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Page 1
Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.
Oleaga-Quintas C, de Oliveira-Júnior EB, Rosain J, Rapaport F, Deswarte C, Guérin A, Sajjath SM, Zhou YJ, Marot S, Lozano C, Branco L, Fernández-Hidalgo N, Lew DB, Brunel AS, Thomas C, Launay E, Arias AA, Cuffel A, Monjo VC, Neehus AL, Marques L, Roynard M, Moncada-Vélez M, Gerçeker B, Colobran R, Vigué MG, Lopez-Herrera G, Berron-Ruiz L, Méndez NHS, O'Farrill Romanillos P, Le Voyer T, Puel A, Bellanné-Chantelot C, Ramirez KA, Lorenzo-Diaz L, Alejo NR, de Diego RP, Condino-Neto A, Mellouli F, Rodriguez-Gallego C, Witte T, Restrepo JF, Jobim M, Boisson-Dupuis S, Jeziorski E, Fieschi C, Vogt G, Donadieu J, Pasquet M, Vasconcelos J, Ardeniz FO, Martínez-Gallo M, Campos RA, Jobim LF, Martínez-Barricarte R, Liu K, Cobat A, Abel L, Casanova JL, Bustamante J. Oleaga-Quintas C, et al. Among authors: de oliveira junior eb. J Clin Immunol. 2021 Apr;41(3):639-657. doi: 10.1007/s10875-020-00930-3. Epub 2021 Jan 8. J Clin Immunol. 2021. PMID: 33417088 Free PMC article.
High-performance liquid chromatography under partially denaturing conditions (dHPLC) is a fast and cost-effective method for screening molecular defects: four novel mutations found in X-linked chronic granulomatous disease.
de Oliveira-Junior EB, Prando C, Lopez JA, Arango JC, Buzolin M, Rehder J, Pedroza LA, Frazão JB, Dantas VM, Roxo-Junior P, Grumach AS, Costa-Carvalho BT, Bustamante J, Condino-Neto A. de Oliveira-Junior EB, et al. Scand J Immunol. 2012 Aug;76(2):158-66. doi: 10.1111/j.1365-3083.2012.02714.x. Scand J Immunol. 2012. PMID: 22540226 Free article.
Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry.
de Oliveira-Junior EB, Zurro NB, Prando C, Cabral-Marques O, Pereira PV, Schimke LF, Klaver S, Buzolin M, Blancas-Galicia L, Santos-Argumedo L, Pietropaolo-Cienfuegos DR, Espinosa-Rosales F, King A, Sorensen R, Porras O, Roxo-Junior P, Forte WC, Orellana JC, Lozano A, Galicchio M, Regairaz L, Grumach AS, Costa-Carvalho BT, Bustamante J, Bezrodnik L, Oleastro M, Danielian S, Condino-Neto A. de Oliveira-Junior EB, et al. Pediatr Blood Cancer. 2015 Dec;62(12):2101-7. doi: 10.1002/pbc.25674. Epub 2015 Jul 15. Pediatr Blood Cancer. 2015. PMID: 26185101 Clinical Trial.
A Novel Mutation in the NCF2 Gene in a CGD Patient With Chronic Recurrent Pneumopathy.
de Albuquerque JAT, Lima AM, de Oliveira Junior EB, Ishizuka EK, Aragão-Filho WC, Bengala Zurro N, Mayumi Chiba S, Fernandes FR, Condino-Neto A. de Albuquerque JAT, et al. Among authors: de oliveira junior eb. Front Pediatr. 2019 Sep 27;7:391. doi: 10.3389/fped.2019.00391. eCollection 2019. Front Pediatr. 2019. PMID: 31612120 Free PMC article.