Jesús-José Ferre-Fernández

发表

CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix

J. Salazar, B. Rojas, A. Ramírez, 2020, Human Genetics.

Functional characterization of eight rare missense CYP1B1 variants involved in congenital glaucoma and their association with null genotypes

J. Escribano, J. Aroca-Aguilar, Juan-Manuel Bonet-Fernández, 2016, Acta ophthalmologica.

CRISPR-Cas9-mediated functional dissection of the foxc1 genomic region in zebrafish identifies critical conserved cis-regulatory elements

E. Semina, S. Muheisen, Jesús-José Ferre-Fernández, 2022, Human Genomics.

Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish

J. García-Feijóo, N. Cuenca, J. Escribano, 2020, Genes.

Transgenic Overexpression of Myocilin Leads to Variable Ocular Anterior Segment and Retinal Alterations Associated with Extracellular Matrix Abnormalities in Adult Zebrafish

N. Cuenca, J. Escribano, J. Aroca-Aguilar, 2022, International journal of molecular sciences.

Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development

M. Gut, M. Cortón, J. García-Feijóo, 2017, Scientific Reports.

Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma

J. García-Feijóo, J. Escribano, C. Mendez-Hernandez, 2019, PloS one.

Hypo- and Hypermorphic FOXC1 Mutations in Dominant Glaucoma: Transactivation and Phenotypic Variability

J. García-Feijóo, C. Ayuso, F. Blanco-Kelly, 2015, PloS one.

Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome.

E. Sorokina, E. Semina, J. Lincoln, 2020, Human molecular genetics.

Knockout of myoc Provides Evidence for the Role of Myocilin in Zebrafish Sex Determination Associated with Wnt Signalling Downregulation

J. Aroca-Aguilar, Juan-Manuel Bonet-Fernández, Susana Alexandre-Moreno, 2021, Biology.

Knockout of myoc reveals the role of myocilin in zebrafish sex determination associated with Wnt signalling downregulation

J. Aroca-Aguilar, Juan-Manuel Bonet-Fernández, Susana Alexandre-Moreno, 2020, bioRxiv.

Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab.

Y. Crow, L. Pedrola, F. Martínez-Castellano, 2020, Pediatric neurology.