Edi Lucia Sartorato
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Explore the profile of Edi Lucia Sartorato including associated specialties, affiliations and a list of published articles.
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36
Citations
184
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Recent Articles
1.
Arrojo Martins F, Ramos B, Sartorato E
Genet Mol Biol
. 2018 Dec;
41(4):794-798.
PMID: 30534854
HDR syndrome is a rare autosomal dominant disorder caused by mutations in the GATA3 gene and characterized by hypoparathyroidism, sensorineural deafness and renal abnormalities. Here we report a Brazilian family,...
2.
Arrojo Martins F, Miranda P, Fernandes M, Maciel-Guerra A, Sartorato E
Mol Vis
. 2017 Aug;
23:495-503.
PMID: 28761322
Purpose: Leber hereditary optic neuropathy (LHON) is a mitochondrial inherited disease characterized by bilateral vision problems, such as reduced visual acuity, dyschromatopsia, and central or centrocecal scotoma. Of these cases,...
3.
Souto F, de Vasconcellos J, de Melo M, Sartorato E, Castelo Moura F
Neuroophthalmology
. 2017 Mar;
41(2):99-102.
PMID: 28348633
Glaucoma is a neurodegenerative disorder characterized by thinning of neuroretinal rim, enlarged cup-to-disc ratio (CDR) and visual field damage. Although raised intraocular pressure is main risk factor for development of...
4.
Carvalho G, Prista Leao B, Zonzini Ramos P, Guimaraes A, Castilho A, Sartorato E
Acta Med Port
. 2016 Nov;
29(6):353-359.
PMID: 27865214
Introduction: Auditory neuropathy is a condition in which there is a change in the neuronal transmission of the auditory stimuli. Our objective was to describe the patients' series within the...
5.
Miranda P, da Silva-Costa S, Balieiro J, Fernandes M, Alves R, Guerra A, et al.
Mol Vis
. 2016 Sep;
22:1024-35.
PMID: 27582625
Purpose: Leber hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by bilateral vision loss. More than 95% of LHON cases are associated with one of the three main mtDNA...
6.
Lopes K, Sartorato E, da Silva-Costa S, de Macedo Adamov N, Gananca F
Otol Neurotol
. 2016 Aug;
37(8):1117-21.
PMID: 27509294
Objectives: Ménière's disease (MD) is a complex disease of unknown etiology characterized by a symptomatic tetrad of vertigo, hearing loss, tinnitus, and aural fullness. In addition to factors related to...
7.
Alves R, da Silva Costa S, Miranda P, Zonzini Ramos P, Marconi T, Santos Oliveira G, et al.
BMC Med Genet
. 2016 May;
17(1):41.
PMID: 27230773
Background: Mutations in the mitochondrial DNA (mtDNA) have been associated with aminoglycoside-induced and nonsyndromic deafness in different populations. In the present study, we investigated the contribution of mutations in mitochondrial...
8.
de Carvalho G, Zonzini Ramos P, Castilho A, Guimaraes A, Sartorato E
Mol Med Rep
. 2016 May;
14(1):481-90.
PMID: 27177047
Auditory neuropathy is a type of hearing loss that constitutes a change in the conduct of the auditory stimulus by the involvement of inner hair cells or auditory nerve synapses....
9.
Svidnicki M, Silva-Costa S, Zonzini Ramos P, dos Santos N, Arrojo Martins F, Castilho A, et al.
BMC Med Genet
. 2015 Sep;
16:85.
PMID: 26399936
Background: Recent advances in molecular genetics have enabled to determine the genetic causes of non-syndromic hearing loss, and more than 100 genes have been related to the phenotype. Due to...
10.
Castilho A, Pauna H, Fernandes F, Bonhin R, Guimaraes A, Melo T, et al.
BMC Res Notes
. 2015 Jul;
8:304.
PMID: 26174835
Background: Cochlear implants have been used for almost 30 years as a device for the rehabilitation of individuals with severe-to-profound hearing loss. One of the important aspects of cochlear implantation...