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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.
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.
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.
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.
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.
European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.
Fredwall S, AlSayed M, Ben-Omran T, Boero S, Cormier-Daire V, Fauroux B, Guillén-Navarro E, Innig F, Kunkel P, Lampe C, Maghnie M, Mohnike K, Mortier G, Pejin Z, Sessa M, Sousa SB, Irving M. Fredwall S, et al. Among authors: guillen navarro e. Adv Ther. 2024 May 15. doi: 10.1007/s12325-024-02880-3. Online ahead of print. Adv Ther. 2024. PMID: 38748332
143 results