Publicacions en què col·labora amb 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