Works by Kalatzis, Vasiliki

Results: 38
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    SPACR Encoded by IMPG1 Is Essential for Photoreceptor Survival by Interplaying between the Interphotoreceptor Matrix and the Retinal Pigment Epithelium.

    Published in:
    Genes, 2022, v. 13, n. 9, p. 1508, doi. 10.3390/genes13091508
    By:
    • Olivier, Guillaume;
    • Brabet, Philippe;
    • Pirot, Nelly;
    • Broyon, Morgane;
    • Guillou, Laurent;
    • Cazevieille, Chantal;
    • Sar, Chamroeun;
    • Quiles, Melanie;
    • Sarzi, Emmanuelle;
    • Pequignot, Marie;
    • Andreo, Ervann;
    • Roubertie, Agathe;
    • Meunier, Isabelle;
    • Muller, Agnès;
    • Kalatzis, Vasiliki;
    • Manes, Gaël
    Publication type:
    Article
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    A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.

    Published in:
    PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0151943
    By:
    • Sanchez-Alcudia, Rocio;
    • Garcia-Hoyos, Maria;
    • Lopez-Martinez, Miguel Angel;
    • Sanchez-Bolivar, Noelia;
    • Zurita, Olga;
    • Gimenez, Ascension;
    • Villaverde, Cristina;
    • Rodrigues-Jacy da Silva, Luciana;
    • Corton, Marta;
    • Perez-Carro, Raquel;
    • Torriano, Simona;
    • Kalatzis, Vasiliki;
    • Rivolta, Carlo;
    • Avila-Fernandez, Almudena;
    • Lorda, Isabel;
    • Trujillo-Tiebas, Maria J.;
    • Garcia-Sandoval, Blanca;
    • Lopez-Molina, Maria Isabel;
    • Blanco-Kelly, Fiona;
    • Riveiro-Alvarez, Rosa
    Publication type:
    Article
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    The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.

    Published in:
    International Journal of Molecular Sciences, 2021, v. 22, n. 24, p. 13294, doi. 10.3390/ijms222413294
    By:
    • Mansard, Luke;
    • Baux, David;
    • Vaché, Christel;
    • Blanchet, Catherine;
    • Meunier, Isabelle;
    • Willems, Marjolaine;
    • Faugère, Valérie;
    • Baudoin, Corinne;
    • Moclyn, Melody;
    • Bianchi, Julie;
    • Dollfus, Helene;
    • Gilbert-Dussardier, Brigitte;
    • Dupin-Deguine, Delphine;
    • Bonneau, Dominique;
    • Drumare, Isabelle;
    • Odent, Sylvie;
    • Zanlonghi, Xavier;
    • Claustres, Mireille;
    • Koenig, Michel;
    • Kalatzis, Vasiliki
    Publication type:
    Article
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    CRB1 -Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.

    Published in:
    International Journal of Molecular Sciences, 2021, v. 22, n. 23, p. 12642, doi. 10.3390/ijms222312642
    By:
    • Mairot, Kévin;
    • Smirnov, Vasily;
    • Bocquet, Béatrice;
    • Labesse, Gilles;
    • Arndt, Carl;
    • Defoort-Dhellemmes, Sabine;
    • Zanlonghi, Xavier;
    • Hamroun, Dalil;
    • Denis, Danièle;
    • Picot, Marie-Christine;
    • David, Thierry;
    • Grunewald, Olivier;
    • Pégart, Mako;
    • Huguet, Hélèna;
    • Roux, Anne-Françoise;
    • Kalatzis, Vasiliki;
    • Dhaenens, Claire-Marie;
    • Meunier, Isabelle
    Publication type:
    Article
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    SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.

    Published in:
    Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00451-1
    By:
    • de Sainte Agathe, Jean-Madeleine;
    • Filser, Mathilde;
    • Isidor, Bertrand;
    • Besnard, Thomas;
    • Gueguen, Paul;
    • Perrin, Aurélien;
    • Van Goethem, Charles;
    • Verebi, Camille;
    • Masingue, Marion;
    • Rendu, John;
    • Cossée, Mireille;
    • Bergougnoux, Anne;
    • Frobert, Laurent;
    • Buratti, Julien;
    • Lejeune, Élodie;
    • Le Guern, Éric;
    • Pasquier, Florence;
    • Clot, Fabienne;
    • Kalatzis, Vasiliki;
    • Roux, Anne-Françoise
    Publication type:
    Article
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    Cystinosis: from gene to disease.

