Associated Papers
Alteplase and Angioedema: Can Clinical Exome Sequencing Redefine the Paradigm?
Tarsitano M et al.
Life (basel, Switzerland), 2026
Searching for the 'X' factor: investigating the genetics of primary ovarian insufficiency.
Knight A et al.
Journal of Ovarian Research, 2024
Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity.
Ballonová L et al.
Frontiers in Genetics, 2023
37470035 (PubMed )
Supplement: Table1.XLSX › Table_S3_Deleterious_gene_varia
Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor.
Loules G et al.
Journal of Clinical Medicine, 2020
33114181 (PubMed )
Supplement: jcm-09-03402-s001.zip › jcm-959403-supplementary.xlsx › Table_S2
Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.
França MM et al.
Plos One, 2020
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cheng H et al.
Cell Reports, 2018
30380422 (PubMed )
Supplement: NIHMS1511993-supplement-6.xlsx › Table_S5
Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.
Callier P et al.
Plos Genetics, 2014
A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema.
Cilia La Corte AL et al.
Human Mutation, 2011
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