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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. Skipped BSCL2 Transcript in Celia's Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis. PLoS One. 2016 Jul 8;11(7):e0158874. doi: 10.1371/journal.pone.0158874. eCollection 2016. PubMed PMID: 27391332; PubMed Central PMCID: PMC4938205.
AÑO: 2016; IF: 2.806
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27391332
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Palencia-Campos A, Martinez-Fernandez ML, Altunoglu U, Soto-Bielicka P, Torres A, Marin P, Aller E, Senturk L, Berkoz O, Yildiran M, Kayserili H, Gil-Camarero E, Colli-Lista G, Sanchis-Calvo A, Carretero A; ECEMC Working Group on Polydactyly; Guillen-Navarro E, Lopez-Gonzalez V, Ballesta-Martinez M, Rosell J, Aglan MS, Temtamy S, Otaify GA, Cuevas-Catalina L, Torres-Saavedra MN, Nevado J, Tenorio J, Lapunzina P, Bermejo-Sanchez E, Ruiz-Perez VL. Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B. Hum Mutat. 2020 Jan;41(1):265-276. doi: 10.1002/humu.23921. Epub 2019 Nov 6. PubMed PMID: 31549748.
AÑO: 2020; IF: 4.878
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Sanchez-Soler MJ, Serrano-Anton AT, Lopez-Gonzalez V, Ballesta Martinez MJ, Guillen-Navarro E. [First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by balletic mutations in the OTUD6B gene]. An Pediatr (Engl Ed). 2020 Mar;92(3):169-171. doi: 10.1016/j.anpedi.2019.03.010. Epub 2019 May 27. No abstract available. Spanish. PubMed PMID: 31147255.
AÑO: 2020; IF: 1.5
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Fernández-Barreiro A, Guillén-Navarro E, Tortosa-Conesa D, Meca-Lallana JE. [The current state of acute intermittent porphyria in the region of Murcia]. Rev Neurol. 2004 May 1-15;38(9):895-6. Spanish. PubMed PMID: 15152361.
AÑO: 2004; IF: 0.485
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Shears DJ, Guillen-Navarro E, Sempere-Miralles M, Domingo-Jimenez R, Scambler PJ, Winter RM. Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation. Am J Med Genet. 2002 Jun 15;110(2):153-7. PubMed PMID: 12116253.
AÑO: 2002
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