Genomic Imbalances
Mostrando 1-12 de 23 artigos, teses e dissertações.
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1. Identification of genomic imbalances in oral clefts
Abstract Objective This article presents a clinical and cytogenomic approach that focuses on the diagnosis of syndromic oral clefts (OCs). Methods The inclusion criteria were individuals with OC presenting four or more minor signs and no major defects (non-syndromic oral clefts [NSOCs]) as well as individuals with OC presenting at least another major defec
J. Pediatr. (Rio J.). Publicado em: 2021-06
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2. Revisiting the roles of VHR/DUSP3 phosphatase in human diseases
Protein tyrosine phosphatases have long been considered key regulators of biological processes and are therefore implicated in the origins of various human diseases. Heterozygosity, mutations, deletions, and the complete loss of some of these enzymes have been reported to cause neurodegenerative diseases, autoimmune syndromes, genetic disorders, metabolic di
Clinics. Publicado em: 06/09/2018
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3. Estudo genético da síndrome de Silver-Russell / Genetic studies of Silver-Russell syndrome
A síndrome de Silver-Russell (SRS) é caracterizada principalmente por grave retardo de crescimento intrauterino e pós-natal e face típica, pequena e triangular, entre outras características variáveis. A SRS é geneticamente heterogênea, ocorrendo em geral de forma esporádica. Mutações genéticas e epigenéticas em regiões sujeitas a imprinting gen
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 20/05/2011
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4. Genomic alterations detected by comparative genomic hybridization in ovarian endometriomas
Endometriosis is a complex and multifactorial disease. Chromosomal imbalance screening in endometriotic tissue can be used to detect hot-spot regions in the search for a possible genetic marker for endometriosis. The objective of the present study was to detect chromosomal imbalances by comparative genomic hybridization (CGH) in ectopic tissue samples from o
Brazilian Journal of Medical and Biological Research. Publicado em: 2010-08
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5. Genomic imbalances in esophageal squamous cell carcinoma identified by molecular cytogenetic techniques
This review summarizes the chromosomal changes detected by molecular cytogenetic approaches in esophageal squamous cell carcinoma (ESCC), the ninth most common malignancy in the world. Whole genome analyses of ESCC cell lines and tumors indicated that the most frequent genomic gains occurred at 1, 2q, 3q, 5p, 6p, 7, 8q, 9q, 11q, 12p, 14q, 15q, 16, 17, 18p, 1
Genetics and Molecular Biology. Publicado em: 02/04/2010
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6. Hibridação genômica comparativa (CGH) em neoplasias gástricas de indivíduos do estado do Pará. / Comparative Genomic hybridization (CGH) in individuals from Northern Brazil with gastric adenocarcinoma.
Gastric adenocarcinoma is a serious public health concern, especially in the Northern Brazil. Gastric cancer can be subdivided into diffuse-type and intestinal-type. Genetic imbalances in diffuse-type gastric cancer remain largely unknown. In the present study, we analyzed 24 advanced diffuse-type gastric cancer samples from Northern Brazil subjects using hi
Publicado em: 2009
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7. Assessing the Molecular and Genetic Aspects of Squamous Cell Carcinoma of the Larynx / Avaliação Genético-Molecular do Carcinoma das Células Escamosas da Laringe
The larynx is a structure of the upper aerodigestive tract responsible for the production of sounds as well as protecting the lower airways and helping during the normal act of swallowing. Any pathology which affects the larynx can impose several challenges that disrupt its normal physiological function, and consequently and directly resulting in reduction o
Publicado em: 2009
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8. Clinical, genetic and molecular study of Rokitansky-Mayer-Küster-Hauser syndrome and related conditions / Estudo genético-clínico e molecular da síndrome de Rokitansky-Mayer-Küster-Hauser e condições afins
Background: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, comprising utero-vaginal atresia in otherwise phenotypically normal women with a normal karyotype (46,XX), has an incidence of about 1/5,000 among newborn girls. Anomalies of the genital tract range from upper vaginal atresia to total Müllerian agenesis (congenital absence of the Fallopian tubes,
Publicado em: 2008
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9. Chromosomal imbalances detected in primary bone tumors by comparative genomic hybridization and interphase fluorescence in situ hybridization
We applied a combination of comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH), to characterize the genetic aberrations in three osteosarcomas (OS) and one Ewing's sarcoma. CGH identified recurrent chromosomal losses at 10p14-pter and gains at 8q22.3-24.1 in OS. Interphase FISH allowed to confirm 8q gain in two cases. A hig
Genetics and Molecular Biology. Publicado em: 2003
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10. Microarray-Based Comparative Genomic Hybridization Using Sex-Matched Reference DNA Provides Greater Sensitivity for Detection of Sex Chromosome Imbalances than Array-Comparative Genomic Hybridization with Sex-Mismatched Reference DNA
In array-comparative genomic hybridization (array-CGH) experiments, the measurement of DNA copy number of sex chromosomal regions depends on the sex of the patient and the reference DNAs used. We evaluated the ability of bacterial artificial chromosomes/P1-derived artificial and oligonucleotide array-CGH analyses to detect constitutional sex chromosome imbal
American Society for Investigative Pathology.
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11. Automated array-based genomic profiling in chronic lymphocytic leukemia: Development of a clinical tool and discovery of recurrent genomic alterations
B cell chronic lymphocytic leukemia (B-CLL) is characterized by a highly variable clinical course. Recurrent chromosomal imbalances provide significant prognostic markers. Risk-adapted therapy based on genomic alterations has become an option that is currently being tested in clinical trials. To supply a robust tool for such large scale studies, we developed
National Academy of Sciences.
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12. Structural alterations of the aprt locus induced by deoxyribonucleoside triphosphate pool imbalances in Chinese hamster ovary cells.
Mutants induced at the adenine phosphoribosyl transferase (aprt) locus by dTTP or dCTP pool imbalances were examined for alterations in genomic DNA sequences. No observable changes were detected by Southern blot analysis of most mutant DNAs, suggesting induction of base pair alterations or other events below our level of detection (approximately 30 base pair