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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
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31392-3
By:
- Michaud, Vincent;
- Lasseaux, Eulalie;
- Green, David J.;
- Gerrard, Dave T.;
- Plaisant, Claudio;
- UK Biobank Eye and Vision Consortium;
- Fitzgerald, Tomas;
- Birney, Ewan;
- Arveiler, Benoît;
- Black, Graeme C.;
- Sergouniotis, Panagiotis I.
Publication type:
Article
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31392-3
By:
- Michaud, Vincent;
- Lasseaux, Eulalie;
- Green, David J.;
- Gerrard, Dave T.;
- Plaisant, Claudio;
- UK Biobank Eye and Vision Consortium;
- Fitzgerald, Tomas;
- Birney, Ewan;
- Arveiler, Benoît;
- Black, Graeme C.;
- Sergouniotis, Panagiotis I.
Publication type:
Article
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
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
Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia.
Published in:
2024
By:
- Smirnov, Vasily M.;
- Lasseaux, Eulalie;
- Michaud, Vincent;
- Courdier, Cécile;
- Meunier, Isabelle;
- Arveiler, Benoit;
- Defoort-Dhellemmes, Sabine
Publication type:
Case Study
High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.
Published in:
Human Genetics, 2011, v. 129, n. 2, p. 199, doi. 10.1007/s00439-010-0913-5
By:
- Rooryck, Caroline;
- Morice-Picard, Fanny;
- Lasseaux, Eulalie;
- Cailley, Dorothée;
- Dollfus, Hélène;
- Defoort-Dhellemme, Sabine;
- Duban-Bedu, Bénédicte;
- Ravel, Thomy;
- Taieb, Alain;
- Lacombe, Didier;
- Arveiler, Benoît
Publication type:
Article
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
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
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
Triple diagnosis of Wiedemann‐Steiner, Waardenburg and DLG3‐related intellectual disability association found by WES: A case report.
Published in:
Journal of Gene Medicine, 2020, v. 22, n. 8, p. 1, doi. 10.1002/jgm.3197
By:
- Matis, Thibaut;
- Michaud, Vincent;
- Van‐Gils, Julien;
- Raclet, Virginie;
- Plaisant, Claudio;
- Fergelot, Patricia;
- Lasseaux, Eulalie;
- Arveiler, Benoit;
- Trimouille, Aurélien
Publication type:
Article
Characterization of the novel HLA‐DRB1*11:01:01:12N allele by sequencing‐based typing.
Published in:
HLA: Immune Response Genetics, 2023, v. 102, n. 6, p. 765, doi. 10.1111/tan.15205
By:
- Cargou, Marine;
- Elsermans, Vincent;
- Cambridge, Charlotte A.;
- Lasseaux, Eulalie;
- Visentin, Jonathan
Publication type:
Article
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-52763-y
By:
- Green, David J.;
- Michaud, Vincent;
- Lasseaux, Eulalie;
- Plaisant, Claudio;
- Fitzgerald, Tomas;
- Birney, Ewan;
- Black, Graeme C.;
- Arveiler, Benoît;
- Sergouniotis, Panagiotis I.
Publication type:
Article
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
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
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
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome.
Published in:
Pigment Cell & Melanoma Research, 2021, v. 34, n. 1, p. 132, doi. 10.1111/pcmr.12915
By:
- Pennamen, Perrine;
- Tingaud‐Sequeira, Angèle;
- Michaud, Vincent;
- Morice‐Picard, Fanny;
- Plaisant, Claudio;
- Vincent‐Delorme, Catherine;
- Giuliano, Fabienne;
- Azarnoush, Saba;
- Capri, Yline;
- Marçon, Carolina;
- Lacombe, Didier;
- Lasseaux, Eulalie;
- Arveiler, Benoît
Publication type:
Article
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
Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting.
Published in:
Pigment Cell & Melanoma Research, 2018, v. 31, n. 2, p. 318, doi. 10.1111/pcmr.12651
By:
- Marti, Aurélie;
- Lasseaux, Eulalie;
- Ezzedine, Khaled;
- Léauté‐Labrèze, Christine;
- Boralevi, Franck;
- Paya, Clément;
- Coste, Valentine;
- Deroissart, Vincent;
- Arveiler, Benoit;
- Taieb, Alain;
- Morice‐Picard, Fanny
Publication type:
Article
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.
Published in:
Pigment Cell & Melanoma Research, 2017, v. 30, n. 6, p. 563, doi. 10.1111/pcmr.12608
By:
- Michaud, Vincent;
- Lasseaux, Eulalie;
- Plaisant, Claudio;
- Verloes, Alain;
- Perdomo ‐ Trujillo, Yaumara;
- Hamel, Christian;
- Elcioglu, Nursel H.;
- Leroy, Bart;
- Kaplan, Josseline;
- Jouk, Pierre ‐ Simon;
- Lacombe, Didier;
- Fergelot, Patricia;
- Morice ‐ Picard, Fanny;
- Arveiler, Benoit
Publication type:
Article
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
Identification of a homozygous mutation of SLC24A5 ( OCA6) in two patients with oculocutaneous albinism from French Guiana.
Published in:
Pigment Cell & Melanoma Research, 2016, v. 29, n. 1, p. 104, doi. 10.1111/pcmr.12425
By:
- Bertolotti, Antoine;
- Lasseaux, Eulalie;
- Plaisant, Claudio;
- Trimouille, Aurelien;
- Morice ‐ Picard, Fanny;
- Rooryck, Caroline;
- Lacombe, Didier;
- Couppie, Pierre;
- Arveiler, Benoît
Publication type:
Article
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
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
A novel compound heterozygous variant in the LLS gene is associated with nonsyndromic hypotrichosis.
Published in:
Clinical & Experimental Dermatology, 2023, v. 48, n. 9, p. 1087, doi. 10.1093/ced/llad174
By:
- Morice-Picard, Fanny;
- Lanvin, Pierre-Louis;
- Lasseaux, Eulalie;
- Boralevi, Franck;
- Léauté-Labrèze, Christine;
- Lebreton, Louis
Publication type:
Article

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