Jose R. Carvalho-De
Recife, PE, Brazil
Last Updated: 09/26/2026
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Found 32 publications
A novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia.
Journal: Ophthalmic genetics
Published: January 20, 2025
Prime editing for the investigation of aberrant splicing defect associated with a pathogenic PRPH2 variant.
Journal: Molecular therapy. Nucleic acids
Published: October 28, 2024
SLC16A8 is a causal contributor to age-related macular degeneration risk.
Journal: NPJ genomic medicine
Published: May 09, 2024
Multimodal Imaging and Dark-Adapted Chromatic Perimetry in BEST1 Vitelliform Macular Dystrophy: Identification of Outcome Measurements.
Journal: Ophthalmology science
Published: April 24, 2024
Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 23, 2024
Insights Into PROM1-Macular Disease Using Multimodal Imaging.
Journal: Investigative ophthalmology & visual science
Published: April 24, 2023
Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes.
Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes.
Journal: Investigative ophthalmology & visual science
Published: March 13, 2023
Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence.
Journal: Molecular genetics & genomic medicine
Published: May 17, 2022
Proteomic analysis of autoimmune retinopathy implicates NrCAM as a potential biomarker.
Journal: Ophthalmology science
Published: May 09, 2022
Extreme Clinical Variability Among Carriers of Pathogenic Variant in SSBP1.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: December 23, 2021
Long-term vitamin A supplementation in a preclinical mouse model for RhoD190N-associated retinitis pigmentosa.
Journal: Human molecular genetics
Published: November 18, 2021
Last Updated: 09/26/2026