Fabrice Airaud

Nantes, France

Last Updated: 09/26/2026

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Found 19 publications

Identification of Hepatic-like EPO as a Cause of Polycythemia.

Identification of Hepatic-like EPO as a Cause of Polycythemia.

Journal: The New England journal of medicine

Published: April 30, 2025

Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?

Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?

Journal: Genes

Published: March 03, 2023

Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.

Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.

Journal: Haematologica

Published: February 10, 2023

Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.

Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.

Journal: Haematologica

Published: September 01, 2022

MEM: An Algorithm for the Reliable Detection of Microsatellite Instability (MSI) on a Small NGS Panel in Colorectal Cancer.

MEM: An Algorithm for the Reliable Detection of Microsatellite Instability (MSI) on a Small NGS Panel in Colorectal Cancer.

Journal: Cancers

Published: July 13, 2021

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

Journal: American journal of human genetics

Published: June 15, 2021

A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman.

A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman.

Journal: Familial cancer

Published: May 03, 2021

Mapping of colorectal carcinoma diseases with activation of Wnt/beta-catenin signalling pathway using hierarchical clustering approach.

Mapping of colorectal carcinoma diseases with activation of Wnt/beta-catenin signalling pathway using hierarchical clustering approach.

Journal: Journal of clinical pathology

Published: September 26, 2020

Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis.

Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis.

Journal: Blood

Published: July 27, 2020

Low incidence of EPOR mutations in idiopathic erythrocytosis.

Low incidence of EPOR mutations in idiopathic erythrocytosis.

Journal: Haematologica

Published: March 12, 2020

Diagnosis of exon 12-positive polycythemia vera rescued by NGS.

Diagnosis of exon 12-positive polycythemia vera rescued by NGS.

Journal: Clinical case reports

Published: December 13, 2019

A new case of rare erythrocytosis due to EGLN1 mutation with review of the literature

A new case of rare erythrocytosis due to EGLN1 mutation with review of the literature

Journal: La Revue de medecine interne

Published: October 01, 2019

Showing 1-12 of 19

Last Updated: 09/26/2026