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2022

Articles

11 - 

Aide médicale à la procréation, malformations congénitales et santé postnatale

A. Bouazzaoui, E. Launay, A. Lokchine, C. Quélin, S. Duros et al.

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 et al.

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 et al.

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

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

Pubmed : 35056452

 

14 - 

LA RÉTINOPATHIE DU BORDER COLLIE, UNE MALADIE HÉRÉDITAIRE MAIS UN GÈNE DIFFICILE A ISOLER RETINOPATHY IN THE BORDER COLLIE, AN INHERITED DISEASE BUT A GENE THAT IS DIFFICULT TO MAP

P.G. Chaudieu, P. Quignon

LA RÉTINOPATHIE DU BORDER COLLIE, UNE MALADIE HÉRÉDITAIRE MAIS UN GÈNE DIFFICILE A ISOLER. Bulletin de l'Académie Vétérinaire de France, 2022, 175,

DOI : https://doi.org/10.3406/bavf.2022.71060

 

15 - 

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

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

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

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

Pubmed : 36149323

 

16 - 

DNA methylation episignature in Gabriele-de Vries syndrome

Florian Cherik, Jack Reilly, Jennifer Kerkhof, Michael Levy, Haley Mcconkey et al.

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

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

Pubmed : 35027293

 

17 - 

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 et al.

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

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

Pubmed : 35170016

 

18 - 

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 et al.

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

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

Pubmed : 36175619

 

19 - 

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 et al.

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

 

20 - 

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 et al.

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

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

Pubmed : 36393831