Loann Raud

Brest, 29200, France

Last Updated: 09/26/2026

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Found 9 publications

Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.

Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.

Journal: American journal of human genetics

Published: March 11, 2022

Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression.

Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression.

Journal: Transfusion

Published: October 26, 2020

Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes.

Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes.

Journal: Blood cells, molecules & diseases

Published: September 30, 2020

Nation-wide investigation of RHD variants in Thai blood donors: Impact for molecular diagnostics.

Nation-wide investigation of RHD variants in Thai blood donors: Impact for molecular diagnostics.

Journal: Transfusion

Published: September 21, 2020

First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts.

First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts.

Journal: Human mutation

Published: November 29, 2018

Comprehensive Molecular Analysis of Serologically D-Negative and Weak/Partial D Phenotype in Thai Blood Donors.

Comprehensive Molecular Analysis of Serologically D-Negative and Weak/Partial D Phenotype in Thai Blood Donors.

Journal: Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie

Published: November 06, 2018

Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype.

Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype.

Journal: Transfusion

Published: October 05, 2018

Weak D type 1, 2 and 3 subtype alleles are rare in the Western French population.

Weak D type 1, 2 and 3 subtype alleles are rare in the Western French population.

Journal: Transfusion medicine (Oxford, England)

Published: July 26, 2017

From genetic variability to phenotypic expression of blood group systems.

From genetic variability to phenotypic expression of blood group systems.

Journal: Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine

Published: June 06, 2017

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Last Updated: 09/26/2026