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Open Access Repository.
2020
132 publication(s):Note: when necessary, only the first 15 authors are displayed.International refereed journal articles
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Porphyromonas spp. have an extensive host range in ill and healthy individuals and an unexpected environmental distribution: A systematic review and meta-analysis
- Luis Acuña-Amador, Frédérique Barloy-Hubler
- Anaerobe, 2020, 66, pp.102280.
- DOI : https://doi.org/10.1016/j.anaerobe.2020.102280
- Pubmed : 33011277
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Mutation of Arginine 264 on ERα (Estrogen Receptor Alpha) Selectively Abrogates the Rapid Signaling of Estradiol in the Endothelium Without Altering Fertility
- Marine Adlanmerini, Chanaëlle Febrissy, Rana Zahreddine, Emilie Vessières, Melissa Buscato, Romain Solinhac, Julie Favre, Typhaine Anquetil, Anne-Laure Guihot, Frederic Boudou, Isabelle Raymond-Letron, Pierre Chambon, Pierre Gourdy, Claes Ohlsson, Henrik Laurell et al.
- Arteriosclerosis, Thrombosis, and Vascular Biology, 2020, 40 (9), pp.2143-2158.
- DOI : https://doi.org/10.1161/ATVBAHA.120.314159
- Pubmed : 32640903
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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
- Erfan Aref-Eshghi, Jennifer Kerkhof, Victor Pedro, Mouna Barat-Houari, Nathalie Ruiz-Pallares, Jean-Christophe Andrau, Didier Lacombe, Julien Van-Gils, Patricia Fergelot, Christèle Dubourg, Valérie Cormier-Daire, Sophie Rondeau, François Lecoquierre, Pascale Saugier-Veber, Gaël Nicolas et al.
- American Journal of Human Genetics, 2020, 106 (3), pp.356-370.
- DOI : https://doi.org/10.1016/j.ajhg.2020.01.019
- Pubmed : 32109418
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A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis
- Pauline Arnaud, Caroline Racine, Nadine Hanna, Julien Thevenon, Jean-Luc Alessandri, Dominique Bonneau, Jill Clayton-Smith, Christine Coubes, Bruno Delobel, Sophie Dupuis-Girod, Laurent Gouya, Sylvie Odent, Virginie Carmignac, Christel Thauvin-Robinet, Carine Le Goff et al.
- Human Genetics, 2020, 139 (4), pp.461-472.
- DOI : https://doi.org/10.1007/s00439-019-02102-9
- Pubmed : 31980905
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The post-transcriptional regulators Celf1 and Elavl1 control key transcription factors in lens development
- Sandeep Aryal, Justine Veit, Bailey A. T. Weatherbee, Archana Devi Siddam, F Hernández, Carole Gautier-Courteille, Luc Paillard, Salil A. Lachke
- Investigative Ophthalmology & Visual Science, 2020, 61 (7).
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The cataract-linked RNA-binding protein Celf1 post-transcriptionally controls the spatiotemporal expression of the key homeodomain transcription factors Pax6 and Prox1 in lens development
- Sandeep Aryal, Justine Viet, Bailey a T Weatherbee, Archana D. Siddam, Francisco José García-Hernández, Carole Gautier-Courteille, Luc Paillard, Salil A. Lachke
- Human Genetics, 2020, 139 (12), pp.1541-1554.
- DOI : https://doi.org/10.1007/s00439-020-02195-7
- Pubmed : 32594240
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Electron Mass Predicted From Substructure Stability in Electrodynamical Model
- Stéphane Avner, Florence Boillot
- Frontiers in Physics, 2020, 8,
- DOI : https://doi.org/10.3389/fphy.2020.00213
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Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature
- Claire Bar, Giulia Barcia, Mélanie Jennesson, Gwenaël Le Guyader, Amy Schneider, Cyril Mignot, Gaetan Lesca, Delphine Breuillard, Martino Montomoli, Boris Keren, Diane Doummar, Thierry Billette de Villemeur, Alexandra Afenjar, Isabelle Marey, Marion Gérard et al.
- Human Mutation, 2020, 41 (1), pp.69-80.
- DOI : https://doi.org/10.1002/humu.23915
- Pubmed : 31513310
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Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome
- Claire Bar, Mathieu Kuchenbuch, Giulia Barcia, Amy Schneider, Mélanie Jennesson, Gwenaël Le Guyader, Gaetan Lesca, Cyril Mignot, Martino Montomoli, Elena Parrini, Hervé Isnard, Anne Rolland, Boris Keren, Alexandra Afenjar, Nathalie Dorison et al.
- Epilepsia, 2020, 61 (11), pp.2461-2473.
- DOI : https://doi.org/10.1111/epi.16679
- Pubmed : 32954514
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Maternal and perinatal characteristics, congenital malformations and the risk of wilms tumor: the ESTELLE study
- Hélène Bauer, Paula Rios, Gudrun Schleiermacher, Dominique Valteau-Couanet, Anne-Isabelle Bertozzi, Estelle Thebaud, Virginie Gandemer, Isabelle Pellier, Arnauld Verschuur, Alexandra Spiegel, Anne Notz-Carrere, Christophe Bergeron, Laurent Orsi, Brigitte Lacour, Jacqueline Clavel et al.
- Cancer Causes and Control, 2020, 31 (5), pp.491-501.
- DOI : https://doi.org/10.1007/s10552-020-01288-y
- Pubmed : 32144681
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