Associated Papers
Decreased Kinase Activity of the VEGFR3 Variant c.3175G>C Associated with Primary Lymphedema.
Filina YV et al.
Current Issues in Molecular Biology, 2026
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Identification of a Novel FLT4 c.3028A>C Variant Associated With Milroy Disease.
Feiskhanov A et al.
Clinical Genetics, 2025
An Updated Classification of Primary Lymphedema Based on Age of Onset, Lymphatic Anomalies, and Genetics.
Liu NF et al.
Lymphology, 2023
A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects.
Tabib A et al.
European Journal of Medical Research, 2022
FLT4 Mutations Are Associated with Segmental Lymphatic Dysfunction and Initial Lymphatic Aplasia in Patients with Milroy Disease.
Liu N et al.
Genes, 2021
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Page DJ et al.
Circulation Research, 2019
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Jin SC et al.
Nature Genetics, 2017
[Identification of VEGFR3 gene mutation in a Chinese family with autosomal dominant primary congenital lymphoedema].
Sheng JQ et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2010
Recessive primary congenital lymphoedema caused by a VEGFR3 mutation.
Ghalamkarpour A et al.
Journal of Medical Genetics, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Research perspectives in inherited lymphatic disease: an update.
Ferrell RE et al.
Annals of the New York Academy of Sciences, 2008
A novel VEGFR3 mutation causes Milroy disease.
Butler MG et al.
American Journal of Medical Genetics. Part A, 2007
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.
Ghalamkarpour A et al.
Clinical Genetics, 2006
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.
Irrthum A et al.
American Journal of Human Genetics, 2000
RTK mutations and human syndromeswhen good receptors turn bad.
Robertson SC et al.
Trends in Genetics : Tig, 2000
Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.
Karkkainen MJ et al.
Nature Genetics, 2000
[Hypophosphatasia: a family study].
Guala A et al.
La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics, 0
Milroy's primary congenital lymphedema in a male infant and review of the literature.
Kitsiou-Tzeli S et al.
In Vivo (athens, Greece), 0
[Congenital Milroy Oedema: a case report of a family].
Raffa V et al.
La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics, 0
[Genomic imprinting and human pathology. 2].
Cirillo Silengo M et al.
La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics, 0