Associated Papers
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.
Revencu N et al.
Orphanet Journal of Rare Diseases, 2024
A pilot study of next generation sequencing-liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel-Trenaunay syndrome.
Palmieri M et al.
Vascular, 2021
Genetic syndromes with vascular malformations - update on molecular background and diagnostics.
Ustaszewski A et al.
Archives of Medical Science : Ams, 2021
Phenotypic progression of skeletal anomalies in CLOVES syndrome.
Klein S et al.
American Journal of Medical Genetics. Part A, 2012
Novel roles of GATA1 in regulation of angiogenic factor AGGF1 and endothelial cell function.
Fan C et al.
The Journal of Biological Chemistry, 2009
Identification of association of common AGGF1 variants with susceptibility for Klippel-Trenaunay syndrome using the structure association program.
Hu Y et al.
Annals of Human Genetics, 2008
Parkes Weber syndrome occurring in a family with capillary malformations.
Brunetti-Pierri N et al.
Clinical Dysmorphology, 2007
The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population.
Gutierrez S et al.
American Journal of Medical Genetics. Part A, 2006
Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes?
Barker KT et al.
Journal of Medical Genetics, 2006
[Klippel-Trenaunay syndrome: identification of a susceptibility gene coding for an angiogenic factor].
Dereure O
Annales De Dermatologie Et De Venereologie, 2005
Genomic control for association studies under various genetic models.
Zheng G et al.
Biometrics, 2005
Update on the molecular genetics of vascular anomalies.
Wang QK
Lymphatic Research and Biology, 2005
Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome.
Tian XL et al.
Nature, 2004
[Schindler disease/Kanzaki disease].
Kanzaki T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1995
[Fabry's disease and Klippel-Trenaunay syndrome of the 4 limbs].
Enjolras O et al.
Annales De Dermatologie Et De Venereologie, 1989