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A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study.
Domínguez-Ruiz M, Murillo-Cuesta S, Contreras J, Cantero M, Garrido G, Martín-Bernardo B, Gómez-Rosas E, Fernández A, Del Castillo FJ, Montoliu L, Varela-Nieto I, Del Castillo I. Domínguez-Ruiz M, et al. Among authors: del castillo fj. BMC Genomics. 2024 Apr 11;25(1):359. doi: 10.1186/s12864-024-10289-z. BMC Genomics. 2024. PMID: 38605287 Free PMC article.
Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects.
Domínguez-Ruiz M, Ruiz-Palmero L, Buonfiglio PI, García-Vaquero I, Gómez-Rosas E, Goñi M, Villamar M, Morín M, Moreno-Pelayo MA, Elgoyhen AB, Del Castillo FJ, Dalamón V, Del Castillo I. Domínguez-Ruiz M, et al. Among authors: del castillo fj. Biomedicines. 2023 Oct 31;11(11):2943. doi: 10.3390/biomedicines11112943. Biomedicines. 2023. PMID: 38001944 Free PMC article.
Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.
Stanescu S, Correcher Medina P, Del Castillo FJ, Alonso Luengo O, Arto Millan LM, Belanger Quintana A, Camprodon Gomez M, Diez Langhetée L, Garcia Campos O, Matas Garcia A, Perez-Moreno J, Rubio Gribble B, Visa-Reñé N, Giraldo-Castellano P, O'Callaghan Gordo M. Stanescu S, et al. Among authors: del castillo fj. Biomedicines. 2023 Oct 22;11(10):2861. doi: 10.3390/biomedicines11102861. Biomedicines. 2023. PMID: 37893235 Free PMC article.
Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia.
Saceda-Corralo D, Ortega-Quijano D, Muñoz-Martín G, Moreno-Arrones ÓM, Pindado-Ortega C, Rayinda T, Melián-Olivera A, Azcárraga-Llobet C, Burgos-Blasco P, Castañeda-Bermúdez ME, Del Castillo FJ, Vañó-Galván S. Saceda-Corralo D, et al. Among authors: del castillo fj. Acta Derm Venereol. 2023 Sep 18;103:adv9604. doi: 10.2340/actadv.v103.9604. Acta Derm Venereol. 2023. PMID: 37721356 Free PMC article.
Development and validation of a sequential two-step algorithm for the screening of individuals with potential polycythaemia vera.
Piris-Villaespesa M, Álvarez-Larrán A, Saez-Marín A, Nuñez-Torrón C, Muñoz-Martin G, Sánchez R, Del Castillo FJ, Villarrubia J, Lopez-Jimenez J, Martinez-Lopez J, Garcia-Gutierrez V. Piris-Villaespesa M, et al. Among authors: del castillo fj. Sci Rep. 2021 Jan 8;11(1):209. doi: 10.1038/s41598-020-80459-y. Sci Rep. 2021. PMID: 33420222 Free PMC article.
Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.
Muñoz G, García-Seisdedos D, Ciubotariu C, Piris-Villaespesa M, Gandía M, Martín-Moro F, Gutiérrez-Solana LG, Morado M, López-Jiménez J, Sánchez-Herranz A, Villarrubia J, Del Castillo FJ. Muñoz G, et al. Among authors: del castillo fj. JIMD Rep. 2019 Dec 1;51(1):53-61. doi: 10.1002/jmd2.12078. eCollection 2020 Jan. JIMD Rep. 2019. PMID: 32071839 Free PMC article.
Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.
Sánchez-Alcudia R, Cortón M, Ávila-Fernández A, Zurita O, Tatu SD, Pérez-Carro R, Fernandez-San Jose P, Lopez-Martinez MÁ, del Castillo FJ, Millan JM, Blanco-Kelly F, García-Sandoval B, Lopez-Molina MI, Riveiro-Alvarez R, Ayuso C. Sánchez-Alcudia R, et al. Among authors: del castillo fj. Invest Ophthalmol Vis Sci. 2014 Oct 23;55(11):7562-71. doi: 10.1167/iovs.14-14938. Invest Ophthalmol Vis Sci. 2014. PMID: 25342620
29 results