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
Blue Nodules in a 2-Year-Old Female With Chronic Severe Anemia.
Ross KR et al.
International Journal of Dermatology, 2025
A Case of Multifocal Venous Malformation With Two Somatic Pathogenic Variants in the TEK Gene.
Ochiai S et al.
The Journal of Dermatology, 2025
High depth targeted next-generation sequencing in vascular malformations.
Pakhathirathien P et al.
Human Molecular Genetics, 2025
Theragnostic approach of venous malformations in 2025: Similarities and differences with oncology advances.
Dompmartin A et al.
Presse Medicale (paris, France : 1983), 2025
Comprehensive Analysis of TEK Variants in Patients With Vascular Malformations.
Ghasemi R et al.
Clinical Genetics, 2025
Comprehensive phenotypic and genomic characterization of venous malformations.
Hirose K et al.
Human Pathology, 2024
Improving genetic diagnostic yield in a large cohort of children with rare vascular anomalies or PIK3CA-related overgrowth spectrum.
Green TE et al.
Genetics in Medicine Open, 2024
High-depth next-generation sequencing panel testing in the evaluation of arteriovenous malformations.
Hernandez PV et al.
American Journal of Medical Genetics. Part A, 2023
Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism.
Cao Y et al.
Genetics in Medicine Open, 2023
Comprehensive targeted next-generation sequencing in patients with slow-flow vascular malformations.
Nozawa A et al.
Journal of Human Genetics, 2022
How we approach genetics in the diagnosis and management of vascular anomalies.
Setty BA et al.
Pediatric Blood & Cancer, 2022
Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study.
Diociaiuti A et al.
Biomedicines, 2022
Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations.
Paolacci S et al.
Journal of Clinical Medicine, 2020
Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases.
Ten Broek RW et al.
Genes, Chromosomes & Cancer, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 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
15 years of PhosphoSitePlus®: integrating post-translationally modified sites, disease variants and isoforms.
Hornbeck PV et al.
Nucleic Acids Research, 2019
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
Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans.
Castillo SD et al.
Science Translational Medicine, 2016
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
Lack of TEK Gene Mutation in Patients with Cutaneomucosal Venous Malformations from the North-Western Region of Algeria.
Brahami N et al.
Genetics Research International, 2013
Somatic mutations in exon 17 of the TEK gene in vascular tumors and vascular malformations.
Ye C et al.
Journal of Vascular Surgery, 2011
Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.
Wouters V et al.
European Journal of Human Genetics : Ejhg, 2010
Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations.
Limaye N et al.
Nature Genetics, 2009