Juan Carlos Zenteno
Publications by Year
Research Areas
Retinal Development and Disorders, Retinal Diseases and Treatments, Ocular Disorders and Treatments, Glaucoma and retinal disorders, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Most-Cited Works
- → Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements(2013)237 cited
- → Human CHN1 Mutations Hyperactivate α2-Chimaerin and Cause Duane's Retraction Syndrome(2008)176 cited
- → Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci(2017)156 cited
- → Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases(2002)140 cited
- → A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome(2015)128 cited
- → A Novel Mutation Confirms MFRP as the Gene Causing the Syndrome of Nanophthalmos–Renititis Pigmentosa–Foveoschisis–Optic Disk Drusen(2008)103 cited
- → Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases(2010)82 cited
- → Synthesis of 4A zeolite from calcined kaolins for use in detergents(1988)73 cited
- Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy.(2006)
- → Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies(2019)58 cited