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Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.
Salazar-Mendiguchía J, Ochoa JP, Palomino-Doza J, Domínguez F, Díez-López C, Akhtar M, Ramiro-León S, Clemente MM, Pérez-Cejas A, Robledo M, Gómez-Díaz I, Peña-Peña ML, Climent V, Salmerón-Martínez F, Hernández C, García-Granja PE, Mogollón MV, Cárdenas-Reyes I, Cicerchia M, García-Giustiniani D, Lamounier A Jr, Gil-Fournier B, Díaz-Flores F, Salguero R, Santomé L, Syrris P, Olivé M, García-Pavía P, Ortiz-Genga M, Elliott PM, Monserrat L; GENESCOPIC Research Group. Salazar-Mendiguchía J, et al. Heart. 2020 Sep;106(17):1342-1348. doi: 10.1136/heartjnl-2020-316913. Epub 2020 May 25. Heart. 2020. PMID: 32451364 Free PMC article.
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A, Roca I, Díaz-Flores F, Cantarín V, Pérez-Poyato MS, Fontalba A, Laranjeira F, Quintans S, Moldovan O, Felgueroso B, Rodríguez-Pedreira M, Simón R, Camacho A, Quijada P, Ibanez-Mico S, Domingno MR, Benito C, Calvo R, Pérez-Cejas A, Carrasco ML, Ramos F, Couce ML, Ruiz-Falcó ML, Gutierrez-Solana L, Martínez-Atienza M. Fernández-Marmiesse A, et al. Front Neurosci. 2019 Nov 8;13:1135. doi: 10.3389/fnins.2019.01135. eCollection 2019. Front Neurosci. 2019. PMID: 31780880 Free PMC article.
HLA genetic polymorphisms and prognosis of patients with COVID-19.
Lorente L, Martín MM, Franco A, Barrios Y, Cáceres JJ, Solé-Violán J, Perez A, Marcos Y Ramos JA, Ramos-Gómez L, Ojeda N, Jiménez A; Working Group on COVID-19 Canary ICU; Annex. Members of the BIOMEPOC group. Lorente L, et al. Med Intensiva (Engl Ed). 2021 Mar;45(2):96-103. doi: 10.1016/j.medin.2020.08.004. Epub 2020 Sep 6. Med Intensiva (Engl Ed). 2021. PMID: 32988645 Free PMC article.
Patients with high serum substance P levels previously to liver transplantation for hepatocellular carcinoma have higher risk of one-year liver transplantation mortality.
Lorente L, Rodriguez ST, Sanz P, Pérez-Cejas A, Padilla J, Díaz D, González A, Martín MM, Jiménez A, Cerro P, Barrera MA. Lorente L, et al. Oncotarget. 2018 Apr 20;9(30):21552-21559. doi: 10.18632/oncotarget.25097. eCollection 2018 Apr 20. Oncotarget. 2018. PMID: 29765559 Free PMC article.
Association between septic patient mortality and blood survivin concentrations.
Lorente L, Martín MM, Ortiz-López R, Pérez-Cejas A, Ferrer-Moure C, Jiménez A, González-Rivero AF. Lorente L, et al. Among authors: perez cejas a. Med Intensiva (Engl Ed). 2023 Feb;47(2):84-89. doi: 10.1016/j.medine.2021.12.017. Epub 2022 Oct 19. Med Intensiva (Engl Ed). 2023. PMID: 36272905
Association between serum sFasL concentrations and sepsis mortality.
Lorente L, Martín MM, Ortiz-López R, González-Rivero AF, Pérez-Cejas A, Cabrera J, García C, Uribe L, Jiménez A. Lorente L, et al. Infect Dis (Lond). 2021 Jan;53(1):38-43. doi: 10.1080/23744235.2020.1819560. Epub 2020 Sep 18. Infect Dis (Lond). 2021. PMID: 32945711
High mortality rate of septic patients with high blood granzyme B concentrations.
Lorente L, Martín MM, Ortiz-López R, González-Rivero AF, Gómez-Bernal F, González-Mesa A, Jiménez A, Pérez-Cejas A. Lorente L, et al. Diagn Microbiol Infect Dis. 2022 Jul;103(3):115694. doi: 10.1016/j.diagmicrobio.2022.115694. Epub 2022 Mar 24. Diagn Microbiol Infect Dis. 2022. PMID: 35427887
Serum sFasL concentrations and mortality prediction in patients with sepsis.
Lorente L, Martín MM, Ortiz-López R, Pérez-Cejas A, Ferrer-Moure C, González-Mesa A, Jiménez A, González-Rivero AF. Lorente L, et al. Infect Dis (Lond). 2021 Aug;53(8):643-646. doi: 10.1080/23744235.2021.1901982. Epub 2021 Mar 24. Infect Dis (Lond). 2021. PMID: 33760686 No abstract available.
78 results