Benoit Arveiler

Prof - Group leader

Bordeaux University Hospital

France

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Professor Benoit Arveiler is a Group Leader at the University of Bordeaux and University Hospital, France. His research focuses on genetic conditions related to albinism, examining the role of various genetic variants in phenotypic expressions. Recent publications include studies on the genetic architecture of albinism and associated syndromes such as oculo-auriculo-vertebral spectrum and Hermansky-Pudlak syndrome.

Articles (9)

Year:

2025

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2024

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2024

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2022

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2022

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2021

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2021

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2020

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2020

Collaborators (3)

Panos Sergouniotis

Senior Lecturer & Honorary Consultant

The University of Manchester

UNITED KINGDOM

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Sophie Javerzat

FRANCE

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Graeme Black

Professor of Genetics and Ophthalmology

The University of Manchester

UNITED KINGDOM

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Benoit Arveiler

Research Interests

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Articles (9)

A patient with TPCN2-related hypopigmentation and ocular phenotype

Functional Characterization of Splice Variants in the Diagnosis of Albinism

The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism

Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation

A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies

Albinism: An Underdiagnosed Condition

Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis

Collaborators (3)

Panos Sergouniotis

Sophie Javerzat

Graeme Black

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