Lasseaux相关文献与解析，生知库 | 链接生命科学的每一步

Courdier, Cécile; Michaud, Vincent; Diallo, Modibo; Plaisant, Claudio; Lasseaux, Eulalie; Helot, Isabelle; Philippe, Elodie; Vrielynck, Els; Willems, Marjolaine; Arveiler, Benoit

发表日期：2025

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

TYR 和 OCA2 基因的遗传变异同时出现会使个体易患白化病。

期刊:Nature Communications

影响因子:15.7

doi:10.1038/s41467-024-52763-y

Green, David J; Michaud, Vincent; Lasseaux, Eulalie; Plaisant, Claudio; Fitzgerald, Tomas; Birney, Ewan; Black, Graeme C; Arveiler, Benoît; Sergouniotis, Panagiotis I

发表日期：2024

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Functional Characterization of Splice Variants in the Diagnosis of Albinism

白化病诊断中剪接变异体的功能表征

期刊:International Journal of Molecular Sciences

影响因子:0.7

doi:10.3390/ijms25168657

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

发表日期：2024

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Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center

参考中心跟踪的眼皮肤白化病患者的眼科表型-基因型相关性

期刊:Investigative Ophthalmology & Visual Science

影响因子:5

doi:10.1167/iovs.64.12.26

Paul-Henri Seguy, Jean-François Korobelnik, Marie-Noëlle Delyfer, Vincent Michaud, Benoit Arveiler, Eulalie Lasseaux, Sarra Gattoussi, Marie-Bénédicte Rougier, Kilian Trin, Fanny Morice-Picard, Nathalie Ghomashchi, Valentine Coste

发表日期：2023

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

常见调控和蛋白质编码 TYR 变异对白化病遗传结构的贡献

期刊:Nature Communications

影响因子:15.7

doi:10.1038/s41467-022-31392-3

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

信号转导

发表日期：2022

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De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

AGO1 基因中的新生编码变异会导致神经发育障碍和智力障碍

期刊:Journal of Medical Genetics

影响因子:3.5

doi:10.1136/jmedgenet-2021-107751

Audrey Schalk #, Margot A Cousin #, Nikita R Dsouza, Thomas D Challman, Karen E Wain, Zoe Powis, Kelly Minks, Aurélien Trimouille, Eulalie Lasseaux, Didier Lacombe, Chloé Angelini, Vincent Michaud, Julien Van-Gils, Nino Spataro, Anna Ruiz, Elizabeth Gabau, Elliot Stolerman, Camerun Washington, Ray L

BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome

BLOC1S5 致病变异导致一种新型 Hermansky-Pudlak 综合征

期刊:Genetics in Medicine

影响因子:6.6

doi:10.1038/s41436-020-0867-5

Perrine Pennamen, Linh Le, Angèle Tingaud-Sequeira, Mathieu Fiore, Anne Bauters, Nguyen Van Duong Béatrice, Valentine Coste, Jean-Claude Bordet, Claudio Plaisant, Modibo Diallo, Vincent Michaud, Aurélien Trimouille, Didier Lacombe, Eulalie Lasseaux, Cédric Delevoye, Fanny Morice Picard, Bruno Delobe

发表日期：2020

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Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination

两名同胞胎儿期即出现与 EIF2B 相关的疾病：小脑发育不全伴伯格曼胶质细胞缺失和严重髓鞘发育不良

期刊:Acta Neuropathologica Communications

影响因子:5.7

doi:10.1186/s40478-020-00929-2

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

Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

在具有多种癫痫表型的患者中发现 GABAA 受体亚基 ε 的罕见变异

期刊:Molecular Genetics & Genomic Medicine

影响因子:1.5

doi:10.1002/mgg3.1388

Fenja Markus, Chloé Angelini, Aurelien Trimouille, Gabrielle Rudolf, Gaetan Lesca, Cyril Goizet, Eulalie Lasseaux, Benoit Arveiler, Marjon van Slegtenhorst, Alice S Brooks, Rami Abou Jamra, Georg-Christoph Korenke, John Neidhardt, Marta Owczarek-Lipska

Understanding the Cellular Origin of the Mononuclear Phagocyte System Sheds Light on the Myeloid Postulate of Immune Paralysis in Sepsis

了解单核吞噬细胞系统的细胞起源有助于阐明脓毒症免疫麻痹的髓系假说

期刊:Frontiers in Immunology

影响因子:5.9

doi:10.3389/fimmu.2018.00823

Poulin, Lionel Franz; Lasseaux, Corentin; Chamaillard, Mathias

A patient with TPCN2-related hypopigmentation and ocular phenotype

一名患有TPCN2相关色素减退和眼部表型的患者

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

TYR 和 OCA2 基因的遗传变异同时出现会使个体易患白化病。

Functional Characterization of Splice Variants in the Diagnosis of Albinism

白化病诊断中剪接变异体的功能表征

Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center

参考中心跟踪的眼皮肤白化病患者的眼科表型-基因型相关性

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

常见调控和蛋白质编码 TYR 变异对白化病遗传结构的贡献

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

AGO1 基因中的新生编码变异会导致神经发育障碍和智力障碍

BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome

BLOC1S5 致病变异导致一种新型 Hermansky-Pudlak 综合征

Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination

两名同胞胎儿期即出现与 EIF2B 相关的疾病：小脑发育不全伴伯格曼胶质细胞缺失和严重髓鞘发育不良

Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

在具有多种癫痫表型的患者中发现 GABAA 受体亚基 ε 的罕见变异

Understanding the Cellular Origin of the Mononuclear Phagocyte System Sheds Light on the Myeloid Postulate of Immune Paralysis in Sepsis

了解单核吞噬细胞系统的细胞起源有助于阐明脓毒症免疫麻痹的髓系假说