Plaisant Claudio - Serv Genet Med, CHU Bordeaux

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论文共 29 篇作者统计合作学者相似作者

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GENOTYPIC SPECTRUM OF ALBINISM IN MALI

Modibo Diallo, Ousmane Sylla, Mohamed Kole Sidibe,Claudio Plaisant,Elina Mercier, Angele Sequeira,Sophie Javerzat, Abdelaziz Hadid,Eulalie Lasseaux,Vincent Michaud,Benoit Arveiler

Pigment cell & melanoma research (2024)

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The Co-Occurrence of Genetic Variants in the TYR and OCA2 Genes Confers Susceptibility to Albinism

David Green,Vincent MIchaud,Eulalie Lasseaux,Claudio Plaisant,Tomas Fitzgerald,Ewan Birney,Graeme Black,Benoit Arveiler,Panagiotis Sergouniotis

Nature Communicationsno. 1 (2024): 1-10

引用0浏览0WOSNATURE引用

Proteome Characterization of XPC-deficient Melanocytes Generated by CRISPR-Cas9 Technology Reveals Alteration in the Expression of Several Hundred Proteins

Muriel Cario, Julie Scalia,Walid Mahfouf,Elodie Muzotte,Vincent Michaud,Claudio Plaisant,Jean-William Dupuy,Thierry Douki,Fanny Morice-Picard,Jérôme Rambert, Eric Perrier,Sandra Trompezinski,Hamid-Reza Rezvani

Journal of Dermatological Science (2024)

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Functional Characterization of Splice Variants in the Diagnosis of Albinism

Modibo Diallo, Cécile Courdier, Elina Mercier, Angèle Sequeira, Alicia Defay-Stinat,Claudio Plaisant, Shahram Mesdaghi,Daniel Rigden,Sophie Javerzat,Eulalie Lasseaux, Laetitia Bourgeade,Séverine Audebert-Bellanger,Hélène Dollfus,Smail Hadj-Rabia,Fanny Morice-Picard,Manon Philibert, Mohamed Kole Sidibé,Vasily Smirnov, Ousmane Sylla,Vincent Michaud,Benoit Arveiler

International journal of molecular sciencesno. 16 (2024)

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A Multilayered Approach to the Analysis of Genetic Data from Individuals with Suspected Albinism

Panagiotis I. Sergouniotis,Vincent Michaud,Eulalie Lasseaux,Christopher Campbell,Claudio Plaisant,Sophie Javerzat,Ewan Birney,Simon C. Ramsden,Graeme C. Black,Benoit Arveiler

JOURNAL OF MEDICAL GENETICSno. 12 (2023): 1245-1249

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Unsuspected Consequences of Synonymous and Missense Variants in OCA2 Can Be Detected in Blood Cell RNA Samples of Patients with Albinism

Vincent Michaud,Angele Sequeira,Elina Mercier,Eulalie Lasseaux,Claudio Plaisant,Smail Hadj-Rabia,Sandra Whalen,Dominique Bonneau,Anne Dieux-Coeslier,Fanny Morice-Picard,Juliette Coursimault,Benoit Arveiler,Sophie Javerzat

Pigment cell & melanoma research（2023）

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The Contribution of Common Regulatory and Protein-Coding TYR Variants to the Genetic Architecture of Albinism

Vincent Michaud,Eulalie Lasseaux,David J. Green,Dave T. Gerrard,Claudio Plaisant,Tomas Fitzgerald,Ewan Birney,Benoit Arveiler,Graeme C. Black,Panagiotis Sergouniotis

NATURE COMMUNICATIONS（2022）

引用6浏览0WOS引用

A Recurrent Missense Variant in EYA3 Gene is Associated with Oculo-Auriculo-vertebral Spectrum

Tingaud-Sequeira Angèle, CHU Pellegrin-Ecole des Sages-femmes, Wyndham Specialist Care Centre,Stapleton Rachel,Claverol Stéphane,Plaisant Claudio,Bonneu Marc,Lopez Estelle

Human genetics（2021）

引用16浏览0WOS引用

Novel Variants in the BLOC1S3 Gene in Patients Presenting a Mild Form of Hermansky–Pudlak Syndrome

Perrine Pennamen,Angele Tingaud-Sequeira,Vincent Michaud,Fanny Morice-Picard,Claudio Plaisant,Catherine Vincent-Delorme,Fabienne Giuliano,Saba Azarnoush,Yline Capri,Carolina Marcon,Didier Lacombe,Eulalie Lasseaux,Benoit Arveiler

Pigment Cell &amp Melanoma Research（2020）

引用8浏览0引用

Foetal Onset of EIF2B Related Disorder in Two Siblings: Cerebellar Hypoplasia with Absent Bergmann Glia and Severe Hypomyelination

Aurélien Trimouille,Florent Marguet,Fanny Sauvestre,Eulalie Lasseaux,Fanny Pelluard,Marie-Laure Martin-Négrier,Claudio Plaisant,Caroline Rooryck,Didier Lacombe,Benoît Arveiler,Odile Boespflug-Tanguy,Sophie Naudion,Annie Laquerrière

Acta neuropathologica communications（2020）

引用4浏览0WOS引用

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