Associated Papers
Cell-Based Small-Molecule Screening Identifying Proteostasis Regulators Enhancing Factor VIII Missense Mutant Secretion.
Srivastava V et al.
Biomolecules, 2025
Genotype-Dependent Response to Desmopressin in Hemophilia A and Proposal of a Predictive Response Score.
Guillet B et al.
Thrombosis and Haemostasis, 2024
The long-term impact of receiving incidental findings on parents undergoing genome-wide sequencing.
Cheung F et al.
Journal of Genetic Counseling, 2022
Prediction of hemophilia A severity using a small-input machine-learning framework.
Lopes TJS et al.
Npj Systems Biology and Applications, 2021
The odds and implications of coinheritance of hemophilia A and B.
Karch C et al.
Research and Practice in Thrombosis and Haemostasis, 2020
Genetic mosaicism in haemophilia: A practical review to help evaluate the risk of transmitting the disease.
Lannoy N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2020
Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.
Marín Ò et al.
Scientific Reports, 2019
Recurrent F8 and F9 gene variants result from a founder effect in two large French haemophilia cohorts.
Lassalle F et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018
Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence?
Lannoy N et al.
Thrombosis Research, 2015
Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene.
Lannoy N et al.
European Journal of Human Genetics : Ejhg, 2013
Factor VIII mutation and desmopressin-responsiveness in 62 patients with mild haemophilia A.
Nance D et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2013
Computational and molecular approaches for predicting unreported causal missense mutations in Belgian patients with haemophilia A.
Lannoy N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
El-Hattab AW et al.
Journal of Medical Genetics, 2011
Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development.
Repessé Y et al.
Journal of Thrombosis and Haemostasis : Jth, 2007