Publikationen, an denen er mitarbeitet Julio Escribano Martínez (17)

2024

  1. Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes

    Ophthalmic Genetics, Vol. 45, Núm. 4, pp. 421-424

  2. 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

  1. 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

  2. Cataract extraction in patients with primary congenital glaucoma

    European Journal of Ophthalmology, Vol. 30, Núm. 3, pp. 525-532

  3. Role of guca1c in primary congenital glaucoma and in the retina: Functional evaluation in zebrafish

    Genes, Vol. 11, Núm. 5

2019

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

    PLoS ONE, Vol. 14, Núm. 1

  2. 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

  1. Goniodysgenesis variability and activity of genotypes in primary congenital glaucoma

    PLoS ONE, Vol. 12, Núm. 4

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

    Scientific Reports, Vol. 7

2016

  1. Rare FOXC1 variants in congenital glaucoma: Identification of translation regulatory sequences

    European Journal of Human Genetics, Vol. 24, Núm. 5, pp. 672-680

2015

  1. Clinical variability of primary congenital glaucoma in a Spanish family with cyp1b1 gene mutations

    Journal of Glaucoma, Vol. 24, Núm. 8, pp. 630-634

  2. Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: Transactivation and phenotypic variability

    PLoS ONE, Vol. 10, Núm. 3

  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

  1. Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma

    Ophthalmology, Vol. 120, Núm. 4, pp. 716-723

2012

  1. Recent patents and developments in glaucoma biomarkers

    Recent Patents on Endocrine, Metabolic and Immune Drug Discovery, Vol. 6, Núm. 3, pp. 224-234

2011

  1. 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

  1. CYP1B1 mutations in Spanish patients with primary congenital glaucoma: Phenotypic and functional variability

    Molecular Vision, Vol. 15, pp. 417-431