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2020

Articles avec comité de lecture de revues internationales

111 - 

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)

Elena J. Tucker, Rocio Rius, Sylvie Jaillard, Katrina Bell, Phillipa J. Lamont, Andre Travessa, Juliette Dupont, Lurdes Sampaio, Jerome Dulon, Sandrine Vuillaumier-Barrot, Sandra Whalen, Arnaud Isapof, Tanya Stojkovic, Susana Quijano-Roy, Gorjana Robevska et al.

Human Genetics, 2020, 139 (10), 1325-1343.

DOI : https://doi.org/10.1007/s00439-020-02176-w

Pubmed : 32399598

 

112 - 

New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing

Sylvie Jaillard, K.W. Bell, Linda Akloul, K Walton, Kenneth Mcelreavy, W.A. Stocker, M. Beaumont, C Harrisson, Tiina Jääskeläinen, J.J. Palvimo, Gorjana Robevska, E. Launay, A-P Satie, N. Listyasari, Claude Bendavid et al.

Maturitas, 2020, 141, 9-19.

DOI : https://doi.org/10.1016/j.maturitas.2020.06.004

Pubmed : 33036707

 

113 - 

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia

Sylvie Jaillard, Kenneth Mcelreavy, Gorjana Robevska, Linda Akloul, Farah Ghieh, Rajini Sreenivasan, Marion Beaumont, Anu Bashamboo, Joelle Bignon-Topalovic, Anne-Sophie Neyroud, Katrina M Bell, Elisabeth Veron-Gastard, Erika Launay, Jocelyn van den Bergen, Bénédicte Nouyou et al.

Molecular Human Reproduction, 2020, 26 (9), pp.665-677.

DOI : https://doi.org/10.1093/molehr/gaaa050

Pubmed : 32634216

 

114 - 

Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility

Sylvie Jaillard, R. Sreenivasan, M. Beaumont, G. Robevska, C. Dubourg, I.M. Knarston, L. Akloul, J. van den Bergen, S. Odent, B. Croft, G. Jouve, S.R. Grover, S. Duros, C. Pimentel, Marc-Antoine Belaud-Rotureau et al.

Maturitas, 2020, 131, 78-86.

DOI : https://doi.org/10.1016/j.maturitas.2019.10.011

Pubmed : 31787151

 

115 - 

Term birthweight and critical windows of prenatal exposure to average meteorological conditions and meteorological variability

Otana Jakpor, Cécile Chevrier, Itai Kloog, Mériem Benmerad, Lise Giorgis-Allemand, Sylvaine Cordier, Emie Seyve, Ana Maria Vicedo-Cabrera, Rémy Slama, Barbara Heude, Joel Schwartz, Johanna Lepeule

Environment International, 2020, 142, 105847.

DOI : https://doi.org/10.1016/j.envint.2020.105847

Pubmed : 32559561

 

116 - 

Use of the COPD Assessment Test (CAT) to screen for COPD in dairy farmers: AIRBAg study

Simon Jan, Marie-Astrid Metten, Anthony Chapron, Solenne Marette, Ange-Marie Robert, Stéphanie Guillot, Carole Mailloux, Stephane Jouneau, Jean-François Viel

Clinical Respiratory Journal, 2020, 14 (9), 813-821.

DOI : https://doi.org/10.1111/crj.13201

Pubmed : 32386451

 

117 - 

Air pollution exposure and bladder, kidney and urinary tract cancer risk: A systematic review

Mohammad Javad Zare Sakhvidi, Emeline Lequy, Marcel Goldberg, Bénédicte Jacquemin

Environmental Pollution, 2020, 267, 115328.

DOI : https://doi.org/10.1016/j.envpol.2020.115328

Pubmed : 32871482

 

118 - 

A single droplet digital PCR for ESR1 activating mutations detection in plasma

Emmanuelle Jeannot, Lauren Darrigues, Marc Michel, Marc Henri Stern, Jean Yves Pierga, Aurore Rampanou, Samia Melaabi, Camille Benoist, Ivan Bièche, Anne Vincent-Salomon, Radouane El Ayachy, Aurélien Noret, Nicolas Epaillard, Luc Cabel, François Clément Bidard et al.

Oncogene, 2020, 39 (14), 2987-2995.

DOI : https://doi.org/10.1038/s41388-020-1174-y

Pubmed : 32042112

 

119 - 

Nuclear accumulation of MKL1 in luminal breast cancer cells impairs genomic activity of ERα and is associated with endocrine resistance

Charly Jehanno, Tamara Fernández-Calero, Denis Habauzit, Stéphane Avner, Frédéric Percevault, Emmanuelle Jullion, Pascale Le Goff, Marie May Coissieux, Simone Muenst, Mónica Marín, Denis Michel, Raphaël Metivier, Gilles Flouriot

Biochimica et Biophysica Acta - Gene Regulatory Mechanisms , 2020, 1863 (5), 194507.

DOI : https://doi.org/10.1016/j.bbagrm.2020.194507

Pubmed : 32113984

 

120 - 

The place of secondary complete cytoreductive surgery in advanced ovarian cancer

Asmar Jennifer, Naoura Iptissem, Revaux Aurélie, Kadhel Philippe, Ayoubi Jean Marc

Hormone Molecular Biology and Clinical Investigation, 2020, 41 (3),

DOI : https://doi.org/10.1515/hmbci-2019-0030

Pubmed : 31782948