Jose Ronaldo Lima de Carvalho
Overview
Explore the profile of Jose Ronaldo Lima de Carvalho including associated specialties, affiliations and a list of published articles.
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4
Citations
11
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Recent Articles
1.
Vasconcelos A, Oh J, Guan B, Torres V, Gaete M, Lima de Carvalho J
Ophthalmic Genet
. 2025 Jan;
1-5.
PMID: 39833124
Background: Oculodentodigital dysplasia (ODDD) is a rare syndrome that causes a constellation of facial, ophthalmic, dental, and limb abnormalities. Variants in the gap junction alpha-1 () gene have been described...
2.
Nouri N, Gussler B, Stockwell A, Truong T, Kang G, Browder K, et al.
NPJ Genom Med
. 2024 Oct;
9(1):50.
PMID: 39468037
Age-related macular degeneration (AMD), a complex neurodegenerative disease, is a leading cause of visual impairment worldwide with a strong genetic component. Genetic studies have identified several loci, but few causal...
3.
Cui X, Kim H, Cheng C, Jenny L, Lima de Carvalho J, Chang Y, et al.
Hum Mol Genet
. 2022 Feb;
31(14):2438-2451.
PMID: 35195241
Retinitis pigmentosa (RP) is caused by one of many possible gene mutations. The National Institutes of Health recommends high daily doses of vitamin A palmitate for RP patients. There is...
4.
Soares M, Lins O, Lima de Carvalho J, de Sa C, Van der Linden V, Covaleski A
Pract Neurol
. 2021 Dec;
22(3):213-215.
PMID: 34969826
Allgrove syndrome is an autosomal recessive disease mostly caused by mutations in the gene. It has variable clinical features but its cardinal features comprise the triad of achalasia, alacrimia and...
5.
Zhang E, Ryu J, Levi S, Oh J, Hsu C, Cui X, et al.
Mamm Genome
. 2020 Apr;
31(3-4):77-85.
PMID: 32342224
Retinitis pigmentosa (RP) is a neurodegenerative disorder that causes irreversible vision loss in over 1.5 million individuals world-wide. The genetic heterogeneity of RP necessitates a broad therapy that is able...