Works matching AU Lasseaux, Eulalie

Results: 29
    1

    Rare variants in the GABA<sub>A</sub> receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1388
    By:
    • Markus, Fenja;
    • Angelini, Chloé;
    • Trimouille, Aurelien;
    • Rudolf, Gabrielle;
    • Lesca, Gaetan;
    • Goizet, Cyril;
    • Lasseaux, Eulalie;
    • Arveiler, Benoit;
    • Slegtenhorst, Marjon;
    • Brooks, Alice S.;
    • Abou Jamra, Rami;
    • Korenke, Georg‐Christoph;
    • Neidhardt, John;
    • Owczarek‐Lipska, Marta
    Publication type:
    Article
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    Genotypic spectrum of albinism in Mali.

    Published in:
    Pigment Cell & Melanoma Research, 2024, v. 37, n. 6, p. 752, doi. 10.1111/pcmr.13175
    By:
    • Diallo, Modibo;
    • Sylla, Ousmane;
    • Sidibé, Mohamed Kole;
    • Plaisant, Claudio;
    • Mercier, Elina;
    • Sequeira, Angèle;
    • Javerzat, Sophie;
    • Hadid, Abdelaziz;
    • Lasseaux, Eulalie;
    • Michaud, Vincent;
    • Arveiler, Benoit
    Publication type:
    Article
    7

    Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.

    Published in:
    Pigment Cell & Melanoma Research, 2024, v. 37, n. 5, p. 534, doi. 10.1111/pcmr.13123
    By:
    • Michaud, Vincent;
    • Sequeira, Angèle;
    • Mercier, Elina;
    • Lasseaux, Eulalie;
    • Plaisant, Claudio;
    • Hadj‐Rabia, Smail;
    • Whalen, Sandra;
    • Bonneau, Dominique;
    • Dieux‐Coeslier, Anne;
    • Morice‐Picard, Fanny;
    • Coursimault, Juliette;
    • Arveiler, Benoît;
    • Javerzat, Sophie
    Publication type:
    Article
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    Molecular characterization of a series of 990 index patients with albinism.

    Published in:
    Pigment Cell & Melanoma Research, 2018, v. 31, n. 4, p. 466, doi. 10.1111/pcmr.12688
    By:
    • Lasseaux, Eulalie;
    • Plaisant, Claudio;
    • Michaud, Vincent;
    • Pennamen, Perrine;
    • Trimouille, Aurelien;
    • Gaston, Laetitia;
    • Monfermé, Solène;
    • Lacombe, Didier;
    • Rooryck, Caroline;
    • Morice‐Picard, Fanny;
    • Arveiler, Benoît
    Publication type:
    Article
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    Albinism in a patient with mutations at both the OA1 and OCA3 loci.

    Published in:
    Pigment Cell & Melanoma Research, 2016, v. 29, n. 1, p. 107, doi. 10.1111/pcmr.12408
    By:
    • Morice ‐ Picard, Fanny;
    • Lasseaux, Eulalie;
    • Plaisant, Claudio;
    • Cailley, Dorothée;
    • Bouron, Julie;
    • Rooryck, Caroline;
    • Lacombe, Didier;
    • Pelletier, Valérie;
    • Lipsker, Dan;
    • Perdomo ‐ Trujillo, Yaumara;
    • Dollfus, Hélène;
    • Arveiler, Benoit
    Publication type:
    Article
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    High-resolution array- CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.

    Published in:
    Pigment Cell & Melanoma Research, 2014, v. 27, n. 1, p. 59, doi. 10.1111/pcmr.12173
    By:
    • Morice ‐ Picard, Fanny;
    • Lasseaux, Eulalie;
    • Cailley, Dorothée;
    • Gros, Audrey;
    • Toutain, Jérome;
    • Plaisant, Claudio;
    • Simon, Delphine;
    • François, Stéphane;
    • Gilbert ‐ Dussardier, Brigitte;
    • Kaplan, Josseline;
    • Rooryck, Caroline;
    • Lacombe, Didier;
    • Arveiler, Benoit
    Publication type:
    Article
    15

    Identification of a germline deep intronic PTEN-deletion leading to exonization through whole genome and targeted RNA sequencing.

