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Oral-facio-digital syndrome type I: In the differential diagnosis of autosomic dominant polycystic kidney disease, about three cases.
Martínez Jiménez V, Ortuño López PP, Roca Meroño S, Rodríguez Peña L, Galán Carrillo I, Galbis Martínez L, Ramos Carrasco F, Piñero Hernández JA, González Rodríguez JD, Guillén Navarro E; Unidad Multidisciplinar de Enfermedades Renales Hereditarias de la Región de Murcia (UMERH-RM). Martínez Jiménez V, et al. Among authors: guillen navarro e. Nefrologia (Engl Ed). 2021 Aug 7:S0211-6995(21)00141-7. doi: 10.1016/j.nefro.2021.03.012. Online ahead of print. Nefrologia (Engl Ed). 2021. PMID: 34376309 Free article. English, Spanish. No abstract available.
Oral-facio-digital syndrome type I: In the differential diagnosis of autosomic dominant polycystic kidney disease, about three cases.
Martínez Jiménez V, Ortuño López PP, Roca Meroño S, Rodríguez Peña L, Galán Carrillo I, Galbis Martínez L, Ramos Carrasco F, Piñero Hernández JA, González Rodríguez JD, Guillén Navarro E; Unidad Multidisciplinar de Enfermedades Renales Hereditarias de la Región de Murcia (UMERH-RM). Martínez Jiménez V, et al. Among authors: guillen navarro e. Nefrologia (Engl Ed). 2023 Mar-Apr;43(2):261-263. doi: 10.1016/j.nefroe.2023.06.002. Epub 2023 Jun 14. Nefrologia (Engl Ed). 2023. PMID: 37328341 Free article. No abstract available.
Multidisciplinary management improves the genetic diagnosis of hereditary kidney diseases in the next generation sequencing (NGS) era.
Galán Carrillo I, Galbis Martínez L, Martínez V, Roca Meroño S, Ramos F, González Rodríguez JD, Piñero Fernández J, Guillén Navarro E. Galán Carrillo I, et al. Among authors: guillen navarro e. Nefrologia (Engl Ed). 2024 Jan-Feb;44(1):69-76. doi: 10.1016/j.nefroe.2024.02.002. Epub 2024 Feb 27. Nefrologia (Engl Ed). 2024. PMID: 38418364 Free article.
Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus.
González-Gutiérrez-Solana L, Guillén-Navarro E, Del Toro M, Dalmau J, González-Meneses A, Couce ML. González-Gutiérrez-Solana L, et al. Among authors: guillen navarro e. Medicine (Baltimore). 2018 Jul;97(29):e11246. doi: 10.1097/MD.0000000000011246. Medicine (Baltimore). 2018. PMID: 30024503 Free PMC article.
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene.
Amate-García G, Ballesta-Martínez MJ, Serrano-Lorenzo P, Garrido-Moraga R, González-Quintana A, Blázquez A, Rubio JC, García-Consuegra I, Arenas J, Ugalde C, Morán M, Guillén-Navarro E, Martín MA. Amate-García G, et al. Among authors: guillen navarro e. Int J Mol Sci. 2023 Jan 16;24(2):1743. doi: 10.3390/ijms24021743. Int J Mol Sci. 2023. PMID: 36675256 Free PMC article.
PICO questions and DELPHI methodology for improving the management of patients with acute hepatic porphyria.
Riera-Mestre A, García Morillo JS, Castelbón Fernández J, Hernández-Contreras ME, Aguilera Peiró P, Jacob J, Martínez Valle F, Guillén-Navarro E, Morales-Conejo M. Riera-Mestre A, et al. Among authors: guillen navarro e. Rev Clin Esp (Barc). 2024 May;224(5):272-280. doi: 10.1016/j.rceng.2024.04.010. Epub 2024 Apr 18. Rev Clin Esp (Barc). 2024. PMID: 38642893 Free article.
Skipped BSCL2 Transcript in Celia's Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis.
Sánchez-Iglesias S, Unruh-Pinheiro A, Guillín-Amarelle C, González-Méndez B, Ruiz-Riquelme A, Rodríguez-Cañete BL, Rodríguez-García S, Guillén-Navarro E, Domingo-Jiménez R, Araújo-Vilar D. Sánchez-Iglesias S, et al. Among authors: guillen navarro e. PLoS One. 2016 Jul 8;11(7):e0158874. doi: 10.1371/journal.pone.0158874. eCollection 2016. PLoS One. 2016. PMID: 27391332 Free PMC article.
Whole Blood Transcriptome Analysis in Congenital Anemia Patients.
Sanchez-Villalobos M, Campos Baños E, Martínez-Balsalobre E, Navarro-Ramirez V, Videla MAB, Pinilla M, Guillén-Navarro E, Salido-Fierrez E, Pérez-Oliva AB. Sanchez-Villalobos M, et al. Among authors: guillen navarro e. Int J Mol Sci. 2024 Oct 31;25(21):11706. doi: 10.3390/ijms252111706. Int J Mol Sci. 2024. PMID: 39519257 Free PMC article.
Novel risk loci for COVID-19 hospitalization among admixed American populations.
Diz-de Almeida S, Cruz R, Luchessi AD, Lorenzo-Salazar JM, de Heredia ML, Quintela I, González-Montelongo R, Nogueira Silbiger V, Porras MS, Tenorio Castaño JA, Nevado J, Aguado JM, Aguilar C, Aguilera-Albesa S, Almadana V, Almoguera B, Alvarez N, Andreu-Bernabeu Á, Arana-Arri E, Arango C, Arranz MJ, Artiga MJ, Baptista-Rosas RC, Barreda-Sánchez M, Belhassen-Garcia M, Bezerra JF, Bezerra MAC, Boix-Palop L, Brion M, Brugada R, Bustos M, Calderón EJ, Carbonell C, Castano L, Castelao JE, Conde-Vicente R, Cordero-Lorenzana ML, Cortes-Sanchez JL, Corton M, Darnaude MT, De Martino-Rodríguez A, Del Campo-Pérez V, de Bustamante AD, Domínguez-Garrido E, Eirós R, Fariñas MC, Fernandez-Nestosa MJ, Fernández-Robelo U, Fernández-Rodríguez A, Fernández-Villa T, Gago-Dominguez M, Gil-Fournier B, Gómez-Arrue J, Álvarez BG, Bernaldo de Quirós FG, González-Neira A, González-Peñas J, Gutiérrez-Bautista JF, Herrero MJ, Herrero-Gonzalez A, Jimenez-Sousa MA, Lattig MC, Borja AL, Lopez-Rodriguez R, Mancebo E, Martín-López C, Martín V, Martinez-Nieto O, Martinez-Lopez I, Martinez-Resendez MF, Martinez-Perez A, Mazzeu JF, Macías EM, Minguez P, Cuerda VM, Oliveira SF, Ortega-Paino E, Parellada M, Paz-Artal… See abstract for full author list ➔ Diz-de Almeida S, et al. Among authors: guillen navarro e. Elife. 2024 Oct 3;13:RP93666. doi: 10.7554/eLife.93666. Elife. 2024. PMID: 39361370 Free PMC article.
147 results