Benoit Arveiler
Bordeaux, France
Last Updated: 09/26/2026
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Found 96 publications
OCA2 common variant NM_000275.3:c.574-19A>G affects splicing and is pathogenic.
Journal: Molecular genetics and metabolism reports
Published: April 23, 2026
A rescue assay for genetic diagnosis of oculocutaneous albinism using melanocytic MNT1 knock-out cells.
Journal: Frontiers in genetics
Published: March 02, 2026
Dyadic adjustment and quality of life in Albinism: A pilot study on their shared lived experiences with their loved ones.
Journal: Presse medicale (Paris, France : 1983)
Published: November 10, 2025
First Report of Oculocutaneous Albinism Type I Among Baka Pygmies From Cameroon.
Journal: Pigment cell & melanoma research
Published: August 18, 2025
From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation.
Journal: PLoS genetics
Published: July 07, 2025
Genetic analysis of participants with foveal hypoplasia.
Journal: Ophthalmic genetics
Published: June 23, 2025
The tryptophan-serotonin axis in albinism: an interesting lead?
Journal: The British journal of dermatology
Published: May 28, 2025
Generation of a human iPSC line, INMi007-A, carrying compound heterozygous DCT variants associated with oculocutaneous albinism type 8.
Journal: Stem cell research
Published: April 29, 2025
Recent advances in albinism.
Journal: Presse medicale (Paris, France : 1983)
Published: January 16, 2025
Albinism: from genetics to cell biology and physiopathology.
Journal: Presse medicale (Paris, France : 1983)
Published: December 27, 2024
A patient with TPCN2-related hypopigmentation and ocular phenotype.
Journal: European journal of human genetics : EJHG
Published: October 12, 2024
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal: Nature genetics
Published: October 02, 2024
Last Updated: 09/26/2026