Publicaciones en las que colabora con Julio Escribano Martínez (7)

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

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

2013

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

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