| Hypo-and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability C Medina-Trillo, F Sánchez-Sánchez, JD Aroca-Aguilar, ... PLoS One 10 (3), e0119272, 2015 | 36 | 2015 |
| Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial … JJ Ferre-Fernández, JD Aroca-Aguilar, C Medina-Trillo, ... Scientific Reports 7 (1), 46175, 2017 | 28 | 2017 |
| Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial … JJ Ferre-Fernández, JD Aroca-Aguilar, C Medina-Trillo, ... Scientific Reports 7 (1), 46175, 2017 | 28 | 2017 |
| CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix JM Bonet-Fernández, JD Aroca-Aguilar, M Corton, AI Ramírez, ... Human genetics 139 (10), 1209-1231, 2020 | 24 | 2020 |
| Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma C Medina-Trillo, JD Aroca-Aguilar, JJ Ferre-Fernández, ... PloS one 14 (1), e0211029, 2019 | 18 | 2019 |
| Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome JJ Ferre-Fernández, EA Sorokina, S Thompson, RF Collery, E Nordquist, ... Human Molecular Genetics 29 (16), 2723-2735, 2020 | 15 | 2020 |
| Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish S Morales-Cámara, S Alexandre-Moreno, JM Bonet-Fernández, ... Genes 11 (5), 550, 2020 | 13 | 2020 |
| Avances en cáncer de páncreas, del laboratorio a la clínica JMM Planas, AS Ortega, JMG Bueno, CR Castillejo Asociación Española contra el Cáncer. Universidad Castilla de la Mancha, 2011 | 12 | 2011 |
| Functional characterization of eight rare missense CYP1B1 variants involved in congenital glaucoma and their association with null genotypes C Medina‐Trillo, JJ Ferre‐Fernández, JD Aroca‐Aguilar, ... Acta ophthalmologica 94 (7), e555-e560, 2016 | 11 | 2016 |
| The role of hsa-mir-548l dysregulation as a putative modifier factor for glaucoma-associated FOXC1 mutations C Medina-Trillo, JD Aroca-Aguilar, JJ Ferre-Fernández, ... Microrna 4 (1), 50-56, 2015 | 11 | 2015 |
| Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab M Martínez-Matilla, JJ Ferre-Fernández, MJ Aparisi, AV Marco-Hernández, ... Pediatric neurology 112, 53-55, 2020 | 8 | 2020 |
| Transgenic overexpression of myocilin leads to variable ocular anterior segment and retinal alterations associated with extracellular matrix abnormalities in adult zebrafish R Atienzar-Aroca, JJ Ferre-Fernández, A Tevar, JM Bonet-Fernández, ... International Journal of Molecular Sciences 23 (17), 9989, 2022 | 4 | 2022 |
| C-Terminal-PEDF Reduces IC50 Doses and Chemoresistant Population of CD133 and BCRP1-Positve Cancer Stem Like Cells P Castro-Garcia, C Gil-Gas, P Honrubia-Gómez, CB Alvarez-Simón, ... J Anal Oncol 2, 195-208, 2013 | 3 | 2013 |
| CRISPR-Cas9-mediated functional dissection of the foxc1 genomic region in zebrafish identifies critical conserved cis-regulatory elements JJ Ferre-Fernández, S Muheisen, S Thompson, EV Semina Human Genomics 16 (1), 49, 2022 | 2 | 2022 |
| Knockout of myoc Provides Evidence for the Role of Myocilin in Zebrafish Sex Determination Associated with Wnt Signalling Downregulation R Atienzar-Aroca, JD Aroca-Aguilar, S Alexandre-Moreno, ... Biology 10 (2), 98, 2021 | 2 | 2021 |
| Knockout of myoc Provides Evidence for the Role of Myocilin in Zebrafish Sex Determination Associated with Wnt Signalling Downregulation R Atienzar-Aroca, JD Aroca-Aguilar, S Alexandre-Moreno, ... Biology 10 (2), 98, 2021 | 2 | 2021 |
| CPAMD8 loss-of-function in a family with non-dominant congenital glaucoma and anterior segment dysgenesis. JMMB FERNANDEZ, JD Aroca-Aguilar, MT García-Antón, AI Ramírez, ... Investigative Ophthalmology & Visual Science 61 (7), 983-983, 2020 | 1 | 2020 |
| Hypo-and hypermorphic FOXC1 mutations in dominant primary congenital glaucoma. CM Trillo, JJF Fernández, JD Aroca-Aguilar, L Morales-Fernancez, ... Investigative Ophthalmology & Visual Science 55 (13), 3805-3805, 2014 | 1 | 2014 |
| Generation and characterization of an adamtsl4 knockout in zebrafish: a novel animal model to study ADAMTSL4-related ocular diseases A Tevar, JD Aroca-Aguilar, R Atienzar-Aroca, JJ Ferre-Fernández, ... Investigative Ophthalmology & Visual Science 64 (8), 748-748, 2023 | | 2023 |
| Knockout of myoc reveals the role of myocilin in zebrafish sex determination associated with Wnt signalling downregulation R Atienzar-Aroca, JD Aroca-Aguilar, S Alexandre-Moreno, ... bioRxiv, 2020.11. 17.380147, 2020 | | 2020 |
