Claudia P. Radic

B, Argentina

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 16 publications

The Analysis of the FIX-inhibitor Risks Associated With the F9 Genotype in Patients With Haemophilia B Exposes the Involvement of Nonsense Mediated-decay: Argentinean and International Series.

The Analysis of the FIX-inhibitor Risks Associated With the F9 Genotype in Patients With Haemophilia B Exposes the Involvement of Nonsense Mediated-decay: Argentinean and International Series.

Journal: Haemophilia : the official journal of the World Federation of Hemophilia

Published: March 03, 2026

Erratum: Whole-Body Skeletal Muscle MRI Patterns in Female Dystrophinopathy Carriers.

Erratum: Whole-Body Skeletal Muscle MRI Patterns in Female Dystrophinopathy Carriers.

Journal: Neurology. Genetics

Published: January 26, 2026

Whole-Body Skeletal Muscle MRI Patterns in Female Dystrophinopathy Carriers.

Whole-Body Skeletal Muscle MRI Patterns in Female Dystrophinopathy Carriers.

Journal: Neurology. Genetics

Published: January 28, 2025

Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression.

Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression.

Journal: Journal of medical genetics

Published: January 23, 2024

Haemophilia B, severe childhood obesity and other extra-haematological features associated with similar 4Mb-deletions on Xq27: Clinical findings, molecular insights and literature update.

Haemophilia B, severe childhood obesity and other extra-haematological features associated with similar 4Mb-deletions on Xq27: Clinical findings, molecular insights and literature update.

Journal: Haemophilia : the official journal of the World Federation of Hemophilia

Published: September 16, 2022

Molecular insights into the mechanism of nonrecurrent F8 structural variants: Full breakpoint characterization and bioinformatics of DNA elements implicated in the upmost severe phenotype in hemophilia A.

Molecular insights into the mechanism of nonrecurrent F8 structural variants: Full breakpoint characterization and bioinformatics of DNA elements implicated in the upmost severe phenotype in hemophilia A.

Journal: Human mutation

Published: September 18, 2019

Inverse PCR to perform long-distance haplotyping: main applications to improve preimplantation genetic diagnosis in hemophilia.

Inverse PCR to perform long-distance haplotyping: main applications to improve preimplantation genetic diagnosis in hemophilia.

Journal: European journal of human genetics : EJHG

Published: September 07, 2018

Somatic/Germinal Mosaicism of a F8 Promoter Deletion Confounds Clinical Predictions in a Family with Haemophilia A: Key Role of Genotype Quantitation.

Somatic/Germinal Mosaicism of a F8 Promoter Deletion Confounds Clinical Predictions in a Family with Haemophilia A: Key Role of Genotype Quantitation.

Journal: Thrombosis and haemostasis

Published: March 14, 2018

A prevalent CTLA4 missense variant significantly associates with inhibitor development in Argentine patients with severe haemophilia A.

A prevalent CTLA4 missense variant significantly associates with inhibitor development in Argentine patients with severe haemophilia A.

Journal: Haemophilia : the official journal of the World Federation of Hemophilia

Published: January 13, 2017

F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications.

F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications.

Journal: Thrombosis and haemostasis

Published: August 12, 2015

Reliable and cost-effective approach for diagnosis of heterozygous F8/F9 large deletions by quantitative real-time PCR.

Reliable and cost-effective approach for diagnosis of heterozygous F8/F9 large deletions by quantitative real-time PCR.

Journal: Haemophilia : the official journal of the World Federation of Hemophilia

Published: January 21, 2015

Phenotype-genotype correlations in hemophilia A carriers are consistent with the binary role of the phase between F8 and X-chromosome inactivation.

Phenotype-genotype correlations in hemophilia A carriers are consistent with the binary role of the phase between F8 and X-chromosome inactivation.

Journal: Journal of thrombosis and haemostasis : JTH

Published: August 27, 2014

Showing 1-12 of 16

Last Updated: 09/26/2026