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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. PLoS One. 2016 Jul 8;11(7):e0158874. doi: 10.1371/journal.pone.0158874. eCollection 2016. PLoS One. 2016. PMID: 27391332 Free PMC article.
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. 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.
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.
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. Int J Mol Sci. 2023 Jan 16;24(2):1743. doi: 10.3390/ijms24021743. Int J Mol Sci. 2023. PMID: 36675256 Free PMC article.
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. 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.
Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity.
Cabrera-Alarcon JL, Cruz R, Rosa-Moreno M, Latorre-Pellicer A, de Almeida SD; Scourge Cohort Group; Riancho JA, Rojas-Martinez A, Flores C, Lapunzina P, Sánchez-Cabo F, Carracedo Á, Enriquez JA. Cabrera-Alarcon JL, et al. Commun Biol. 2025 Jan 9;8(1):33. doi: 10.1038/s42003-024-07314-y. Commun Biol. 2025. PMID: 39789223 Free PMC article.
Population-based genetic carrier screening. A consensus statement from the Spanish societies: AEGH, AEDP, ASEBIR, SEAGEN, SEF and SEGCD.
Vendrell X, Abulí A, Serra C, Guillén JJ, Rueda J, García-Planells J, Santos-Simarro F, Quiroga R, Abellán F, Oancea-Ionescu R, Guillén-Navarro E. Vendrell X, et al. Among authors: guillen navarro e. Eur J Hum Genet. 2024 Dec 2. doi: 10.1038/s41431-024-01751-3. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39623216 Review.
150 results