Claire Oudin

Paris, France

Last Updated: 09/26/2026

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Found 9 publications

Adult male patients with DKC1 mutations present early-onset pulmonary fibrosis and severe prognosis.

Adult male patients with DKC1 mutations present early-onset pulmonary fibrosis and severe prognosis.

Journal: ERJ open research

Published: March 31, 2025

Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study.

Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study.

Journal: Respiration; international review of thoracic diseases

Published: August 20, 2021

First heterozygous NOP10 mutation in familial pulmonary fibrosis.

First heterozygous NOP10 mutation in familial pulmonary fibrosis.

Journal: The European respiratory journal

Published: December 21, 2019

The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism.

The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism.

Journal: Haematologica

Published: January 29, 2018

Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans.

Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans.

Journal: Gastroenterology

Published: October 09, 2014

Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies.

Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies.

Journal: Human mutation

Published: May 21, 2014

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

Journal: Human molecular genetics

Published: April 10, 2014

Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.

Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.

Journal: Human mutation

Published: December 19, 2011

A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene.

A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene.

Journal: Blood

Published: October 28, 2011

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Last Updated: 09/26/2026