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Year Number of Results
2009 3
2010 3
2012 1
2013 1
2015 1
2017 1
2018 1
2020 2
2021 4
2022 2
2023 2
2024 1

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18 results

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Page 1
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, Audrezet MP, Dugueperoux I, Férec C, Lalau G, Pagin A, Kitzis A, Thoreau V, Gaston V, Bieth E, Malinge MC, Reboul MP, Fergelot P, Lemonnier L, Mekki C, Fanen P, Bergougnoux A, Sasorith S, Raynal C, Bareil C. Claustres M, et al. Among authors: theze c. Hum Mutat. 2017 Oct;38(10):1297-1315. doi: 10.1002/humu.23276. Epub 2017 Jun 28. Hum Mutat. 2017. PMID: 28603918
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: theze c. 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.
[Genetic mutation databases: stakes and perspectives for orphan genetic diseases].
Humbertclaude V, Tuffery-Giraud S, Bareil C, Thèze C, Paulet D, Desmet FO, Hamroun D, Baux D, Girardet A, Collod-Béroud G, Khau Van Kien P, Roux AF, des Georges M, Béroud C, Claustres M. Humbertclaude V, et al. Among authors: theze c. Pathol Biol (Paris). 2010 Oct;58(5):387-95. doi: 10.1016/j.patbio.2009.09.008. Epub 2009 Dec 1. Pathol Biol (Paris). 2010. PMID: 19954899 Free article. Review. French.
Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress.
François-Heude MC, Walther-Louvier U, Espil-Taris C, Beze-Beyrie P, Rivier F, Baudou E, Uro-Coste E, Rigau V, Martin Negrier ML, Rendu J, Morales RJ, Pégeot H, Thèze C, Lacourt D, Coville AC, Cossée M, Cances C. François-Heude MC, et al. Among authors: theze c. Eur J Paediatr Neurol. 2021 Mar;31:78-87. doi: 10.1016/j.ejpn.2021.01.011. Epub 2021 Feb 17. Eur J Paediatr Neurol. 2021. PMID: 33667896
The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies.
Perrin A, Juntas Morales R, Rivier F, Cances C, Walther-Louvier U, Van Goethem C, Thèze C, Lacourt D, Pégeot H, Zenagui R, Uro-Coste E, Leboucq N, Malfatti E, Delaby C, Lehmann S, Rigau V, Koenig M, Cossée M. Perrin A, et al. Among authors: theze c. Neuromuscul Disord. 2020 Nov;30(11):877-887. doi: 10.1016/j.nmd.2020.09.032. Epub 2020 Sep 28. Neuromuscul Disord. 2020. PMID: 33127292 Free article.
Novel dominant distal titinopathy phenotype associated with copy number variation.
Perrin A, Juntas Morales R, Chapon F, Thèze C, Lacourt D, Pégeot H, Uro-Coste E, Giovannini D, Leboucq N, Mallaret M, Lagrange E, Rigau V, Gaudon K, Richard P, Koenig M, Métay C, Cossée M. Perrin A, et al. Among authors: theze c. Ann Clin Transl Neurol. 2021 Sep;8(9):1906-1912. doi: 10.1002/acn3.51434. Epub 2021 Jul 27. Ann Clin Transl Neurol. 2021. PMID: 34312993 Free PMC article.
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.
Bergougnoux A, Billet A, Ka C, Heller M, Degrugillier F, Vuillaume ML, Thoreau V, Sasorith S, Bareil C, Thèze C, Ferec C, Gac GL, Bienvenu T, Bieth E, Gaston V, Lalau G, Pagin A, Malinge MC, Dufernez F, Lemonnier L, Koenig M, Fergelot P, Claustres M, Taulan-Cadars M, Kitzis A, Reboul MP, Becq F, Fanen P, Mekki C, Audrezet MP, Girodon E, Raynal C. Bergougnoux A, et al. Among authors: theze c. J Cyst Fibros. 2023 May;22(3):515-524. doi: 10.1016/j.jcf.2022.12.003. Epub 2022 Dec 23. J Cyst Fibros. 2023. PMID: 36567205
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Juntas Morales R, Perrin A, Solé G, Lacourt D, Pegeot H, Walther-Louvier U, Cintas P, Cances C, Espil C, Theze C, Zenagui R, Yauy K, Cosset E, Renard D, Rigau V, Maues de Paula A, Uro-Coste E, Arne-Bes MC, Martin Négrier ML, Leboucq N, Acket B, Malfatti E, Biancalana V, Metay C, Richard P, Rendu J, Rivier F, Koenig M, Cossée M. Juntas Morales R, et al. Among authors: theze c. Genes (Basel). 2021 Jul 31;12(8):1199. doi: 10.3390/genes12081199. Genes (Basel). 2021. PMID: 34440373 Free PMC article.
18 results