Associated Papers
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Splicing analysis of 26 F8 nucleotide variations using a minigene assay.
Jourdy Y et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019
Principles of genetic variations and molecular diseases: applications in hemophilia A.
Lannoy N et al.
Critical Reviews in Oncology/hematology, 2016
Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence?
Lannoy N et al.
Thrombosis Research, 2015
Analysis of F8 mRNA in haemophilia A patients with silent mutations or presumptive splice site mutations.
Zimmermann MA et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2013
Origin of Swedish hemophilia A mutations.
Halldén C et al.
Journal of Thrombosis and Haemostasis : Jth, 2012
F8 mRNA studies in haemophilia A patients with different splice site mutations.
Castaman G et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010
Molecular and phenotypic determinants of the response to desmopressin in adult patients with mild hemophilia A.
Castaman G et al.
Journal of Thrombosis and Haemostasis : Jth, 2009
The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype.
Margaglione M et al.
Haematologica, 2008
Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in southern Italy.
Santacroce R et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2008
Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A.
Santacroce R et al.
Journal of Human Genetics, 2008