Publicaciones

Publicaciones con mención al CIBERER Biobank


Mollá B, Muñoz-Lasso DC, Calap P, Fernandez-Vilata A, de la Iglesia-Vaya M, Pallardó FV, Moltó MD, Palau F, Gonzalez-Cabo P. Phosphodiesterase Inhibitors Revert Axonal Dystrophy in Friedreich's Ataxia Mouse Model. 2019. Neurotherapeutics.

Rubio-Solsona E, Martí S, Vílchez JJ, Palau F, Hoenicka J. ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism. 2018. PLoS One.

García-Giménez JL, Rubio-Belmar PA, Peiró-Chova L, Hervás D, González-Rodríguez D, Ibañez-Cabellos JS, Bas-Hermida P, Mena-Mollá S, García-López EM, Pallardó FV, Bas T. Circulating miRNAs as diagnostic biomarkers for adolescent idiopathic scoliosis. 2018. Sci Rep.

Seco-Cervera M, González-Rodríguez D, Ibáñez-Cabellos JS, Peiró-Chova L, Pallardó FV, García-Giménez JL Data Descriptor: Small RNA-seq analysis of circulating miRNAs to identify phenotypic variability in Friedreich’s ataxia patients. 2018. Scientific Data - Nature.

Consuegra I, Rodríguez-Aierbe C, Santiuste I, Bosch A, Martínez-Marín R, Fortuto MA, Díaz T, Martí S, Muñoz-Fernández MÁ. Isolation Methods of Peripheral Blood Mononuclear Cells in Spanish Biobanks: An Overview. 2017. Biopreserv Biobank.

Seco-Cervera M, González-Rodríguez D, Ibáñez-Cabellos JS, Peiró-Chova L, González-Cabo P, García-López E, Vílchez JJ, Sanz-Gallego I, Pallardó FV, García-Giménez JL. Circulating miR-323-3p is a biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich's ataxia patients. 2017. Sci Rep.

Martí S, León M, Orellana C, Prieto J, Ponsoda X, López-García C, Vílchez JJ, Sevilla T, Torres J. Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene. 2017. Stem Cell Res.

Urreizti R, Cueto-Gonzalez AM, Franco-Valls H, Mort-Farre S, Roca-Ayats N, Ponomarenko J, Cozzuto L, Company C, Bosio M, Ossowski S, Montfort M, Hecht J, Tizzano EF, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg D, Balcells S. A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. 2017. Sci Rep.

Publicaciones de usuarios con muestras del CIBERER Biobank

Sanchez-Alcudia R, Garcia-Hoyos M, Lopez-Martinez MA, Sanchez-Bolivar N, Zurita O, Gimenez A, Villaverde C, Rodrigues-Jacy da Silva L, Corton M, Perez-Carro R, Torriano S, Kalatzis V, Rivolta C, Avila-Fernandez A, Lorda I, Trujillo-Tiebas MJ, Garcia-Sandoval B, Lopez-Molina MI, Blanco-Kelly F, Riveiro-Alvarez R, Ayuso C. A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice. 2016. PLoS One

Perez-Carro R, Corton M, Sánchez-Navarro I, Zurita O, Sanchez-Bolivar N, Sánchez-Alcudia R, Lelieveld SH, Aller E, Lopez-Martinez MA, López-Molina MI, Fernandez-San Jose P, Blanco-Kelly F, Riveiro-Alvarez R, Gilissen C, Millan JM, Avila-Fernandez A, Ayuso C. Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa. 2016. Scientific Reports - Nature

Sevilla T, Lupo V, Martínez-Rubio D, Sancho P, Sivera R, Chumillas MJ, García-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, Vílchez JJ, Palau F, Espinós C. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. 2016 Brain

Corton M, Nishiguchi KM, Avila-Fernández A, Nikopoulos K, Riveiro-Alvarez R, Tatu SD, Ayuso C, Rivolta C. Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis. 2016 PLoS One.

Álvarez R, Xie YA, López-Martínez MÁ, Gambin T, Pérez-Carro R, ÁvilaFernández A, López-Molina MI, Zernant J, Jhangiani S, Muzny D, Yuan B, Boerwinkle E, Gibbs R, Lupski JR, Ayuso C, Allikmets R. New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. 2015 JAMA Ophthalmology

Fernandez-San Jose P, Corton M, Blanco-Kelly F, Avila-Fernandez A, Lopez-Martinez MA, Sanchez-Navarro I, Sanchez-Alcudia R, PerezCarro R, Zurita O, Sanchez-Bolivar N, LopezMolina MI, Garcia-Sandoval B, RiveiroAlvarez R, Ayuso C. Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients. 2015 Investigative Ophthalmology and Visual Science Riveiro

Avila-Fernandez A, Perez-Carro R, Corton M, Lopez-Molina MI, Campello L, Garanto A, Fernandez-Sanchez L, Duijkers L, LopezMartinez MA, Riveiro-Alvarez R, Da Silva LR, Sanchez-Alcudia R, Martin-Garrido E, Reyes N, Garcia-Garcia F, Dopazo J, Garcia-Sandoval B, Collin RW, Cuenca N, Ayuso C. Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations. 2015 Hum Mol Genet 5