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Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.
Lugo-Reyes SO, Pastor N, González-Serrano E, Yamazaki-Nakashimada MA, Scheffler-Mendoza S, Berron-Ruiz L, Wakida G, Nuñez-Nuñez ME, Macias-Robles AP, Staines-Boone AT, Venegas-Montoya E, Alaez-Verson C, Molina-Garay C, Flores-Lagunes LL, Carrillo-Sanchez K, Niemela J, Rosenzweig SD, Gaytan P, Yañez JA, Martinez-Duncker I, Notarangelo LD, Espinosa-Padilla S, Cruz-Munoz ME. Lugo-Reyes SO, et al. J Clin Immunol. 2021 Aug;41(6):1291-1302. doi: 10.1007/s10875-021-01052-0. Epub 2021 May 5. J Clin Immunol. 2021. PMID: 33954879 Free PMC article.
Two novel mutations in ZAP70 gene that result in human immunodeficiency.
Llamas-Guillén BA, Pastor N, López-Herrera G, González-Serrano ME, Valenzuela-Vázquez L, Bravo-Adame ME, Villanueva-Cabello TM, Gaytán P, Yañez J, Martinez-Duncker I, Ruiz-Fernández M, Veillette A, Espinosa-Padilla SE, Cruz-Munoz ME. Llamas-Guillén BA, et al. Clin Immunol. 2017 Oct;183:278-284. doi: 10.1016/j.clim.2017.09.005. Epub 2017 Sep 11. Clin Immunol. 2017. PMID: 28912049 No abstract available.
Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome.
Rigoni R, Fontana E, Dobbs K, Marrella V, Taverniti V, Maina V, Facoetti A, D'Amico G, Al-Herz W, Cruz-Munoz ME, Schuetz C, Gennery AR, Garabedian EK, Giliani S, Draper D, Dbaibo G, Geha RS, Meyts I, Tousseyn T, Neven B, Moshous D, Fischer A, Schulz A, Finocchi A, Kuhns DB, Fink DL, Lionakis MS, Swamydas M, Guglielmetti S, Alejo J, Myles IA, Pittaluga S, Notarangelo LD, Villa A, Cassani B. Rigoni R, et al. J Allergy Clin Immunol. 2020 Nov;146(5):1165-1179.e11. doi: 10.1016/j.jaci.2020.04.005. Epub 2020 Apr 18. J Allergy Clin Immunol. 2020. PMID: 32311393 Free PMC article.
Diagnostic and therapeutic caveats in Griscelli syndrome.
Castaño-Jaramillo LM, Lugo-Reyes SO, Cruz Muñoz ME, Scheffler-Mendoza SC, Duran McKinster C, Yamazaki-Nakashimada MA, Espinosa-Padilla SE, Saez-de-Ocariz Gutierrez MDM. Castaño-Jaramillo LM, et al. Scand J Immunol. 2021 Jun;93(6):e13034. doi: 10.1111/sji.13034. Epub 2021 Mar 20. Scand J Immunol. 2021. PMID: 33660295 Free article. Review.
Correction to: Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.
Lugo-Reyes SO, Pastor N, González-Serrano E, Yamazaki-Nakashimada MA, Scheffler-Mendoza S, Berron-Ruiz L, Wakida G, Nuñez-Nuñez ME, Macias-Robles AP, Staines-Boone AT, Venegas-Montoya E, Alaez-Verson C, Molina-Garay C, Flores-Lagunes LL, Carrillo-Sanchez K, Niemela J, Rosenzweig SD, Gaytan P, Yañez JA, Martinez-Duncker I, Notarangelo LD, Espinosa-Padilla S, Cruz-Munoz ME. Lugo-Reyes SO, et al. J Clin Immunol. 2021 Oct;41(7):1708. doi: 10.1007/s10875-021-01075-7. J Clin Immunol. 2021. PMID: 34136975 No abstract available.
Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG.
González-Domínguez CA, Villarroel CE, Rodríguez-Morales M, Manrique-Hernández S, González-Jaimes A, Olvera-Rodriguez F, Beutelspacher K, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes LL, Jiménez-Olivares M, Muñoz-Rivas A, Cruz-Muñoz ME, Mora-Montes HM, Salinas-Marín R, Alaez-Verson C, Martínez-Duncker I. González-Domínguez CA, et al. Mol Genet Metab Rep. 2021 Jul 2;28:100781. doi: 10.1016/j.ymgmr.2021.100781. eCollection 2021 Sep. Mol Genet Metab Rep. 2021. PMID: 34277356 Free PMC article.
ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.
González-Domínguez CA, Fiesco-Roa MO, Gómez-Carmona S, Kleinert-Altamirano API, He M, Daniel EJP, Raymond KM, Abreu-González M, Manrique-Hernández S, González-Jaimes A, Salinas-Marín R, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes LL, Jiménez-Olivares M, Muñoz-Rivas A, Cruz-Muñoz ME, Ruíz-García M, Freeze HH, Mora-Montes HM, Alaez-Verson C, Martínez-Duncker I. González-Domínguez CA, et al. Among authors: cruz munoz me. Front Genet. 2021 Sep 9;12:744884. doi: 10.3389/fgene.2021.744884. eCollection 2021. Front Genet. 2021. PMID: 34567092 Free PMC article.
Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.
González-Domínguez CA, Fiesco-Roa MO, Gómez-Carmona S, Kleinert-Altamirano API, He M, Daniel EJP, Raymond KM, Abreu-González M, Manrique-Hernández S, González-Jaimes A, Salinas-Marín R, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes LL, Jiménez-Olivares M, Muñoz-Rivas A, Cruz-Muñoz ME, Ruíz-García M, Freeze HH, Mora-Montes HM, Alaez-Verson C, Martínez-Duncker I. González-Domínguez CA, et al. Among authors: cruz munoz me. Front Genet. 2021 Sep 30;12:777731. doi: 10.3389/fgene.2021.777731. eCollection 2021. Front Genet. 2021. PMID: 34659374 Free PMC article.
35 results