Juan Carlos Zenteno

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

Feng Wang, Hui Wang, Han-Fang Tuan et al. · Human Genetics · 2013 · 235 citations

Molecular Diagnostic Techniques, Retinitis Pigmentosa, Genetics +10

Human <i>CHN1</i> Mutations Hyperactivate α2-Chimaerin and Cause Duane's Retraction Syndrome

Noriko Miyake, John K. Chilton, Maria Psatha et al. · Science · 2008 · 175 citations · Full text

Ganglion Cell, Signal Transduction, Developmental Biology +15

Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases

Gloria Queipo, Juan Carlos Zenteno, Rocío Peña et al. · Human Genetics · 2002 · 140 citations

Cytogenetics, Genetic Disorder, Genetics +9

A Novel Mutation Confirms MFRP as the Gene Causing the Syndrome of Nanophthalmos–Renititis Pigmentosa–Foveoschisis–Optic Disk Drusen

Jaume Crespí, José A. Buil, Francisca Bassaganyas et al. · American Journal of Ophthalmology · 2008 · 102 citations

Ocular Disease, Disease Mechanism, Ophthalmology +6

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

Johanna González‐Rodríguez, E. L. Pelcastre, José Luis Tovilla-Canales et al. · British Journal of Ophthalmology · 2010 · 82 citations