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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: roux buisson n. Front Immunol. 2021 Mar 5;12:639226. doi: 10.3389/fimmu.2021.639226. eCollection 2021. Front Immunol. 2021. PMID: 33746979 Free PMC article.
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: roux buisson n. 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.
Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome.
Le Tanno P, Folacci M, Revilloud J, Faivre L, Laurent G, Pinson L, Amedro P, Millat G, Janin A, Vivaudou M, Roux-Buisson N, Fauré J. Le Tanno P, et al. Among authors: roux buisson n. Front Genet. 2021 Nov 25;12:773177. doi: 10.3389/fgene.2021.773177. eCollection 2021. Front Genet. 2021. PMID: 34899860 Free PMC article.
Challenging indication of cardioverter defibrillator implantation after sudden cardiac arrest in the very young: a case series of catecholaminergic polymorphic ventricular tachycardia secondary to de novo calmodulin p.Asn98Ser.
Maltret A, Benaich FA, Rendu J, Fressart V, Roux-Buisson N, Bonnet D, Denjoy I. Maltret A, et al. Among authors: roux buisson n. Eur Heart J Case Rep. 2021 Oct 5;5(10):ytab393. doi: 10.1093/ehjcr/ytab393. eCollection 2021 Oct. Eur Heart J Case Rep. 2021. PMID: 34729453 Free PMC article.
Variations in the TRPV1 gene are associated to exertional heat stroke.
Bosson C, Rendu J, Pelletier L, Abriat A, Chatagnon A, Brocard J, Brocard J, Figarella-Branger D, Ducreux S, van Coppenolle F, Sagui E, Marty I, Roux-Buisson N, Faure J. Bosson C, et al. Among authors: roux buisson n. J Sci Med Sport. 2020 Nov;23(11):1021-1027. doi: 10.1016/j.jsams.2020.04.018. Epub 2020 May 18. J Sci Med Sport. 2020. PMID: 32471784
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.
Witting N, Laforêt P, Voermans NC, Roux-Buisson N, Bompaire F, Rendu J, Duno M, Feillet F, Kamsteeg EJ, Poulsen NS, Dahlqvist JR, Romero NB, Fauré J, Vissing J, Behin A. Witting N, et al. Among authors: roux buisson n. Acta Neurol Scand. 2018 May;137(5):452-461. doi: 10.1111/ane.12885. Epub 2017 Dec 29. Acta Neurol Scand. 2018. PMID: 29635721
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