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
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Page DJ et al.
Circulation Research, 2019
Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.
Gudernova I et al.
Oncotarget, 2017
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Jin SC et al.
Nature Genetics, 2017
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
FOXC2 and FLT4 Gene Variants in Lymphatic Filariasis.
Sheik Y et al.
Lymphatic Research and Biology, 2015
Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.
Mendola A et al.
Molecular Syndromology, 2013
FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.
Gordon K et al.
Human Mutation, 2013
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
[Genetics of lymphedema: from Milroy's disease to cancer investigations].
Quéré I et al.
La Revue De Medecine Interne, 2002
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.
Irrthum A et al.
American Journal of Human 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