Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
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
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Page DJ et al.
Circulation Research, 2019
Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.
Mendola A et al.
Molecular Syndromology, 2013
Recessive primary congenital lymphoedema caused by a VEGFR3 mutation.
Ghalamkarpour A et al.
Journal of Medical Genetics, 2009
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
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.
Ghalamkarpour A et al.
Clinical Genetics, 2006
Clinical variability in a Japanese hereditary lymphedema type I family with an FLT4 mutation.
Mizuno S et al.
Congenital Anomalies, 2005
Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.
Evans AL et al.
Journal of Medical Genetics, 2003
[Genetics of lymphedema: from Milroy's disease to cancer investigations].
Quéré I et al.
La Revue De Medecine Interne, 2002
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