Inheritance Patterns
Mostrando 1-12 de 134 artigos, teses e dissertações.
-
1. Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder
Objective: Bipolar disorder is a heritable chronic mental disorder that causes psychosocial impairment through depressive/manic episodes. Familial transmission of bipolar disorder does not follow simple Mendelian patterns of inheritance. The aim of this study was to describe a large family with 12 members affected by bipolar disorder. Whole-exome sequencing
Brazilian Journal of Psychiatry. Publicado em: 2023
-
2. Genetic-molecular characterization in the diagnosis of primary immunodeficiencies
Abstract Objectives: To rescue medical genetics concepts that are necessary to understand the advances in the genetic-molecular characterization of primary immunodeficiencies, to help in the understanding and adequate interpretation of their results. Source of data: Non-systematic literature review, searching for articles since 2000 on PubMed using the ter
J. Pediatr. (Rio J.). Publicado em: 2021-04
-
3. Orthodontics and Genetics
Resumo Introdução: a genética tem sido proposta como uma explicação para a ocorrência das más oclusões, mas isso é questionável, pois a percepção do significado de herança genética está vinculada à herança mendeliana ou monogênica. Objetivo: o presente artigo visa discorrer sobre a herança das más oclusões e ressaltar as áreas do con
Dental Press J. Orthod.. Publicado em: 20/05/2019
-
4. Diversity of clinical, radiographic and genealogical findings in 41 families with amelogenesis imperfecta
Abstract Amelogenesis imperfecta (AI) is a group of enamel development disorders that alter the structure and chemical composition of the tissue. There is great variability in the clinical presentation; according to Witkop, AI can be categorized into 14 subtypes, which makes its diagnosis extremely complex. Objective: This study aimed to describe and determ
J. Appl. Oral Sci.. Publicado em: 01/04/2019
-
5. Association of caspase-1 polymorphisms with Chagas cardiomyopathy among individuals in Santa Cruz, Bolivia
Abstract INTRODUCTION: Trypanosoma cruzi (Tc) infection is usually acquired in childhood in endemic areas, leading to Chagas disease, which progresses to Chagas cardiomyopathy in 20-30% of infected individuals over decades. The pathogenesis of Chagas cardiomyopathy involves the host inflammatory response to T. cruzi, in which upstream caspase-1 activation p
Rev. Soc. Bras. Med. Trop.. Publicado em: 2017-08
-
6. Impact of the age of Biomphalaria alexandrina snails on Schistosoma mansoni transmission: modulation of the genetic outcome and the internal defence system of the snail
Of the approximately 34 identified Biomphalaria species, Biomphalaria alexandrina represents the intermediate host of Schistosoma mansoni in Egypt. Using parasitological and SOD1 enzyme assay, this study aimed to elucidate the impact of the age of B. alexandrina snails on their genetic variability and internal defence against S. mansoni infection. Susceptibl
Mem. Inst. Oswaldo Cruz. Publicado em: 09/06/2015
-
7. Inheritance patterns and identification of microsatellite markers linked to the rice blast resistance in BC2F1 population of rice breeding
The BC2F1 population was derived from a cross between rice variety, MR219 (susceptible to blast) and Pongsu Seribu 1 (resistant to blast). The objectives of this research were to know the inheritance pattern of blast resistance and to identify the linked markers associated with blast resistance in BC2F1 population. Sixteen microsatellite markers were found a
Bragantia. Publicado em: 2015-03
-
8. Acquired hyperpigmentations
Cutaneous hyperpigmentations are frequent complaints, motivating around 8.5% of all dermatological consultations in our country. They can be congenital, with different patterns of inheritance, or acquired in consequence of skin problems, systemic diseases or secondary to environmental factors. The vast majority of them are linked to alterations on the pigmen
An. Bras. Dermatol.. Publicado em: 2014-01
-
9. Clinical and molecular analysis of the enamelin gene ENAM in Colombian families with autosomal dominant amelogenesis imperfecta
In this study, we analyzed the phenotype, clinical characteristics and presence of mutations in the enamelin gene ENAM in five Colombian families with autosomal dominant amelogenesis imperfecta (ADAI). 22 individuals (15 affected and seven unaffected) belonging to five Colombian families with ADAI and eight individuals (three affected and five unaffected) be
Genetics and Molecular Biology. Publicado em: 2012
-
10. A conceptual model for metadata-based frameworks.
Framework can be considered an incomplete software with some points that can be specialized to add application-specific behavior, allowing not only source code reuse but also design reuse. Techniques for developing frameworks evolved, starting from the usage of inheritance and composition and passing through more sophisticated ones, such as reflection and in
Publicado em: 2010
-
11. Host genetic and epigenetic factors in toxoplasmosis
Analysing human genetic variation provides a powerful tool in understanding risk factors for disease. Toxoplasma gondii acquired by the mother can be transmitted to the fetus. Infants with the most severe clinical signs in brain and eye are those infected early in pregnancy when fetal immunity is least well developed. Genetic analysis could provide unique in
Memórias do Instituto Oswaldo Cruz. Publicado em: 2009-03
-
12. Contribuição para a caracterização clínica das ataxias hereditárias autossômicas recessivas / Contribution to clinical characterization of autosomal recessive hereditary ataxias
As ataxias hereditárias autossômicas recessivas compõem um grupo de doenças heterogêneas, que necessitam de criteriosa avaliação clínica, de exames complementares e, algumas vezes, de testes genéticos para o diagnóstico. A partir da revisão da literatura, foi elaborado um algoritmo para auxiliar a investigação diagnóstica deste grupo. Esta tese
Publicado em: 2009