Amom M Nascimento
Overview
Explore the profile of Amom M Nascimento including associated specialties, affiliations and a list of published articles.
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7
Citations
25
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0
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Recent Articles
1.
Almeida V, Chehimi S, Carvalho G, Gasparini Y, Nascimento A, Vieira L, et al.
BMC Res Notes
. 2024 Apr;
17(1):121.
PMID: 38679724
Cri Du Chat syndrome, or 5p- syndrome, is characterized by a terminal or interstitial deletion on the short arm of chromosome 5 that causes variable clinical manifestations, including high-pitched cry...
2.
Almeida V, Chehimi S, Gasparini Y, Nascimento A, Carvalho G, Montenegro M, et al.
Mol Syndromol
. 2023 Jan;
13(6):527-536.
PMID: 36660031
Introduction: Cri-du-chat syndrome is generally diagnosed when patients present a high-pitched cry at birth, microcephaly, ocular hypertelorism, and prominent nasal bridge. The karyotype is useful to confirm deletions in the...
3.
Zanardo E, Monteiro F, Chehimi S, Oliveira Y, Dias A, A Costa L, et al.
J Mol Diagn
. 2020 Jun;
22(8):1041-1049.
PMID: 32497716
Overcoming challenges for the unambiguous detection of copy number variations is essential to broaden our understanding of the role of genomic variants in the clinical phenotype. With the improvement of...
4.
Montenegro M, Quaio C, Palmeira P, Gasparini Y, Rangel-Santos A, Damasceno J, et al.
Mol Genet Genomic Med
. 2020 Feb;
8(4):e1133.
PMID: 32073752
Background: Bloom syndrome (BS) is a rare autosomal recessive chromosome instability disorder. The main clinical manifestations are growth deficiency, telangiectasic facial erythema, immunodeficiency, and increased risk to develop neoplasias at...
5.
Chehimi S, Zanardo E, Ceroni J, Nascimento A, Madia F, Dias A, et al.
Mol Genet Genomic Med
. 2019 Oct;
8(2):e957.
PMID: 31568707
Background: Cri du chat syndrome (CdCS) is a rare syndrome caused by a partial or complete deletion of the short arm of chromosome 5 (5p-). The main clinical features include...
6.
Novo-Filho G, Montenegro M, Zanardo E, Dutra R, Dias A, Piazzon F, et al.
Cytogenet Genome Res
. 2016 Sep;
149(4):241-246.
PMID: 27665090
The most prevalent structural variations in the human genome are copy number variations (CNVs), which appear predominantly in the subtelomeric regions. Variable sizes of 4p/4q CNVs have been associated with...
7.
Dutra R, Piazzon F, Zanardo E, Costa T, Montenegro M, Novo-Filho G, et al.
Am J Med Genet A
. 2015 Oct;
167A(12):3197-203.
PMID: 26420477
Williams-Beuren syndrome (WBS) is caused by a hemizygous contiguous gene microdeletion of 1.55-1.84 Mb at 7q11.23 region. Approximately, 28 genes have been shown to contribute to classical phenotype of SWB...