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Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis.
Pérez de Diego R, Sancho-Shimizu V, Lorenzo L, Puel A, Plancoulaine S, Picard C, Herman M, Cardon A, Durandy A, Bustamante J, Vallabhapurapu S, Bravo J, Warnatz K, Chaix Y, Cascarrigny F, Lebon P, Rozenberg F, Karin M, Tardieu M, Al-Muhsen S, Jouanguy E, Zhang SY, Abel L, Casanova JL. Pérez de Diego R, et al. Among authors: chaix y. Immunity. 2010 Sep 24;33(3):400-11. doi: 10.1016/j.immuni.2010.08.014. Epub 2010 Sep 9. Immunity. 2010. PMID: 20832341 Free PMC article.
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.
Mignot C, Apartis E, Durr A, Marques Lourenço C, Charles P, Devos D, Moreau C, de Lonlay P, Drouot N, Burglen L, Kempf N, Nourisson E, Chantot-Bastaraud S, Lebre AS, Rio M, Chaix Y, Bieth E, Roze E, Bonnet I, Canaple S, Rastel C, Brice A, Rötig A, Desguerre I, Tranchant C, Koenig M, Anheim M. Mignot C, et al. Among authors: chaix y. Orphanet J Rare Dis. 2013 Oct 28;8:173. doi: 10.1186/1750-1172-8-173. Orphanet J Rare Dis. 2013. PMID: 24164873 Free PMC article.
Effect of desipramine on patients with breathing disorders in RETT syndrome.
Mancini J, Dubus JC, Jouve E, Roux JC, Franco P, Lagrue E, Castelnau P, Cances C, Chaix Y, Rougeot-Jung C, Cornu C, Desportes V, Vallée L, Bahi-Buisson N, Truillet R, Attolini L, Villard L, Blin O, Micallef J. Mancini J, et al. Among authors: chaix y. Ann Clin Transl Neurol. 2017 Dec 27;5(2):118-127. doi: 10.1002/acn3.468. eCollection 2018 Feb. Ann Clin Transl Neurol. 2017. PMID: 29468173 Free PMC article.
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
Sabourdy F, Mourey L, Le Trionnaire E, Bednarek N, Caillaud C, Chaix Y, Delrue MA, Dusser A, Froissart R, Garnotel R, Guffon N, Megarbane A, Ogier de Baulny H, Pédespan JM, Pichard S, Valayannopoulos V, Verloes A, Levade T. Sabourdy F, et al. Among authors: chaix y. Orphanet J Rare Dis. 2015 Mar 15;10:31. doi: 10.1186/s13023-015-0244-7. Orphanet J Rare Dis. 2015. PMID: 25885655 Free PMC article.
At-risk phenotype of neurofibromatose-1 patients: a multicentre case-control study.
Sbidian E, Bastuji-Garin S, Valeyrie-Allanore L, Ferkal S, Lefaucheur JP, Drouet A, Brugière P, Vialette C, Combemale P, Barbarot S, Wolkenstein P; NF France Network. Sbidian E, et al. Orphanet J Rare Dis. 2011 Jul 13;6:51. doi: 10.1186/1750-1172-6-51. Orphanet J Rare Dis. 2011. PMID: 21752287 Free PMC article.
[Clear cell meningioma: recurrent intraspinal tumor in a child].
Cancès C, Chaix Y, Karsenty C, Boetto S, Sévely A, Delisle MB, Carrière JP. Cancès C, et al. Among authors: chaix y. Arch Pediatr. 1998 Jul;5(7):758-62. doi: 10.1016/s0929-693x(98)80062-6. Arch Pediatr. 1998. PMID: 9759276 French.
112 results