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RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.
Benkirane M, Da Cunha D, Marelli C, Larrieu L, Renaud M, Varilh J, Pointaux M, Baux D, Ardouin O, Vangoethem C, Taulan M, Daumas Duport B, Bergougnoux A, Corbillé AG, Cossée M, Juntas Morales R, Tuffery-Giraud S, Koenig M, Isidor B, Vincent MC. Benkirane M, et al. Among authors: bergougnoux a. Brain. 2022 Nov 21;145(11):3770-3775. doi: 10.1093/brain/awac280. Brain. 2022. PMID: 35883251
CCSP G38A polymorphism environment interactions regulate CCSP levels differentially in COPD.
Knabe L, Varilh J, Bergougnoux A, Gamez AS, Bonini J, Pommier A, Petit A, Molinari N, Vachier I, Taulan-Cadars M, Bourdin A. Knabe L, et al. Among authors: bergougnoux a. Am J Physiol Lung Cell Mol Physiol. 2016 Oct 1;311(4):L696-L703. doi: 10.1152/ajplung.00280.2016. Epub 2016 Aug 5. Am J Physiol Lung Cell Mol Physiol. 2016. PMID: 27496897 Free article.
Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene.
Bergougnoux A, Délétang K, Pommier A, Varilh J, Houriez F, Altieri JP, Koenig M, Férec C, Claustres M, Lalau G, Bienvenu T, Audrézet MP, Pagin A, Girodon E, Raynal C, Taulan-Cadars M. Bergougnoux A, et al. J Cyst Fibros. 2019 Jul;18(4):468-475. doi: 10.1016/j.jcf.2018.10.012. Epub 2018 Oct 30. J Cyst Fibros. 2019. PMID: 30389601 Free article.
MobiDetails: online DNA variants interpretation.
Baux D, Van Goethem C, Ardouin O, Guignard T, Bergougnoux A, Koenig M, Roux AF. Baux D, et al. Among authors: bergougnoux a. Eur J Hum Genet. 2021 Feb;29(2):356-360. doi: 10.1038/s41431-020-00755-z. Epub 2020 Nov 7. Eur J Hum Genet. 2021. PMID: 33161418 Free PMC article.
Correction: MobiDetails: online DNA variants interpretation.
Baux D, Van Goethem C, Ardouin O, Guignard T, Bergougnoux A, Koenig M, Roux AF. Baux D, et al. Among authors: bergougnoux a. Eur J Hum Genet. 2021 Feb;29(2):361. doi: 10.1038/s41431-020-00789-3. Eur J Hum Genet. 2021. PMID: 33303978 Free PMC article. No abstract available.
Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains.
Perrin A, Van Goethem C, Thèze C, Puechberty J, Guignard T, Lecardonnel B, Lacourt D, Métay C, Isapof A, Whalen S, Ferreiro A, Arne-Bes MC, Quijano-Roy S, Nectoux J, Leturcq F, Richard P, Larrieux M, Bergougnoux A, Pellestor F, Koenig M, Cossée M. Perrin A, et al. Among authors: bergougnoux a. J Mol Diagn. 2022 Jul;24(7):719-726. doi: 10.1016/j.jmoldx.2022.04.006. Epub 2022 May 14. J Mol Diagn. 2022. PMID: 35580751 Free article.
43 results