Detalhe da pesquisa
1.
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.
Hum Mol Genet
; 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38676400
2.
Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.
Am J Med Genet A
; 185(7): 2153-2159, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33851505
3.
RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation.
J Med Genet
; 57(1): 48-52, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31300548
4.
Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers.
JMIR Med Inform
; 9(7): e27980, 2021 Jul 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34255700
5.
Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.
Orphanet J Rare Dis
; 16(1): 267, 2021 06 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34112235
6.
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.
Atherosclerosis
; 319: 108-117, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33508743
7.
Characterization of ANGPT2 mutations associated with primary lymphedema.
Sci Transl Med
; 12(560)2020 09 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32908006
8.
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
Orphanet J Rare Dis
; 10: 52, 2015 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25934493