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Quijada-Fraile P, Arranz Canales E, Martin-Hernandez E, Ballesta-Martinez MJ, Guillen-Navarro E, Pintos-Morell G, Molto-Abad M, Moreno-Martinez D, Garcia Morillo S, Blasco-Alonso J, Couce ML, Gil Sanchez R, Cortes-Saladelafont E, Lopez Rodriguez MA, Garcia-Silva MT, Morales Conejo M. Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience. Orphanet J Rare Dis. 2021 Nov 3;16(1):464. doi: 10.1186/s13023-021-02074-y. PubMed PMID: 34732228; PubMed Central PMCID: PMC8565075.
AÑO: 2021
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34732228
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Sanchez-Soler MJ, Serrano-Anton AT, Lopez-Gonzalez V, Guillen-Navarro E. New case with the recurrent c.625G>A pathogenic variant in the PACS2 gene: expanding the phenotype. Neurologia (Engl Ed). 2021 Nov-Dec;36(9):716-719. doi: 10.1016/j.nrleng.2020.11.011. Epub 2021 Jul 10. No abstract available. PubMed PMID: 34253499.
AÑO: 2021
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Riera-Monroig J, Martinez-Romero MDC, Alos L, Guillen-Navarro E, Mascaro JM Jr. Eccrine syringofibroadenoma as a clue for the diagnosis of Schopf-Schulz-Passarge syndrome in acquired palmoplantar keratoderma. J Cutan Pathol. 2020 Oct;47(10):987-989. doi: 10.1111/cup.13743. Epub 2020 Jun 1. No abstract available. PubMed PMID: 32406069.
AÑO: 2020; IF: 1.587
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Esperon-Moldes U, Ginarte-Val M, Rodriguez-Pazos L, Fachal L, Martin-Santiago A, Vicente A, Jimenez-Gallo D, Guillen-Navarro E, Sampol LM, Gonzalez-Ensenat MA, Vega A. Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation. PLoS One. 2020 Feb 18;15(2):e0229025. doi: 10.1371/journal.pone.0229025. eCollection 2020. PubMed PMID: 32069299; PubMed Central PMCID: PMC7028276.
AÑO: 2020; IF: 3.24
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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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