Elaine Cristina Zachi
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Explore the profile of Elaine Cristina Zachi including associated specialties, affiliations and a list of published articles.
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11
Citations
79
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Recent Articles
1.
Costa C, Madanelo L, Wang J, da Silva Campos G, De Sanctis Girardi A, Scliar M, et al.
NPJ Genom Med
. 2025 Mar;
10(1):18.
PMID: 40050609
Duchenne and Becker Muscular Dystrophy are dystrophinopathies with a prevalence of 1:5000-6000 males, caused by pathogenic variants in DMD. These conditions are often accompanied by neurodevelopmental disorders (NDDs) like autism...
2.
Costa C, da Silva Campos G, da Silva Montenegro E, Wang J, Scliar M, Monfardini F, et al.
Eur J Hum Genet
. 2023 Jun;
31(9):1017-1022.
PMID: 37280359
De novo variants (DNVs) analysis has proven to be a powerful approach to gene discovery in Autism Spectrum Disorder (ASD), which has not yet been shown in a Brazilian ASD...
3.
Moreira D, Suzuki A, Teles E Silva A, Varella-Branco E, Meneghetti M, Kobayashi G, et al.
Front Cell Neurosci
. 2022 Jan;
15:803302.
PMID: 35095425
Biallelic pathogenic variants in TBCK cause encephaloneuropathy, infantile hypotonia with psychomotor retardation, and characteristic facies 3 (IHPRF3). The molecular mechanisms underlying its neuronal phenotype are largely unexplored. In this study,...
4.
De Sanctis Girardi A, van Opstal Takahashi V, Vadasz E, Costa C, Zachi E, Vianna-Morgante A, et al.
Am J Med Genet A
. 2022 Jan;
188(4):1334-1337.
PMID: 34981645
No abstract available.
5.
Costa C, da Silva Montenegro E, Zarrei M, de Sa Moreira E, Silva I, Scliar M, et al.
Clin Genet
. 2021 Oct;
101(1):134-141.
PMID: 34664255
Prediction of pathogenicity of rare copy number variations (CNVs), a genomic alteration known to contribute to the etiology of autism spectrum disorder (ASD), represents a serious limitation to interpreting genetic...
6.
da Silva Montenegro E, Costa C, Campos G, Scliar M, Almeida T, Zachi E, et al.
Autism Res
. 2019 Nov;
13(2):199-206.
PMID: 31696658
Large genomic databases of neurodevelopmental disorders (NDD) are helpful resources of genomic variations in complex and heterogeneous conditions, as Autism Spectrum Disorder (ASD). We evaluated the role of rare copy...
7.
Griesi-Oliveira K, Suzuki A, Alves A, Mafra A, Yamamoto G, Ezquina S, et al.
Sci Rep
. 2018 Jul;
8(1):11138.
PMID: 30042445
Several lines of indirect evidence, such as mutations or dysregulated expression of genes related to cytoskeleton, have suggested that cytoskeletal dynamics, a process essential for axons and dendrites development, is...
8.
Teixeira R, Zachi E, Roque D, Taub A, Ventura D
Dement Neuropsychol
. 2017 Dec;
5(2):129-134.
PMID: 29213735
Objective: The present study investigated how age, gender and educational level might affect the performance of the non-verbal system. Methods: A total of 60 children and adolescents aged 6 to...
9.
Zachi E, Taub A, Faria M, Ventura D
Dement Neuropsychol
. 2017 Dec;
2(2):91-95.
PMID: 29213549
Objectives: The purpose of this work was to reexamine these functions after 18 months in order to evaluate their progression. Methods: Thirteen participants completed tests of attention, inhibitory control, verbal/visual...
10.
Rocha-Muniz C, Zachi E, Teixeira R, Ventura D, Befi-Lopes D, Schochat E
Braz J Otorhinolaryngol
. 2014 Aug;
80(3):231-6.
PMID: 25153108
Introduction: It is crucial to understand the complex processing of acoustic stimuli along the auditory pathway; comprehension of this complex processing can facilitate our understanding of the processes that underlie...