Associated Papers
Blue Nodules in a 2-Year-Old Female With Chronic Severe Anemia.
Ross KR et al.
International Journal of Dermatology, 2025
Comprehensive Analysis of TEK Variants in Patients With Vascular Malformations.
Ghasemi R et al.
Clinical Genetics, 2025
Genetic mutation and blue rubber bleb nevus syndrome: case reports and literature review.
Xing Y et al.
Frontiers in Genetics, 2025
Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism.
Cao Y et al.
Genetics in Medicine Open, 2023
The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms.
Butnariu LI et al.
International Journal of Molecular Sciences, 2022
How we approach genetics in the diagnosis and management of vascular anomalies.
Setty BA et al.
Pediatric Blood & Cancer, 2022
Sirolimus as a promising drug therapy for blue rubber bleb nevus syndrome: Two-case report.
Ma JX et al.
Sage Open Medical Case Reports, 2022
Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos.
Bell LM et al.
Human Molecular Genetics, 2021
Bockenheimer disease is associated with a TEK variant.
Sudduth CL et al.
Cold Spring Harbor Molecular Case Studies, 2021
Venous Malformations in Childhood: Clinical, Histopathological and Genetics Update.
Colmenero I et al.
Dermatopathology (basel, Switzerland), 2021
Etiology and Genetics of Congenital Vascular Lesions.
Queisser A et al.
Otolaryngologic Clinics of North America, 2018
Review of the endothelial pathogenic mechanism of TIE2-related venous malformation.
Du Z et al.
Journal of Vascular Surgery. Venous and Lymphatic Disorders, 2017
Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
Soblet J et al.
The Journal of Investigative Dermatology, 2017
Double Jeopardy: The Rubber Ball Bounces Twice.
Arbiser JL et al.
The Journal of Investigative Dermatology, 2017
Common and specific effects of TIE2 mutations causing venous malformations.
Nätynki M et al.
Human Molecular Genetics, 2015
Classification and Tie2 mutations in spinal and soft tissue vascular anomalies.
Zhou M et al.
Gene, 2015
Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations.
Soblet J et al.
Molecular Syndromology, 2013