Výsledky vyhledávání - "Cristiano Luiz Ribeiro"

Akademický článek

Genomic variations in patients with myelodysplastic syndrome and karyotypes without numerical or structural changes

Autor: Cristiano Luiz Ribeiro, Irene P. Pinto, Samara S. S. Pereira, Lysa B. Minasi, Fernanda de S. M. Kluthcouski, Adriano de M. Arantes, Aparecido D. da Cruz, Marcio A. A. de Almeida, Tom E. Howard, Cláudio C. da Silva

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)

Abstract Myelodysplastic syndrome (MDS) is an onco-hematologic disease with distinct levels of peripheral blood cytopenias, dysplasias in cell differentiation and various forms of chromosomal and cytogenomic alterations. In this study, the Chromosoma

Externí odkaz: https://doaj.org/article/e08b9d9b7e66439fb08239c6877d3462

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Akademický článek

Screening for intellectual disability using high-resolution CMA technology in a retrospective cohort from Central Brazil.

Autor: Rodrigo Roncato Pereira, Irene Plaza Pinto, Lysa Bernardes Minasi, Aldaires Vieira de Melo, Damiana Mirian da Cruz e Cunha, Alex Silva Cruz, Cristiano Luiz Ribeiro, Cláudio Carlos da Silva, Daniela de Melo e Silva, Aparecido Divino da Cruz

Publikováno v: PLoS ONE, Vol 9, Iss 7, p e103117 (2014)

Intellectual disability is a complex, variable, and heterogeneous disorder, representing a disabling condition diagnosed worldwide, and the etiologies are multiple and highly heterogeneous. Microscopic chromosomal abnormalities and well-characterized

Externí odkaz: https://doaj.org/article/af0d7dfd48874367828be82e43c95657

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Genomic variations in patients with myelodysplastic syndrome and karyotypes without numerical or structural changes

Autor: Lysa Bernardes Minasi, Cláudio Carlos da Silva, Fernanda de S. M. Kluthcouski, Tom E. Howard, Aparecido Divino da Cruz, Adriano de M. Arantes, Marcio Almeida, Cristiano Luiz Ribeiro, Samara Socorro Silva Pereira, Irene Plaza Pinto

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Scientific Reports

Myelodysplastic syndrome (MDS) is an onco-hematologic disease with distinct levels of peripheral blood cytopenias, dysplasias in cell differentiation and various forms of chromosomal and cytogenomic alterations. In this study, the Chromosomal Microar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5725fc2c012374bb21d227743fcb5bec
https://doi.org/10.1038/s41598-021-81467-2

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Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil

Autor: Aldaires Vieira de Melo, Aparecido Divino da Cruz, Gustavo Rios Nasciment Nascimento, Lysa Bernardes Minasi, Damiana Mírian da Cruz, Cristiano Luiz Ribeiro, Cláudio Carlos da Silva, Irene Plaza Pinto

Publikováno v: Molecular Syndromology. 8:155-160

Koolen de Vries syndrome (KDVS; MIM 610443) is a genomic disorder caused by a recurrent microdeletion derived from nonallelic homologous recombination mediated by flanking segmental duplications. Clinical manifestations of this syndrome are character

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa80af17b202d023366dc590fc9503e6
https://doi.org/10.1159/000456910

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Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches

Autor: J.G. de Almeida, A.D. da Cruz, Irene Plaza Pinto, M.G. Brasil, Gustavo Pinto Silva, Damiana Miriam da Cruz e Cunha, A.V. de Melo, C.C. da Silva, Daniela de Melo e Silva, Lysa Bernardes Minasi, Cristiano Luiz Ribeiro

Publikováno v: Genetics and Molecular Research. 14:1692-1699

We describe the first postnatal diagnosis of a child from Central Brazil with de novo cytogenetic alterations in 13q showing malformations of the brain, eyes, distal limbs, and genitourinary tract, and severe intellectual disability. The karyotype wa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6257eace788d8dea4dba8eff6ca9482d
https://doi.org/10.4238/2015.march.6.15

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Do GSTT1 and GSTM1 polymorphisms influence intoxication events in individuals occupationally exposed to pesticides?

Autor: Aldaires Vieira de Melo, Angela Adamski da Silva Reis, Alex Silva da Cruz, Aparecido Divino da Cruz, Daniela de Melo e Silva, Emília Costa, Mariana P. Batista, Fernanda Ribeiro Godoy, Cristiano Luiz Ribeiro, Macks Wendhel Gonçalves, Caroline Oliveira de Araújo Melo, Lysa Bernardes Minasi

Publikováno v: Environmental Science and Pollution Research. 21:3706-3712

This study evaluated the variability of GSTM1 and GSTT1 polymorphisms in individuals occupationally exposed to pesticides in ten Goias municipalities that present intense agricultural activity. We evaluated blood samples of 235 individuals, which 120

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48594eef048b67cc949bfdd279be07bb
https://doi.org/10.1007/s11356-013-2349-7

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A rare case of a boy with de novo microduplication at 5q35.2q35.3 from central Brazil

Autor: Cristiano Luiz Ribeiro, D.M. da Cruz e Cunha, F. G. Reis, Aldaires Vieira de Melo, Irene Plaza Pinto, L.B. Minasi, D. M. Silva, C.C. da Silva, A.D. da Cruz

Publikováno v: Genetics and molecular research : GMR. 16(1)

Genomic disorders are genetic diseases that are caused by rearrangements of chromosomal material via deletions, duplications, and inversions of unique genomic segments at specific regions. Such rearrangements could result from recurrent non-allelic h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ed0ce8a7ef279b0bc46f43dccfd70d4
https://pubmed.ncbi.nlm.nih.gov/28128410

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The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology

Autor: Irene Plaza Pinto, Lysa Bernardes Minasi, Cristiano Luiz Ribeiro, Cláudio Carlos da Silva, Aparecido Divino da Cruz, Damiana Mirian da Cruz e Cunha, Ana Julia Cunha Leite

Publikováno v: BioMed Research International
BioMed Research International, Vol 2016 (2016)

The chromosome 22q11.2 region has long been implicated in genomic diseases. Some genomic regions exhibit numerous low copy repeats with high identity in which they provide increased genomic instability and mediate deletions and duplications in many d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20288003737ed12c66d346f753d78773
http://europepmc.org/articles/PMC4830712

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