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2022

International refereed journal articles

11 - 

Aide médicale à la procréation, malformations congénitales et santé postnatale

A. Bouazzaoui, E. Launay, A. Lokchine, C. Quélin, S. Duros, G.-L. Bouar, F. Rouget, François Vialard, S. Odent, M.-A. Belaud-Rotureau, S. Jaillard

Périnatalité, 2022, 14 (2), pp.77-85.

DOI : https://doi.org/10.3166/rmp-2022-0155

 

12 - 

Quality of life and mental health of adolescents and adults with Silver-Russell syndrome

Mélissa Burgevin, Agnès Lacroix, Karine Bourdet, Régis Coutant, Bruno Donadille, Laurence Faivre, Sylvie Manouvrier-Hanu, Florence Petit, Christel Thauvin-Robinet, Annick Toutain, Irène Netchine, Sylvie Odent

European Journal of Medical Genetics, 2022, 65 (5), pp.104482.

DOI : https://doi.org/10.1016/j.ejmg.2022.104482

Pubmed : 35304302

 

13 - 

Trans-Translation Is an Appealing Target for the Development of New Antimicrobial Compounds

Rodrigo Campos-Silva, Gaetano d'Urso, Olivier Delalande, Emmanuel Giudice, Alexandre Jose Macedo, Reynald Gillet

Microorganisms, 2022, 10 (1), pp.3.

DOI : https://doi.org/10.3390/microorganisms10010003

Pubmed : 35056452

 

14 - 

Interactions of organophosphorus pesticides with ATP-Binding Cassette (ABC) drug transporters

Lisa Chedik, Dominique Mias-Lucquin, Olivier Fardel, Olivier Delalande, Arnaud Bruyère

Xenobiotica, 2022, 52 (6), pp.644-652.

DOI : https://doi.org/10.1080/00498254.2022.2128467

Pubmed : 36149323

 

15 - 

DNA methylation episignature in Gabriele-de Vries syndrome

Florian Cherik, Jack Reilly, Jennifer Kerkhof, Michael Levy, Haley Mcconkey, Mouna Barat-Houari, Kameryn M Butler, Christine Coubes, Jennifer A Lee, Gwenael Le Guyader, Raymond J Louie, Wesley G Patterson, Matthew L Tedder, Mads Bak, Trine Bjørg Hammer et al.

Genetics in Medicine, 2022, 24 (4), pp.905-914.

DOI : https://doi.org/10.1016/j.gim.2021.12.003

Pubmed : 35027293

 

16 - 

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

Bertrand Chesneau, Marion Aubert-Mucca, Felix Fremont, Jacmine Pechmeja, Vincent Soler, Bertrand Isidor, Mathilde Nizon, Helene Dollfus, Josseline Kaplan, Lucas Fares-Taie, Jean-Michel Rozet, Tiffany Busa, Didier Lacombe, Sophie Naudion, Jeanne Amiel et al.

Clinical Genetics, 2022, 101 (5-6), pp.494-506.

DOI : https://doi.org/10.1111/cge.14123

Pubmed : 35170016

 

17 - 

Mutation of the proline P81 into a serine modifies the tumour suppressor function of the von Hippel-Lindau gene in the ccRCC

Franck Chesnel, Emmanuelle Jullion, Olivier Delalande, Anne Couturier, Adrien Alusse, Xavier Le Goff, Marion Lenglet, Betty Gardie, Caroline Abadie, Yannick Arlot-Bonnemains

British Journal of Cancer, 2022, 127 (11), pp.1954-1962.

DOI : https://doi.org/10.1038/s41416-022-01985-2

Pubmed : 36175619

 

18 - 

Typical clinical diagnosis and negative first-line molecular results: when genome sequencing and transcriptomics integration helps untangle unexplained rare Mendelian diseases

E Colin, Y Duffourd, P Callier, E Tisserant, T Besnard, A Goldenberg, B Cogne, B Isidor, A Sorlin, S Moutton, J Delanne, A.l Bruel, Ft Mau-Them, As Denomme-Pichon, M Fradin et al.

European Journal of Human Genetics, 2022, 30 (SUPPL 1), pp.356-357.

 

19 - 

OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants

Estelle Colin, Yannis Duffourd, Emilie Tisserant, Raissa Relator, Ange-Line Bruel, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Hana Safraou, Julian Delanne, Nolwenn Jean-Marçais, Boris Keren, Bertrand Isidor, Marie Vincent, Cyril Mignot, Delphine Heron et al.

Frontiers in Cell and Developmental Biology, 2022, 10, pp.1021785.

DOI : https://doi.org/10.3389/fcell.2022.1021785

Pubmed : 36393831

 

20 - 

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance

Amélie Cordovado, Martina Schaettin, Mederic Jeanne, Veranika Panasenkava, Anne‐sophie Denommé‐pichon, Boris Keren, Cyril Mignot, Martine Doco-Fenzy, Lance Rodan, Keri Ramsey, Vinodh Narayanan, Julie R Jones, Eloise J Prijoles, Wendy G Mitchell, Jillian R Ozmore et al.

Human Molecular Genetics, 2022, 31 (19), pp.3325-3340.

DOI : https://doi.org/10.1093/hmg/ddac114

Pubmed : 35604360