Elodie Fastre

Avenue Hippocrate 74
Brussels, BRU 1200, Belgium

Last Updated: 09/26/2026

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Found 10 publications

Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.

Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.

Journal: Human molecular genetics

Published: October 28, 2023

Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers.

Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers.

Journal: JMIR medical informatics

Published: March 09, 2021

Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.

Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.

Journal: American journal of medical genetics. Part A

Published: December 14, 2020

Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.

Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.

Journal: Orphanet journal of rare diseases

Published: December 02, 2020

Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries.

Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries.

Journal: Atherosclerosis

Published: February 10, 2020

Characterization of ANGPT2 mutations associated with primary lymphedema.

Characterization of ANGPT2 mutations associated with primary lymphedema.

Journal: Science translational medicine

Published: April 24, 2019

RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation.

RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation.

Journal: Journal of medical genetics

Published: January 19, 2019

Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema.

Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema.

Journal: Clinical genetics

Published: September 08, 2017

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.

Journal: Orphanet journal of rare diseases

Published: January 06, 2015

Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.

Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.

Journal: Molecular syndromology

Published: June 06, 2013

Showing 1-10 of 10

Last Updated: 09/26/2026