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Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.
de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, Al-Muhsen S, Jannière L, Rose Y, de Suremain M, Kong XF, Filipe-Santos O, Chapgier A, Picard C, Fischer A, Dogu F, Ikinciogullari A, Tanir G, Al-Hajjar S, Al-Jumaah S, Frayha HH, AlSum Z, Al-Ajaji S, Alangari A, Al-Ghonaium A, Adimi P, Mansouri D, Ben-Mustapha I, Yancoski J, Garty BZ, Rodriguez-Gallego C, Caragol I, Kutukculer N, Kumararatne DS, Patel S, Doffinger R, Exley A, Jeppsson O, Reichenbach J, Nadal D, Boyko Y, Pietrucha B, Anderson S, Levin M, Schandené L, Schepers K, Efira A, Mascart F, Matsuoka M, Sakai T, Siegrist CA, Frecerova K, Blüetters-Sawatzki R, Bernhöft J, Freihorst J, Baumann U, Richter D, Haerynck F, De Baets F, Novelli V, Lammas D, Vermylen C, Tuerlinckx D, Nieuwhof C, Pac M, Haas WH, Müller-Fleckenstein I, Fleckenstein B, Levy J, Raj R, Cohen AC, Lewis DB, Holland SM, Yang KD, Wang X, Wang X, Jiang L, Yang X, Zhu C, Xie Y, Lee PPW, Chan KW, Chen TX, Castro G, Natera I, Codoceo A, King A, Bezrodnik L, Di Giovani D, Gaillard MI, de Moraes-Vasconcelos D, Grumach AS, da Silva Duarte AJ, Aldana R, Espinosa-Rosales FJ, Bejaoui M, Bousfiha AA, Baghdadi JE, Özbek N, Aksu G, K… See abstract for full author list ➔ de Beaucoudrey L, et al. Among authors: yancoski j. Medicine (Baltimore). 2010 Nov;89(6):381-402. doi: 10.1097/MD.0b013e3181fdd832. Medicine (Baltimore). 2010. PMID: 21057261 Free PMC article.
A missense mutation in the extracellular domain of Fas: the most common change in Argentinean patients with autoimmune lymphoproliferative syndrome represents a founder effect.
Simesen de Bielke MG, Yancoski J, Rocco C, Pérez LE, Cantisano C, Pérez N, Oleastro M, Danielian S. Simesen de Bielke MG, et al. Among authors: yancoski j. J Clin Immunol. 2012 Dec;32(6):1197-203. doi: 10.1007/s10875-012-9731-y. Epub 2012 Jul 3. J Clin Immunol. 2012. PMID: 22752343
Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.
Kagawa R, Fujiki R, Tsumura M, Sakata S, Nishimura S, Itan Y, Kong XF, Kato Z, Ohnishi H, Hirata O, Saito S, Ikeda M, El Baghdadi J, Bousfiha A, Fujiwara K, Oleastro M, Yancoski J, Perez L, Danielian S, Ailal F, Takada H, Hara T, Puel A, Boisson-Dupuis S, Bustamante J, Casanova JL, Ohara O, Okada S, Kobayashi M. Kagawa R, et al. Among authors: yancoski j. J Allergy Clin Immunol. 2017 Jul;140(1):232-241. doi: 10.1016/j.jaci.2016.09.035. Epub 2016 Dec 20. J Allergy Clin Immunol. 2017. PMID: 28011069 Free PMC article.
Cancer Prevalence in Children with Inborn Errors of Immunity: Report from a Single Institution.
Mitchell MR, Urdinez L, Bernasconi AR, Danielian S, Katsikas MM, Sajaroff EO, Roffé G, Villa NM, Galluzzo L, Sanz M, Palma AM, Bouso C, Prieto E, Goris V, Yancoski J, Rosenzweig SD, Oleastro M, Rosé A, Cacciavillano W, Felizzia G, Guitter M, Sánchez La Rosa C, Ríos M, Zubizarreta P, Felice MS, Rossi JG. Mitchell MR, et al. Among authors: yancoski j. J Clin Immunol. 2024 May 28;44(6):138. doi: 10.1007/s10875-024-01736-3. J Clin Immunol. 2024. PMID: 38805138
[Microsporum gypseum dermatophytosis in a child with primary immunodeficiency].
Stefano PC, Velasquez LA, Berberian G, Simonetti E, Palma A, Álvarez M, Yancoski J, Bernasconi A, Oleastro M, Cervini AB. Stefano PC, et al. Among authors: yancoski j. Arch Argent Pediatr. 2022 Jun;120(3):e128-e132. doi: 10.5546/aap.2022.e128. Arch Argent Pediatr. 2022. PMID: 35533125 Free article. Spanish.
12 results