Mosaicism
Mostrando 1-12 de 272 artigos, teses e dissertações.
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1. McCune-Albright syndrome - A case report with transmission electron microscopy
Abstract McCune - Albright syndrome is a genetic disease with cutaneous mosaicism caused by post-zygotic activating mutations in GNAS locus, it has a triad of fibrous bone dysplasia, café-au-lait macules and precocious puberty. We examined a 22-year-old female patient with café au lait spot in right side of the abdomen, with a chessboard - like distributio
Anais Brasileiros de Dermatologia. Publicado em: 2022
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2. Coexistence of segmental vitiligo, scleroderma en coup de sabre and cleft lip on the same hemiface: association with mosaicism?
An. Bras. Dermatol.. Publicado em: 09/05/2019
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3. Helicobacter pylori with East Asian-type cagPAI genes is more virulent than strains with Western-type in some cagPAI genes
Abstract The severity of Helicobacter pylori-related disease is correlated with the presence and integrity of a cag pathogenicity island (cagPAI). cagPAI genotype may have a modifying effect on the pathogenic potential of the infecting strain. After analyzing the sequences of cagPAI genes, some strains with the East Asian-type cagPAI genes were selected for
Braz. J. Microbiol.. Publicado em: 2017-06
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4. Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism
Abstract Dyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurodevelopment abnormalities but no intellectual disability
An. Bras. Dermatol.. Publicado em: 2016-12
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5. Tetrasomy 3q26.32-q29 due to a supernumerary marker chromosome in a child with pigmentary mosaicism of Ito
Abstract Pigmentary mosaicism of Ito (PMI) is a skin abnormality often characterized by hypopigmentation of skin, following, in most cases, the Blaschko lines, usually associated with extracutaneous abnormalities, especially abnormalities of the central nervous system (CNS). It is suggested that this pattern arises from the presence and migration of two cell
Genet. Mol. Biol.. Publicado em: 2016-03
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6. Helicobacter pylori vacA and cagA genotypes in patients from northeastern Brazil with upper gastrointestinal diseases
Helicobacter pylori causes chronic gastric inflammation and significantly increases the risk of duodenal and gastric ulcer disease and distal gastric carcinoma. In this study, we evaluated the Helicobacter pylori vacA and cagA genotypes in patients from a Brazilian region where there is a high prevalence of gastric cancer. Polymerase chain reaction (PCR) was
Memórias do Instituto Oswaldo Cruz. Publicado em: 2012-06
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7. Amerindian Helicobacter pylori strains go extinct, as european strains expand their host range
We studied the diversity of bacteria and host in the H. pylori-human model. The human indigenous bacterium H. pylori diverged along with humans, into African, European, Asian and Amerindian groups. Of these, Amerindians have the least genetic diversity. Since niche diversity widens the sets of resources for colonizing species, we predicted that the Amerindia
Publicado em: 2010
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8. Estudo do padrão de inativação do cromossomo X em tecido extra-embrionário humano / X-chromosome inactivation pattern in human extra-embryonic tissue
Imprinted inactivation of the paternal X chromosome in marsupials is the primordial mechanism of dosage compensation for X-linked genes between females and males in Therians. In Eutherian mammals, X chromosome inactivation (XCI) evolved into a random process in cells from the embryo proper, where either the maternal or paternal X can be inactivated. However,
Publicado em: 2010
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9. Investigação citogenética em indivíduos com mosaico pigmentar do tipo Ito / Cytogenetic analysis in individuals with mosaic pigmentary of Ito type
O Mosaico pigmentar tipo Ito é uma alteração cutânea frequente, caracterizada por hipopigmentação da pele que, na maioria dos casos, segue o padrão linhas de Blaschko, geralmente associada a anomalias extracutâneas, sobretudo anomalias do Sistema Nervoso Central (SNC). Sugere-se que esse padrão decorre da presença e migração de duas linhagens cel
Publicado em: 2010
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10. FANCD2 Western blot as a diagnostic tool for Brazilian patients with Fanconi anemia
Fanconi anemia is a rare hereditary disease showing genetic heterogeneity due to a variety of mutations in genes involved in DNA repair pathways, which may lead to different clinical manifestations. Phenotypic variability makes diagnosis difficult based only on clinical manifestations, therefore laboratory tests are necessary. New advances in molecular patho
Brazilian Journal of Medical and Biological Research. Publicado em: 2009-03
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11. Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome
The high abortion rate of 45,X embryos indicates that patients with Turner syndrome and 45,X karyotype could be mosaics, in at least one phase of embryo development or cellular lineage, due to the need for the other sex chromosome presence for conceptus to be compatible with life. In cases of structural chromosomal aberrations or hidden mosaicism, convention
Brazilian Journal of Medical and Biological Research. Publicado em: 2008-05
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12. Disturbios do desenvolvimento cortical e epilepsia autossomica dominante com auras auditivas : estudos geneticos e moleculares / Malformations of cortical development and autosomal dominant partial epilepsy with auditory features
Temporal Lobe Epilepsy (TLE) and malformations of cortical development (MCD) are two of the most important causes of epilepsy. Extensive molecular genetic studies have resulted in gene discovery for MCD such as periventricular nodular heterotopia (PNH), lisencephaly/ subcortical band heterotopia spectrum (LIS-SBH), schizencephaly, polymicrogyria and for a su
Publicado em: 2008