    Published in:
    Nephrology Dialysis Transplantation, 2002, v. 17, n. 11, p. 1883, doi. 10.1093/ndt/17.11.1883
    By:
    • Kalatzis, Vasiliki;
    • Antignac, Corinne
    Publication type:
    Article
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    Clustering of Mutations Responsible for Branchio-Oto-Renal (BOR) Syndrome in the Eyes Absent Homologous Region (eyaHR) of EYA1.

    Published in:
    Human Molecular Genetics, 1997, v. 6, n. 13, p. 2247, doi. 10.1093/hmg/6.13.2247
    By:
    • Abdelhak, Sonia;
    • Kalatzis, Vasiliki;
    • Heilig, Roland;
    • Compain, Sylvie;
    • Samson, Delphine;
    • Vincent, Christophe;
    • Levi-Acobas, Fabienne;
    • Cruaud, Corinne;
    • Le Merrer, Martine;
    • Mathieu, Michèle;
    • König, Rainer;
    • Vigneron, Jacqueline;
    • Weissenbach, Jean;
    • Petit, Christine;
    • Weil, Dominique
    Publication type:
    Article
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    A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.

    Published in:
    Human Molecular Genetics, 1994, v. 3, n. 10, p. 1859
    By:
    • Vincent, Christophe;
    • Kalatzis, Vasiliki;
    • Compain, Sylvie;
    • Levilliers, Jacqueline;
    • Slim, Rima;
    • Graia, Fatima;
    • Pereira, Maria de Lurdes;
    • Nivelon, Annie;
    • Croquette, Marie-France;
    • Lacombe, Didier;
    • Vigneron, Jacqueline;
    • Helias, Jocelyne;
    • Broyer, Michel;
    • Callen, David F.;
    • Haan, Eric A.;
    • Weissenbach, Jean;
    • Lacroix, Bruno;
    • Bellané-Chantelot, Christine;
    • Paslier, Denis Le;
    • Cohen, Daniel
    Publication type:
    Article
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    Corrective GUSB Transfer to the Canine Mucopolysaccharidosis VII Brain.

    Published in:
    Molecular Therapy, 2014, v. 22, n. 4, p. 762, doi. 10.1038/mt.2013.283
    By:
    • Cubizolle, Aurelie;
    • Serratrice, Nicolas;
    • Skander, Nadia;
    • Colle, Marie-Anne;
    • Ibanes, Sandy;
    • Gennetier, Aurelie;
    • Bayo-Puxan, Neus;
    • Mazouni, Khalil;
    • Mennechet, Franck;
    • Joussemet, Beatrice;
    • Cherel, Yan;
    • Lajat, Yaouen;
    • Vite, Charles;
    • Bernex, Florence;
    • Kalatzis, Vasiliki;
    • Haskins, Mark E;
    • Kremer, Eric J
    Publication type:
    Article
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    Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neurons.

    Published in:
    Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-34523-3
    By:
    • Bayó-Puxan, Neus;
    • Terrasso, Ana Paula;
    • Creyssels, Sophie;
    • Simão, Daniel;
    • Begon-Pescia, Christina;
    • Lavigne, Marina;
    • Salinas, Sara;
    • Bernex, Florence;
    • Bosch, Assumpció;
    • Kalatzis, Vasiliki;
    • Levade, Thierry;
    • Cuervo, Ana Maria;
    • Lory, Philippe;
    • Consiglio, Antonella;
    • Brito, Catarina;
    • Kremer, Eric J.
    Publication type:
    Article
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    Study of Usutu virus neuropathogenicity in mice and human cellular models.

    Published in:
    PLoS Neglected Tropical Diseases, 2020, v. 14, n. 4, p. 1, doi. 10.1371/journal.pntd.0008223
    By:
    • Clé, Marion;
    • Barthelemy, Jonathan;
    • Desmetz, Caroline;
    • Foulongne, Vincent;
    • Lapeyre, Lina;
    • Bolloré, Karine;
    • Tuaillon, Edouard;
    • Erkilic, Nejla;
    • Kalatzis, Vasiliki;
    • Lecollinet, Sylvie;
    • Beck, Cécile;
    • Pirot, Nelly;
    • Glasson, Yaël;
    • Gosselet, Fabien;
    • Alvarez Martinez, Maria Teresa;
    • Van de Perre, Philippe;
    • Salinas, Sara;
    • Simonin, Yannick
    Publication type:
    Article
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