Edi L. Sartorato - Publications

A rare variant in TRIOBP linked to occupational noise exposure in Meniere disease.

Journal: Genes & diseases

Published: August 16, 2025

Replication of Missense OTOG Gene Variants in a Brazilian Patient with Menière's Disease.

Journal: Genes

Published: May 06, 2025

Contribution of the GSTP1 c.313A>G variant to hearing loss risk in patients exposed to platin chemotherapy during childhood.

Journal: Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico

Published: July 24, 2018

A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene.

Journal: Genetics and molecular biology

Published: June 27, 2017

Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON).

Journal: Molecular vision

Published: March 02, 2017

Differentiating Leber Hereditary Optic Neuropathy from Normal-Tension Glaucoma.

Journal: Neuro-ophthalmology (Aeolus Press)

Published: November 03, 2016

Ménière's Disease: Molecular Analysis of Aquaporins 2, 3 and Potassium Channel KCNE1 Genes in Brazilian Patients.

Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

Published: August 11, 2016