
Plastic and Reconstructive Surgery, 2016
Absence of activating mutations of the genes encoding the alpha-subunits of G11 and Gq in thyroid neoplasia.
Ringel MD et al.
The Journal of Clinical Endocrinology and Metabolism, 1998