Výsledky vyhledávání - "Angela Cristina Vidi"

Akademický článek

Intelligence Quotient Variability in Klinefelter Syndrome Is Associated With GTPBP6 Expression Under Regulation of X-Chromosome Inactivation Pattern

Autor: Luciane Simonetti, Lucas G. A. Ferreira, Angela Cristina Vidi, Janaina Sena de Souza, Ilda S. Kunii, Maria Isabel Melaragno, Claudia Berlim de Mello, Gianna Carvalheira, Magnus R. Dias da Silva

Publikováno v: Frontiers in Genetics, Vol 12 (2021)

Klinefelter syndrome (KS) displays a broad dysmorphological, endocrinological, and neuropsychological clinical spectrum. We hypothesized that the neurocognitive dysfunction present in KS relies on an imbalance in X-chromosome gene expression. Thus, t

Externí odkaz: https://doaj.org/article/1e3a1c159dc34caab5ee074aede09c92

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Novel lincRNA Susceptibility Gene and Its Role in Etiopathogenesis of Thyrotoxic Periodic Paralysis

Autor: Ilda S. Kunii, Magnus R. Dias-da-Silva, Gisele Giannocco, Gianna Carvalheira, Janaina Sena de Souza, Marina M. L. Kizys, Angela Cristina Vidi, Maria Clara C. Melo, Haron Silva Dorta

Publikováno v: Journal of the Endocrine Society

Thyrotoxic periodic paralysis (TPP) is a life-threatening neuromuscular complication of thyrotoxicosis characterized by muscle weakness and hypokalemia and with an unclear etiopathogenesis. However, the 17q24.3 locus had been genetically linked to TP

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::386133d133388919bbdee5b5036513b8
https://doi.org/10.1210/js.2017-00015

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Whole genome and exome sequencing realignment supports the assignment of KCNJ12, KCNJ17, and KCNJ18 paralogous genes in thyrotoxic periodic paralysis locus: functional characterization of two polymorphic Kir2.6 isoforms

Autor: Manoel Arcisio-Miranda, Magnus R. Dias-da-Silva, Diego R. Mazzotti, Rolf Matias Paninka, Ilda S. Kunii, Angela Cristina Vidi, Marina M. L. Kizys, Gilberto K. Furuzawa, Silas P. Silva, Hélio Rodrigues

Publikováno v: Molecular Genetics and Genomics. 291:1535-1544

Next-generation sequencing (NGS) has enriched the understanding of the human genome. However, homologous or repetitive sequences shared among genes frequently produce dubious alignments and can puzzle NGS mutation analysis, especially for paralogous

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b1642f5231b6f9df44c05169908c8d2
https://doi.org/10.1007/s00438-016-1185-0

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Incorporation of 5-ethynyl-2′-deoxyuridine (EdU) as a novel strategy for identification of the skewed X inactivation pattern in balanced and unbalanced X-rearrangements

Autor: Magnus R. Dias da Silva, Gianna Carvalheira, Adriana Bortolai, Maria Isabel Melaragno, Angela Cristina Vidi, Adriana Di Battista, Mariana Moysés-Oliveira, Danilo Moretti-Ferreira, Luiza Sisdelli

Publikováno v: Web of Science
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP

Made available in DSpace on 2018-11-26T16:19:15Z (GMT). No. of bitstreams: 0 Previous issue date: 2016-02-01 Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) X-chromosome inactivation occurs randomly in normal female cells. However,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::644923ef890fde17ac3578a1ba72025e
https://doi.org/10.1007/s00439-015-1622-x

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