Inmunología, Oftalmología y ORL
Département
![Foto de Julio](/img/nophoto.png)
Julio
Escribano Martínez
Publications dans lesquelles il/elle collabore avec Julio Escribano Martínez (16)
2024
-
The Increased Burden of Rare Variants in Four Matrix Metalloproteinase-Related Genes in Childhood Glaucoma Suggests a Complex Genetic Inheritance of the Disease
International Journal of Molecular Sciences, Vol. 25, Núm. 11
2020
-
CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix
Human Genetics, Vol. 139, Núm. 10, pp. 1209-1231
-
Cataract extraction in patients with primary congenital glaucoma
European Journal of Ophthalmology, Vol. 30, Núm. 3, pp. 525-532
-
Role of guca1c in primary congenital glaucoma and in the retina: Functional evaluation in zebrafish
Genes, Vol. 11, Núm. 5
2019
-
Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma
PLoS ONE, Vol. 14, Núm. 1
-
Transforming growth factor beta-induced p.(L558P) variant is associated with autosomal dominant lattice corneal dystrophy type IV in a large cohort of Spanish patients
Clinical and Experimental Ophthalmology, Vol. 47, Núm. 7, pp. 871-880
2017
2016
-
Rare FOXC1 variants in congenital glaucoma: Identification of translation regulatory sequences
European Journal of Human Genetics, Vol. 24, Núm. 5, pp. 672-680
2015
-
Clinical variability of primary congenital glaucoma in a Spanish family with cyp1b1 gene mutations
Journal of Glaucoma, Vol. 24, Núm. 8, pp. 630-634
-
Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: Transactivation and phenotypic variability
PLoS ONE, Vol. 10, Núm. 3
-
The Role of hsa-miR-548l Dysregulation as a Putative Modifier Factor for Glaucoma-Associated FOXC1 Mutations
MicroRNA (Shāriqah, United Arab Emirates), Vol. 4, Núm. 1, pp. 50-56
2013
-
Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma
Ophthalmology, Vol. 120, Núm. 4, pp. 716-723
2012
-
Recent patents and developments in glaucoma biomarkers
Recent Patents on Endocrine, Metabolic and Immune Drug Discovery, Vol. 6, Núm. 3, pp. 224-234
2011
-
WDR36 and P53 gene variants and susceptibility to primary open-angle glaucoma: Analysis of gene-gene interactions
Investigative Ophthalmology and Visual Science, Vol. 52, Núm. 11, pp. 8467-8478
2009
-
CYP1B1 mutations in Spanish patients with primary congenital glaucoma: Phenotypic and functional variability
Molecular Vision, Vol. 15, pp. 417-431