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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: mekki c. Hum Mutat. 2017 Oct;38(10):1297-1315. doi: 10.1002/humu.23276. Epub 2017 Jun 28. Hum Mutat. 2017. PMID: 28603918
Unsolved severe chronic rhinosinusitis elucidated by extensive CFTR genotyping.
Degrugillier F, Simon S, Aissat A, Remus N, Mekki C, Decrouy X, Hatton A, Hinzpeter A, Hoffmann B, Sermet-Gaudelus I, Callebaut I, Fanen P, Prulière-Escabasse V. Degrugillier F, et al. Among authors: mekki c. Clin Case Rep. 2019 Sep 27;7(11):2128-2134. doi: 10.1002/ccr3.2443. eCollection 2019 Nov. Clin Case Rep. 2019. PMID: 31788264 Free PMC article.
Multiple thrombosis in a patient with Gardos channelopathy and a new KCNN4 mutation.
Mansour-Hendili L, Egée S, Monedero-Alonso D, Bouyer G, Godeau B, Badaoui B, Lunati A, Noizat C, Aissat A, Kiger L, Mekki C, Picard V, Moutereau S, Fanen P, Bartolucci P, Garçon L, Galactéros F, Funalot B. Mansour-Hendili L, et al. Among authors: mekki c. Am J Hematol. 2021 Sep 1;96(9):E318-E321. doi: 10.1002/ajh.26245. Epub 2021 Jun 2. Am J Hematol. 2021. PMID: 34004026 Free article. No abstract available.
Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: description of seven new G6PD mutants.
Moradkhani K, Mekki C, Bahuau M, Te VL, Holder M, Pissard S, Préhu C, Rose C, Wajcman H, Galactéros F. Moradkhani K, et al. Among authors: mekki c. Am J Hematol. 2012 Feb;87(2):208-10. doi: 10.1002/ajh.22218. Epub 2011 Dec 3. Am J Hematol. 2012. PMID: 22139979 Free article.
Amyl nitrite inhalation, a "volatile" anemia.
Filliatre L, Broséus J, Pissard S, Mekki C, Feugier P, Perrin J. Filliatre L, et al. Among authors: mekki c. Am J Hematol. 2016 Jun;91(4):448. doi: 10.1002/ajh.24229. Am J Hematol. 2016. PMID: 26526075 Free article. No abstract available.
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: mekki 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