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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.
IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.
van de Vosse E, Haverkamp MH, Ramirez-Alejo N, Martinez-Gallo M, Blancas-Galicia L, Metin A, Garty BZ, Sun-Tan Ç, Broides A, de Paus RA, Keskin Ö, Çağdaş D, Tezcan I, Lopez-Ruzafa E, Aróstegui JI, Levy J, Espinosa-Rosales FJ, Sanal Ö, Santos-Argumedo L, Casanova JL, Boisson-Dupuis S, van Dissel JT, Bustamante J. van de Vosse E, et al. Hum Mutat. 2013 Oct;34(10):1329-39. doi: 10.1002/humu.22380. Epub 2013 Aug 8. Hum Mutat. 2013. PMID: 23864330 Free PMC article. Review.
Molecular analysis for patients with IL-12 receptor β1 deficiency.
Ramirez-Alejo N, Blancas-Galicia L, Yamazaki-Nakashimada M, García-Rodríguez SE, Rivas-Larrauri F, Paolo-Cienfuegos DP, Alcantara-Salinas A, Espinosa-Rosales F, Santos-Argumedo L. Ramirez-Alejo N, et al. Clin Genet. 2014 Aug;86(2):161-6. doi: 10.1111/cge.12253. Epub 2013 Sep 11. Clin Genet. 2014. PMID: 23952477
First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes.
Cabral-Marques O, Klaver S, Schimke LF, Ascendino ÉH, Khan TA, Pereira PV, Falcai A, Vargas-Hernández A, Santos-Argumedo L, Bezrodnik L, Moreira I, Seminario G, Di Giovanni D, Raccio AG, Porras O, Weber CW, Ferreira JF, Tavares FS, de Carvalho E, Valente CF, Kuntze G, Galicchio M, King A, Rosário-Filho NA, Grota MB, dos Santos Vilela MM, Di Gesu RS, Lima S, de Souza Moura L, Talesnik E, Mansour E, Roxo-Junior P, Aldave JC, Goudouris E, Pinto-Mariz F, Berrón-Ruiz L, Staines-Boone T, Calderón WO, del Carmen Zarate-Hernández M, Grumach AS, Sorensen R, Durandy A, Torgerson TR, Carvalho BT, Espinosa-Rosales F, Ochs HD, Condino-Neto A. Cabral-Marques O, et al. J Clin Immunol. 2014 Feb;34(2):146-56. doi: 10.1007/s10875-013-9980-4. Epub 2014 Jan 9. J Clin Immunol. 2014. PMID: 24402618
Detection of inheritance pattern in thirty-three Mexican males with chronic granulomatous disease through 123 dihydrorhodamine assay.
Berrón-Ruiz L, Morín-Contreras A, Cano-García V, Yamazaki-Nakashimada MA, Gómez-Tello H, Vargas-Camaño ME, Canseco-Raymundo R, Saracho-Weber F, Pietropaolo-Cienfuegos D, Del Río-Navarro B, Staines-Boone T, Espinosa-Rosales F, González-Del Ángel A, Saenz-de-Ocaris MM, Pacheco-Rosas D, Espinosa-Padilla S, Santos-Argumedo L, Blancas-Galicia L. Berrón-Ruiz L, et al. Allergol Immunopathol (Madr). 2014 Nov-Dec;42(6):580-5. doi: 10.1016/j.aller.2013.07.014. Epub 2014 Jun 2. Allergol Immunopathol (Madr). 2014. PMID: 24890515
139 results