Inheritance Study
Mostrando 1-12 de 419 artigos, teses e dissertações.
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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
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2. Resistance of cacao tree to witches’ broom disease – A study of inheritance
RESUMO Foram avaliados durante 10 anos o número de vassouras vegetativas e de almofada floral em cada planta das progênies de cruzamentos em delineamento North Carolina II com os clones Ca 5, CAB 5003, Chuao 120, ICS 1, Moq 216, Scavina 12, Scavina 6 e SPA 5, no grupo 1 de progenitores e, CC 10, CCN 34, Cepec 90, CSul 3, Ma 16, RB 36, SGu 26 e SIAL 70 no g
Summa Phytopathologica. Publicado em: 2022
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3. 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
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4. 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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5. The rs11755527 polymorphism in the BACH2 gene and type 1 diabetes mellitus: case control study in a Brazilian population
ABSTRACT Objective Type 1 diabetes mellitus (T1DM) is an autoimmune disorder caused by a complex interaction between environmental and genetic risk factors. BTB domain and CNC homolog 2 (BACH2) gene encodes a transcription factor that acts on the differentiation and formation of B and T lymphocytes. BACH2 is also involved in the suppression of apoptosis an
Arch. Endocrinol. Metab.. Publicado em: 2020-04
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6. Avance genético y políticas de anonimato
Resumo Nos últimos anos, o número de tratamentos de reprodução assistida com doação de gametas (óvulos e/ou espermatozoides) aumentou na Argentina. A filiação por técnicas de reprodução assistida heteróloga interroga a tradicional “herança sanguínea”, objeto de estudo privilegiado das ciências sociais. Nas últimas décadas, o paradigma d
Rev. Bioét.. Publicado em: 10/01/2020
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7. Resistance of the wild tomato Solanum habrochaites to Phytophthora infestans is governed by a major gene and polygenes
Abstract: This work aimed to study the inheritance of resistance to Phytophthora infestans in tomato plants, using the maximum likelihood estimation function. The susceptible cultivar Santa Clara (Solanum lycopersicum) was used as the female genitor and the P. infestans resistant S. habrochaites f. glabratum accession (BGH 6902) as the male genitor. F1 plant
An. Acad. Bras. Ciênc.. Publicado em: 11/11/2019
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8. Estimates of genetic parameters of pigments and agronomic traits in green and purple lettuce
RESUMO O entendimento da genética e das interações gênicas envolvidas na expressão de determinadas características se torna um fator determinante para a melhor exploração seu uso. Este desconhecimento das bases genéticas envolvidas impacta diretamente no desenvolvimento de programas de melhoramento que aliem uma ou mais características desejáveis
Ciênc. agrotec.. Publicado em: 30/09/2019
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9. NOMEAÇÃO E PECADO ORIGINAL EM LACAN: UM RECORTE A PARTIR DOS TESTEMUNHOS DE DESCENDENTES DE NAZISTAS NOTÓRIOS
RESUMO: O artigo investiga a relação entre nomeação e herança a partir da constatação lacaniana de que o sobrenome é símbolo do quinhão ao qual o sujeito tem acesso: o pecado dos pais tal como Kierkegaard o designa. Ao examinar a nomeação e o pecado herdado em Kierkegaard à luz da psicanálise, observamos aproximações entre esses elementos que
Ágora (Rio J.). Publicado em: 23/09/2019
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10. [PROVISIONAL] -866G/A and Ins/Del polymorphisms in the UCP2 gene and diabetic kidney disease: case-control study and meta-analysis
Abstract Uncoupling protein 2 (UCP2) decreases reactive oxygen species (ROS) formation by mitochondria. ROS overproduction is a key contributor to the pathogenesis of diabetic kidney disease (DKD). Thus, UCP2 polymorphisms are candidate risk factors for DKD; however, their associations with this complication are still inconclusive. Here, we describe a case-c
Genet. Mol. Biol.. Publicado em: 02/09/2019
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11. Inheritance of leaf color in papaya
Abstract Physiological disturbances are one of the major bottlenecks to the expansion of papaya crops due to the negative influence on fruit quality. Studies on genotypes of light-green color have become essential to the development of strategies of tolerance to the physiological disorder skin freckle. Understanding the inheritance of qualitative traits is c
Crop Breed. Appl. Biotechnol.. Publicado em: 01/08/2019
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12. Mucopolysaccharidosis: Caregiver Quality of Life
Abstract The mucopolysaccharidoses (MPSs) are a group of rare genetic diseases caused by a deficiency of specific enzymes involved in catabolism of glycosaminoglycans, which causes multisystem abnormalities. Quality of life (QoL) is directly associated with physical, mental, and psychological well-being and with social relationships, including family and fri
J. inborn errors metab. screen.. Publicado em: 19/06/2019