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2020


132 publication(s):

Note: when necessary, only the first 15 authors are displayed.

International refereed journal articles

1 - 
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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2 - 
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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 Reprint request: Subject to availability
3 - 
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
 Reprint request: Subject to availability
4 - 
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
 Reprint request: Subject to availability
5 - 
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).
 Reprint request: Subject to availability
6 - 
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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7 - 
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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 Reprint request: Subject to availability
8 - 
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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 Reprint request: Subject to availability
9 - 
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
PDF file
 Reprint request: Subject to availability
10 - 
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
 Reprint request: Subject to availability


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