Paulo Alberto Otto
Overview
Explore the profile of Paulo Alberto Otto including associated specialties, affiliations and a list of published articles.
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Articles
13
Citations
161
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0
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Recent Articles
1.
Bertani-Torres W, Lezirovitz K, Alencar-Coutinho D, Pardono E, da Costa S, Antunes L, et al.
Audiol Res
. 2024 Feb;
14(1):9-25.
PMID: 38391765
Waardenburg syndrome (WS) is characterized by hearing loss and pigmentary abnormalities of the eyes, hair, and skin. The condition is genetically heterogeneous, and is classified into four clinical types differentiated...
2.
Tolezano G, Bastos G, da Costa S, Scliar M, de Souza C, Van der Linden Jr H, et al.
Mol Neurobiol
. 2024 Jan;
61(8):5230-5247.
PMID: 38180615
Microcephaly is characterized by an occipitofrontal circumference at least two standard deviations below the mean for age and sex. Neurodevelopmental disorders (NDD) are commonly associated with microcephaly, due to perturbations...
3.
Tolezano G, da Costa S, Scliar M, Fernandes W, Otto P, Bertola D, et al.
Int J Mol Cell Med
. 2021 Mar;
9(4):296-306.
PMID: 33688487
17p13.3 microduplications are rare copy number variations (CNVs) associated with variable phenotypes, including facial dysmorphism, developmental delay, intellectual disability, and autism. Typically, when a recognized pathogenic CNV is identified, other...
4.
Souza L, Almeida C, Yamamoto G, de Cassia Mingroni Pavanello R, Gurgel-Giannetti J, da Costa S, et al.
Neurol Genet
. 2020 Oct;
6(5):e513.
PMID: 33062893
Objective: To analyze the modulation of the phenotype in manifesting carriers of recessive X-linked myotubular myopathy (XLMTM), searching for possible genetic modifiers. Methods: Twelve Brazilian families with XLMTM were molecularly...
5.
Santos F, Lemes R, Otto P
Genet Mol Biol
. 2020 May;
43(2):e20190380.
PMID: 32422648
This article deals with a Windows (© Microsoft Inc.) executable, user-friendly program that tests the hypothesis of Hardy-Weinberg (HW) proportions from autosomal multiallelic data using different methods that include parametric,...
6.
DAngelo C, Varela M, de Castro C, Otto P, Perez A, Lourenco C, et al.
Mol Cytogenet
. 2018 Feb;
11:14.
PMID: 29441128
Background: Syndromic obesity is an umbrella term used to describe cases where obesity occurs with additional phenotypes. It often arises as part of a distinct genetic syndrome with Prader-Willi syndrome...
7.
Bocangel M, Melo U, Alves L, Pardono E, Lourenco N, Marcolino H, et al.
Eur J Med Genet
. 2018 Feb;
61(6):348-354.
PMID: 29407415
This paper deals with the molecular investigation of Waardenburg syndrome (WS) in a sample of 49 clinically diagnosed probands (most from southeastern Brazil), 24 of them having the type 1...
8.
Nitrini R, Goncalves M, Capelli L, Barbosa E, Porto C, Amaro E, et al.
Dement Neuropsychol
. 2017 Dec;
4(1):79-83.
PMID: 29213666
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a cause of movement disorders and cognitive decline which has probably been underdiagnosed, especially if its prevalence proves similar to those of progressive supranuclear...
9.
Alves L, Perez A, Garcia Alonso L, Otto P, Mingroni-Netto R
Eur J Med Genet
. 2016 Jan;
59(2):80-5.
PMID: 26791099
Okihiro syndrome, Duane-radial ray syndrome or acro-reno-ocular syndrome (OMIM #607323) are alternative denominations describing an extremely variable condition, characterized by several radial defects of the upper limbs associated with Duane...
10.
Abreu-Silva R, Rincon D, Horimoto A, Sguillar A, Ricardo L, Kimura L, et al.
Ann Hum Biol
. 2010 Sep;
38(2):210-8.
PMID: 20812880
Background And Aim: Knowledge about the genetic factors responsible for noise-induced hearing loss (NIHL) is still limited. This study investigated whether genetic factors are associated or not to susceptibility to...