[HTML][HTML] Review and update on the molecular basis of Leber congenital amaurosis

OF Chacon-Camacho, JC Zenteno - World Journal of Clinical …, 2015 - ncbi.nlm.nih.gov
Inherited retinal diseases are uncommon pathologies and one of the most harmful causes
of childhood and adult blindness. Leber congenital amaurosis (LCA) is the most severe kind …

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

…, H Ren, K Wang, I Lopez, R Qamar, JC Zenteno… - Human genetics, 2014 - Springer
Retinitis pigmentosa (RP) is a devastating form of retinal degeneration, with significant
social and professional consequences. Molecular genetic information is invaluable for an …

Human CHN1 Mutations Hyperactivate α2-Chimaerin and Cause Duane's Retraction Syndrome

…, ML Ciccarelli, A Baldi, M Campioni, JC Zenteno… - Science, 2008 - science.org
Duane's retraction syndrome (DRS) is a complex congenital eye movement disorder caused
by aberrant innervation of the extraocular muscles by axons of brainstem motor neurons. …

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

…, KH Park, SC Cha, K Yamashiro, JC Zenteno… - Nature …, 2017 - nature.com
Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma
and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, …

[PDF][PDF] A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP …

…, M Amato-Almanza, I Horta-Diez, JC Zenteno - Mol Vis, 2006 - molvis.org
Purpose: To describe the clinical and genetic characteristics of a new ophthalmic syndrome,
which consists of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic …

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

…, YS Astakhov, KK Abu-Amero, JC Zenteno… - Nature …, 2015 - nature.com
Exfoliation syndrome (XFS) is the most common recognizable cause of open-angle
glaucoma worldwide. To better understand the etiology of XFS, we conducted a genome-wide …

A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos–renititis pigmentosa–foveoschisis–optic disk drusen

…, R Ayala-Ramírez, JC Zenteno - American journal of …, 2008 - Elsevier
PURPOSE: To describe the clinical and genetic characteristics of the second family with a
recently described recessive syndrome characterized by posterior microphthalmos, retinitis …

Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia–anophthalmia–coloboma (MAC) spectrum cases

…, Z Espinosa-Mattar, JC Zenteno - British journal of …, 2010 - bjo.bmj.com
Background/aims Microphthalmia-anophthalmia-coloboma (MAC) are congenital eye
malformations causing a significant percentage of visually impairments in children. Although these …

Gonadoblastoma in Turner syndrome patients with nonmosaic 45, X karyotype and Y chromosome sequences

…, C Barrón, E Reyes, JP Méndez, JC Zenteno - Cancer genetics and …, 2004 - Elsevier
Turner syndrome (TS) is a disorder caused by partial or complete X-chromosome monosomy.
Studies in TS patients with different karyotypes have demonstrated the presence of Y-…

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

…, M Zenker, JC Zenteno - … Genetics & Genomic …, 2019 - Wiley Online Library
Background Postzygotic KRAS, HRAS, NRAS, and FGFR1 mutations result in a group of
mosaic RASopathies characterized by related developmental anomalies in eye, skin, heart, and …