Hereditary Pattern
Mostrando 1-12 de 75 artigos, teses e dissertações.
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1. Hereditary angioedema: a disease seldom diagnosed by pediatricians
Abstract Objectives: To describe the hereditary angioedema to improve awareness of this condition and reduce diagnostic delay. Data sources: Relevant articles in the MEDLINE database through PubMed. Data synthesis: Hereditary angioedema is rare and has an autosomal dominant pattern of inheritance. Its onset occurs mainly in childhood, but there is an impo
J. Pediatr. (Rio J.). Publicado em: 2021-04
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2. DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations
Li-Fraumeni syndrome (LFS) is a rare, autosomal dominant, hereditary cancer predisposition disorder. In Brazil, the p.R337H TP53 founder mutation causes the variant form of LFS, Li-Fraumeni-like syndrome. The occurrence of cancer and age of disease onset are known to vary, even in patients carrying the same mutation, and several mechanisms such as genetic an
Braz J Med Biol Res. Publicado em: 28/04/2015
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3. Incidência das Agenesias de dentes permanentes na população de Uberlândia - MG
A agenesia dental é uma das principais anomalias de desenvolvimento dentário pois, apresentam reflexos na estética e na função mastigatória. Este trabalho verificou a prevalência e o comportamento hereditário das agenesias em dentes permanentes na população de Uberlândia - MG, realizado com pacientes selecionados em 9.407 laudos de exames radiogr�
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 25/02/2011
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4. Avaliação toxicológica subcrônica de dieta cetogênica à base de trienantina em ratos jovens. / Subchronic toxicologicalevaluation of a ketogenic diet based upon trienantin in rats.
The classic ketogenic diet, rich in long chain triacylglycerols (LCT), is characterised by a high concentration of lipids and a low concentation of carbohydrates and proteins, promoting ketonemia and ketonuria, a property used in the treatment of disorders that affect cerebral metabolism and function, for example epilepsy resistant to medication. Medium chai
Publicado em: 2007
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5. Prevalence of the A1555G (12S rRNA) and tRNA Ser(UCN) mitochondrial mutations in hearing-impaired Brazilian patients
Mitochondrial mutations are responsible for at least 1% of the cases of hereditary deafness, but the contribution of each mutation has not yet been defined in African-derived or native American genetic backgrounds. A total of 203 unselected hearing-impaired patients were screened for the presence of the mitochondrial mutation A1555G in the 12S rRNA gene and
Brazilian Journal of Medical and Biological Research. Publicado em: 2006-02
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6. Mecanismos reguladores da sintese de globinas : avaliação funcional da região R/PYR e analise da expressão genica diferencial na persistencia hereditaria de hemoglobina fetal e na delta-beta talassemia / Regulatory mechanisms of globin syntheis : functional evaluation of R/PYR region and differential gene expression analysis in hereditary persistence of etal hemoglobin and delta-beta thalassemia
The genetic mechanisms underlying the continued expression of the ?-globin genes during the adult stage in deletional hereditary persistence of fetal hemoglobin (HPFH) and ??-thalassemias are not completely understood. For deletional HPFH, three main hypotheses were proposed to explain the relationship between these deletions and the non-suppression of ? -ge
Publicado em: 2006
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7. Hereditary motor and autonomic neuronopathy 1 maps to chromosome 20q13.2-13.3
The spinal muscular atrophies (SMA) or hereditary motor neuronopathies result from the continuous degeneration and death of spinal cord lower motor neurons, leading to progressive muscular weakness and atrophy. We describe a large Brazilian family exhibiting an extremely rare, late-onset, dominant, proximal, and progressive SMA accompanied by very unusual ma
Brazilian Journal of Medical and Biological Research. Publicado em: 2004-11
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8. Pesquisa de mutações no gene CDKN2A em pacientes com critérios clínicos de melanoma hereditário. / Search for mutations in the CDKN2A gene in patients with clinical pattern of hereditary melanoma.
A incidência do melanoma, tumor maligno que se origina dos melanócitos, vem crescendo em todo o mundo. História familial positiva da doença tem sido relatada em 8 a 14% dos pacientes afetados. Muitos estudos sugeriram o envolvimento da região 9p21, onde se encontra o gene CDKN2A, no surgimento dessa neoplasia. Este é um gene supressor tumoral clássico
Publicado em: 2004
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9. Development of a multiplex ARMS test for mutations in the HFE gene associated with hereditary haemochromatosis.
Genetic testing for hereditary haemochromatosis is likely to be a significant workload for diagnostic laboratories. The C282Y and H63D mutations in the HFE gene associated with hereditary haemochromatosis have previously been detected using a number of methods including alterations in the restriction digest pattern of polymerase chain reaction (PCR) amplifie
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10. Pattern visual evoked responses in hereditary spastic paraplegia
Pattern visual evoked responses were studied in 13 patients from nine families with dominant herditary spastic paraplegia and in seven sporadic cases. The responses were normal in all the dominantly inherited cases but abnormal in three of the seven sporadic cases.
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11. Erythrocyte Energy Metabolism in Hereditary Spherocytosis*
The incorporation of extracellular orthophosphate-32P into cellular ATP, 2,3-diphosphoglyceric acid, and inorganic phosphate has been measured over a period of 6 hours in vitro in red blood cells from normal subjects and from patients with hereditary spherocytosis who had undergone splenectomy. The pattern of labeling of the intracellular compounds was found
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12. Genome-wide identification of genes likely to be involved in human genetic disease
Sequence analysis of the group of proteins known to be associated with hereditary diseases allows the detection of key distinctive features shared within this group. The disease proteins are characterized by greater length of their amino acid sequence, a broader phylogenetic extent, and specific conservation and paralogy profiles compared with all human prot
Oxford University Press.