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Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.
Martel C, Mollin M, Beaumel S, Brion JP, Coutton C, Satre V, Vieville G, Callanan M, Lefebvre C, Salmon A, Pagnier A, Plantaz D, Bost-Bru C, Eitenschenck L, Durieu I, Floret D, Galambrun C, Chambost H, Michel G, Stephan JL, Hermine O, Blanche S, Blot N, Rubié H, Pouessel G, Drillon-Haus S, Conrad B, Posfay-Barbe KM, Havlicekova Z, Voskresenky-Baricic T, Jadranka K, Arriazu MC, Garcia LA, Sfaihi L, Bordigoni P, Stasia MJ. Martel C, et al. Among authors: beaumel s. J Clin Immunol. 2012 Oct;32(5):942-58. doi: 10.1007/s10875-012-9698-8. Epub 2012 May 5. J Clin Immunol. 2012. PMID: 22562447
Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants - identification of 11 novel mutations in CYBB.
Mollin M, Beaumel S, Vigne B, Brault J, Roux-Buisson N, Rendu J, Barlogis V, Catho G, Dumeril C, Fouyssac F, Monnier D, Gandemer V, Revest M, Brion JP, Bost-Bru C, Jeziorski E, Eitenschenck L, Jarrasse C, Drillon Haus S, Houachée-Chardin M, Hancart M, Michel G, Bertrand Y, Plantaz D, Kelecic J, Traberg R, Kainulainen L, Fauré J, Fieschi F, Stasia MJ. Mollin M, et al. Among authors: beaumel s. Clin Exp Immunol. 2021 Feb;203(2):247-266. doi: 10.1111/cei.13520. Epub 2020 Oct 12. Clin Exp Immunol. 2021. PMID: 32954498 Free PMC article.
Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq.
Bakri FG, Mollin M, Beaumel S, Vigne B, Roux-Buisson N, Al-Wahadneh AM, Alzyoud RM, Hayajneh WA, Daoud AK, Shukair MEA, Karadshe MF, Sarhan MM, Al-Ramahi JAW, Fauré J, Rendu J, Stasia MJ. Bakri FG, et al. Among authors: beaumel s. Front Immunol. 2021 Mar 5;12:639226. doi: 10.3389/fimmu.2021.639226. eCollection 2021. Front Immunol. 2021. PMID: 33746979 Free PMC article.
18 results