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International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.
Nevado J, Ho KS, Zollino M, Blanco R, Cobaleda C, Golzio C, Beaudry-Bellefeuille I, Berrocoso S, Limeres J, Barrúz P, Serrano-Martín C, Cafiero C, Málaga I, Marangi G, Campos-Sánchez E, Moriyón-Iglesias T, Márquez S, Markham L, Twede H, Lortz A, Olson L, Sheng X, Weng C, Wassman ER 3rd, Newcomb T, Wassman ER, Carey JC, Battaglia A, López-Granados E; Wolf-Hirschhorn Spain's Working Group; Douglas D, Lapunzina P. Nevado J, et al. Am J Med Genet A. 2020 Jan;182(1):257-267. doi: 10.1002/ajmg.a.61406. Epub 2019 Nov 25. Am J Med Genet A. 2020. PMID: 31769173
Familial CD45RA- T cells to treat severe refractory infections in immunocompromised patients.
Al-Akioui Sanz K, Echecopar Parente C, Ferreras C, Menéndez Ribes M, Navarro A, Mestre C, Clares L, Vicario JL, Balas A, De Paz R, López Granados E, Sánchez Zapardiel E, Jiménez C, López-Oliva M, Ramos E, Hernández-Oliveros F, Pérez-Martínez A. Al-Akioui Sanz K, et al. Front Med (Lausanne). 2023 Feb 8;10:1083215. doi: 10.3389/fmed.2023.1083215. eCollection 2023. Front Med (Lausanne). 2023. PMID: 36844219 Free PMC article.
Humoral and cellular immune responses to Pfizer-BioNTech BNT162b2 SARS-CoV-2 vaccine in adolescents with liver transplantation: Single center experience.
Sánchez-Zapardiel E, Alós M, Nozal P, González-Muñoz M, Frauca-Remacha E, Gavilán LB, Quiles MJ, Hierro L, López-Granados E. Sánchez-Zapardiel E, et al. Front Immunol. 2022 Nov 23;13:1049188. doi: 10.3389/fimmu.2022.1049188. eCollection 2022. Front Immunol. 2022. PMID: 36505469 Free PMC article.
A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P. Tenorio J, et al. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
Epigenetic Deregulation in Human Primary Immunodeficiencies.
Campos-Sanchez E, Martínez-Cano J, Del Pino Molina L, López-Granados E, Cobaleda C. Campos-Sanchez E, et al. Trends Immunol. 2019 Jan;40(1):49-65. doi: 10.1016/j.it.2018.11.005. Epub 2018 Nov 30. Trends Immunol. 2019. PMID: 30509895 Free article. Review.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two.
Bravo García-Morato M, García-Miñaúr S, Molina Garicano J, Santos Simarro F, Del Pino Molina L, López-Granados E, Ferreira Cerdán A, Rodríguez Pena R. Bravo García-Morato M, et al. Clin Immunol. 2017 Jun;179:77-80. doi: 10.1016/j.clim.2017.03.004. Epub 2017 Mar 14. Clin Immunol. 2017. PMID: 28302518
[Molecular diagnosis of primary immunodeficiencies].
García Rodríguez MC, López Granados E, Cambronero Martínez R, Ferreira Cerdán A, Fontán Casariego G. García Rodríguez MC, et al. Allergol Immunopathol (Madr). 2001 May-Jun;29(3):107-13. doi: 10.1016/s0301-0546(01)79028-3. Allergol Immunopathol (Madr). 2001. PMID: 11434883 Review. Spanish.
94 results