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Page 1
Skewed X-inactivation in a Female Carrier with X-linked Chronic Granulomatous Disease.
López-Hernández I, Deswarte C, Alcantara-Ortigoza MÁ, Saez-de-Ocariz MDM, Yamazaki-Nakashimada MA, Espinosa-Padilla SE, Bustamante J, Blancas-Galicia L. López-Hernández I, et al. Iran J Allergy Asthma Immunol. 2019 Aug 17;18(4):447-451. doi: 10.18502/ijaai.v18i4.1425. Iran J Allergy Asthma Immunol. 2019. PMID: 31522453 Free article. Review.
[An overview of primary immunodeficiency in Mexico].
Coria Ramírez E, Espinosa Padilla S, Espinosa Rosales F, Vargas Camaño ME, Blancas Galicia L. Coria Ramírez E, et al. Rev Alerg Mex. 2010 Sep-Oct;57(5):159-63. Rev Alerg Mex. 2010. PMID: 21854726 Review. Spanish.
[Wiskott-Aldrich syndrome].
Román Jiménez MG, Yamazaki Nakashimada MA, Blancas Galicia L. Román Jiménez MG, et al. Rev Alerg Mex. 2010 Sep-Oct;57(5):171-5. Rev Alerg Mex. 2010. PMID: 21854728 Spanish.
Salmonella vertebral osteitis and sepsis in a girl with interferon gamma pathway deficiency.
Quezada Chalita CT, Blancas Galicìa L, Jannière L, García G, Moncada Velez M, Cienfuegos D, del Río B, Casanova JL, Boisson-Dupuis S, Bustamante J, Lugo Reyes SO. Quezada Chalita CT, et al. J Investig Allergol Clin Immunol. 2012;22(4):289-91. J Investig Allergol Clin Immunol. 2012. PMID: 22812200 Free article. No abstract available.
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
Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.
Moncada-Vélez M, Martinez-Barricarte R, Bogunovic D, Kong XF, Blancas-Galicia L, Tirpan C, Aksu G, Vincent QB, Boisson B, Itan Y, Ramírez-Alejo N, Okada S, Kreins AY, Bryant VL, Franco JL, Migaud M, Espinosa-Padilla S, Yamazaki-Nakashimada M, Espinosa-Rosales F, Kutukculer N, Abel L, Bustamante J, Vogt G, Casanova JL, Boisson-Dupuis S. Moncada-Vélez M, et al. Blood. 2013 Oct 3;122(14):2390-401. doi: 10.1182/blood-2013-01-480814. Epub 2013 Aug 20. Blood. 2013. PMID: 23963039 Free PMC article.
[Wiskott-Aldrich Syndrome: An updated review].
Blancas-Galicia L, Escamilla-Quiroz C, Yamazaki-Nakashimada MA. Blancas-Galicia L, et al. Rev Alerg Mex. 2011 Oct-Dec;58(4):213-8. Rev Alerg Mex. 2011. PMID: 24007832 Review. Spanish.
69 results