Associated Papers
Phenotype and genetic variation analysis of primary congenital lymphedema caused by FLT4 gene mutations in a fetus.
Zhai S et al.
Frontiers in 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
Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.
Oliveira DM et al.
Oncotarget, 2018
Next-generation sequencing analysis of receptor-type tyrosine kinase genes in surgically resected colon cancer: identification of gain-of-function mutations in the RET proto-oncogene.
Mendes Oliveira D et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2018
Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.
McDonell LM et al.
Human Molecular Genetics, 2015
FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.
Gordon K et al.
Human Mutation, 2013
Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas.
Connell FC et al.
Human Genetics, 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
Three children with Milroy disease and de novo mutations in VEGFR3.
Carver C et al.
Clinical Genetics, 2007
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.
Ghalamkarpour A et al.
Clinical Genetics, 2006
Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.
Evans AL et al.
Journal of Medical Genetics, 2003
[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