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2020

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

 

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 et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2020, 40 (9), pp.2143-2158.

DOI : https://doi.org/10.1161/ATVBAHA.120.314159

Pubmed : 32640903

 

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 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

 

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 et al.

Human Genetics, 2020, 139 (4), pp.461-472.

DOI : https://doi.org/10.1007/s00439-019-02102-9

Pubmed : 31980905

 

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 et al.

Investigative Ophthalmology & Visual Science, 2020, 61 (7).

 

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 et al.

Human Genetics, 2020, 139 (12), pp.1541-1554.

DOI : https://doi.org/10.1007/s00439-020-02195-7

Pubmed : 32594240

 

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

 

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 et al.

Human Mutation, 2020, 41 (1), pp.69-80.

DOI : https://doi.org/10.1002/humu.23915

Pubmed : 31513310

 

9 - 

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome

Claire Bar, Mathieu Kuchenbuch, Giulia Barcia, Amy Schneider, Mélanie Jennesson et al.

Epilepsia, 2020, 61 (11), pp.2461-2473.

DOI : https://doi.org/10.1111/epi.16679

Pubmed : 32954514

 

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 et al.

Cancer Causes and Control, 2020, 31 (5), pp.491-501.

DOI : https://doi.org/10.1007/s10552-020-01288-y

Pubmed : 32144681