    Published in:
    Familial Cancer, 2025, v. 24, n. 1, p. 1, doi. 10.1007/s10689-025-00445-z
    By:
    • Boedec, Morgane;
    • Aucouturier, Camille;
    • Cavaillé, Mathias;
    • Leman, Raphaël;
    • Castéra, Laurent;
    • Delhomelle, Hélène;
    • Uhrhammer, Nancy;
    • Bernard, Virginie;
    • Giraud, Sophie;
    • Lasseaux, Eulalie;
    • Jones, Natalie;
    • Bidart, Marie;
    • Boutry-Kryza, Nadia;
    • Noguès, Catherine;
    • Colas, Chrystelle;
    • Maugard, Christine;
    • Krieger, Sophie;
    • Bouras, Ahmed
    Publication type:
    Article
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    Functional Characterization of Splice Variants in the Diagnosis of Albinism.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 8657, doi. 10.3390/ijms25168657
    By:
    • Diallo, Modibo;
    • Courdier, Cécile;
    • Mercier, Elina;
    • Sequeira, Angèle;
    • Defay-Stinat, Alicia;
    • Plaisant, Claudio;
    • Mesdaghi, Shahram;
    • Rigden, Daniel;
    • Javerzat, Sophie;
    • Lasseaux, Eulalie;
    • Bourgeade, Laetitia;
    • Audebert-Bellanger, Séverine;
    • Dollfus, Hélène;
    • Hadj-Rabia, Smail;
    • Morice-Picard, Fanny;
    • Philibert, Manon;
    • Sidibé, Mohamed Kole;
    • Smirnov, Vasily;
    • Sylla, Ousmane;
    • Michaud, Vincent
    Publication type:
    Article
    19

    Clinical variability and probable founder effect in oculocutaneous albinism type 7.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 3, p. 527, doi. 10.1111/cge.13655
    By:
    • Bataille, Pauline;
    • Michaud, Vincent;
    • Robert, Matthieu P.;
    • Bekel, Lilia;
    • Leclerc‐Mercier, Stéphanie;
    • Harroche, Annie;
    • Célérier, Charlotte;
    • Lasseaux, Eulalie;
    • Borgel, Delphine;
    • Bremond‐Gignac, Dominique;
    • Bodemer, Christine;
    • Arveiler, Benoit;
    • Hadj‐Rabia, Smaïl
    Publication type:
    Article
    20

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

    Published in:
    Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-00929-2
    By:
    • 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
    Publication type:
    Article
    21

    Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.

    Published in:
    Journal of Clinical Immunology, 2021, v. 41, n. 5, p. 958, doi. 10.1007/s10875-021-00985-w
    By:
    • Fusaro, Mathieu;
    • Vincent, Aline;
    • Castelle, Martin;
    • Rosain, Jérémie;
    • Fournier, Benjamin;
    • Veiga-da-Cunha, Maria;
    • Kentache, Takfarinas;
    • Serre, Jill;
    • Fallet-Bianco, Catherine;
    • Delezoide, Anne-Lise;
    • Renesme, Laurent;
    • Picard, Fanny Morice;
    • Lasseaux, Eulalie;
    • Aladjidi, Nathalie;
    • Seta, Nathalie;
    • Cormier-Daire, Valérie;
    • Schaftingen, Emile van;
    • Neven, Bénédicte;
    • Moshous, Despina;
    • Blesson, Sophie
    Publication type:
    Article
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    PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1030, doi. 10.1002/ajmg.a.61127
    By:
    • Bonnemason‐Carrere, Paul;
    • Morice‐Picard, Fanny;
    • Pennamen, Perrine;
    • Arveiler, Benoit;
    • Fergelot, Patricia;
    • Goizet, Cyril;
    • Hellegouarch, Mélanie;
    • Lacombe, Didier;
    • Plaisant, Claudio;
    • Raclet, Virginie;
    • Rooryck, Caroline;
    • Lasseaux, Eulalie;
    • Trimouille, Aurélien
    Publication type:
    Article
    26

    SLC24A5 Mutations Are Associated with Non-Syndromic Oculocutaneous Albinism.

    Published in:
    Journal of Investigative Dermatology, 2014, v. 134, n. 2, p. 568, doi. 10.1038/jid.2013.360
    By:
    • Morice-Picard, Fanny;
    • Lasseaux, Eulalie;
    • François, Stéphane;
    • Simon, Delphine;
    • Rooryck, Caroline;
    • Bieth, Eric;
    • Colin, Estelle;
    • Bonneau, Dominique;
    • Journel, Hubert;
    • Walraedt, Sophie;
    • Leroy, Bart P;
    • Meire, Francoise;
    • Lacombe, Didier;
    • Arveiler, Benoit
    Publication type:
    Article
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    Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.

    Published in:
    Genes, 2022, v. 13, n. 12, p. 2198, doi. 10.3390/genes13122198
    By:
    • Moreno-Artero, Ester;
    • Morice-Picard, Fanny;
    • Lasseaux, Eulalie;
    • Robert, Matthieu P.;
    • Coste, Valentine;
    • Michaud, Vincent;
    • Leclerc-Mercier, Stéphanie;
    • Bremond-Gignac, Dominique;
    • Arveiler, Benoit;
    • Hadj-Rabia, Smail
    Publication type:
    Article