Associated Papers
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
Lajmi Y et al.
Birth Defects Research, 2023
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
Genomic Alterations in Human Papillomavirus-Positive and -Negative Conjunctival Squamous Cell Carcinomas.
Ramberg I et al.
Investigative Ophthalmology & Visual Science, 2021
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
Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.
McDonell LM et al.
Human Molecular Genetics, 2015
Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.
Mendola A et al.
Molecular Syndromology, 2013
Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2.
Ghalamkarpour A et al.
The Journal of Pediatrics, 2009
Research perspectives in inherited lymphatic disease: an update.
Ferrell RE et al.
Annals of the New York Academy of Sciences, 2008
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
Limaye N et al.
Human Genetics, 2007
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
Limaye N et al.
Human Genetics, 2007
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
Limaye N et al.
Human Genetics, 2007
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
Limaye N et al.
Human Genetics, 2007
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
Limaye N et al.
Human Genetics, 2007
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
Limaye N et al.
Human Genetics, 2007
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
Limaye N et al.
Human Genetics, 2007
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
Limaye N et al.
Human Genetics, 2007
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
Limaye N et al.
Human Genetics, 2007
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
Limaye N et al.
Human Genetics, 2007
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
Limaye N et al.
Human Genetics, 2007
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
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
Antenatal presentation of hereditary lymphedema type I.
Boudon E et al.
European Journal of Medical Genetics, 0
[Genomic imprinting and human pathology. 2].
Cirillo Silengo M et al.
La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics, 0