Phenotype
Mostrando 1-12 de 14997 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. Disseminated mature T-cell phenotype CD4/CD8 double-negative mycosis fungoides with pleural involvement
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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3. Simultaneous mixed phenotype and neuroimaging of progressive supranuclear palsy, progressive ataxia and palatal tremor: two different faces of tauopathies
Arquivos de Neuro-Psiquiatria. Publicado em: 2022
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4. High prevalence of serological weak D phenotype and preponderance of weak D type 4.0.1. genetic variant in a Nigerian population: implications for transfusion practice in a resource-limited setting
ABSTRACT Introduction: Prevalence of RhD negative phenotype in Nigeria is low; this leads to scarcity of RhD negative red cells for transfusion. Serological and molecular genotyping of RhD negative individuals for weak D types could reduce this scarcity. The aim of this study was to determine the serological prevalence and molecular types of weak D phenotyp
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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5. Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies
Abstract Objectives: Cystic fibrosis (CF) is a severe autosomal recessive disease that results from mutations in a gene encoding the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein, a chloride channel. This study aims to characterize the clinical and genetic features of a cohort of pediatric people with CF (PwCF) in the center of Portugal
Jornal de Pediatria. Publicado em: 2022
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6. Relationships between self-reported dyspnea, health conditions and frailty among Brazilian community-dwelling older adults: a cross-sectional study
ABSTRACT CONTEXT: Dyspnea is a symptom present in several chronic diseases commonly seen among older adults. Since individuals with dyspnea tend to stay at rest, with consequently reduced levels of physical activity, they are likely to be at greater risk of developing frailty, especially at older ages. DESIGN AND SETTING: Cross-sectional study at community
Sao Paulo Medical Journal. Publicado em: 2022
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7. HFE hemochromatosis: an overview about therapeutic recommendations
Abstract Hemochromatosis is currently characterized by the iron overload caused by hepcidin deficiency. Large advances in the knowledge on the hemochromatosis pathophysiology have occurred due to a better understanding of the protein of the iron metabolism, the genetic basis of hemochromatosis and of other iron overload diseases or conditions which can lead
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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8. Normocalcemic primary hyperparathyroidism
ABSTRACT Normocalcemic primary hyperparathyroidism (PHPT) is a newer phenotype of PHPT defined by elevated PTH concentrations in the setting of normal serum calcium levels. It is increasingly being diagnosed in the setting of evaluation for nephrolithiasis or metabolic bone diseases. It is important to demonstrate that PTH values remain consistently elevated
Archives of Endocrinology and Metabolism. Publicado em: 2022
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9. Self-pollination of the orchid Cycnoches haagii from Brazilian Cerrado results in albino phenotype seedlings
Resumo Cycnoches haagii é uma orquídea epífita alvo de muitos coletores, mas nenhuma referência foi encontrada na literatura sobre sua biologia reprodutiva. Assim, o objetivo deste estudo foi obter informações preliminares sobre os tipos de polinização e sua influência na viabilidade das sementes desta orquídea nativa do Cerrado brasileiro, a fim d
Ornamental Horticulture. Publicado em: 2022
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10. The impact of the genetic background in a patient with papillary thyroid cancer and familial adenomatous polyposis
SUMMARY Thyroid cancer is the most common endocrine malignancy, and papillary thyroid carcinoma (PTC) is the main subtype. The cribriform morular variant is a histological phenotype of PTC characterized by its relationship with familial adenomatous polyposis (FAP). Description of the case: We report the genetic assessment of a 20-year-old female patient diag
Archives of Endocrinology and Metabolism. Publicado em: 2022
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11. From clinical phenotype to proteinopathy: molecular neuroimaging in neurodegenerative dementias
RESUMO As demências neurodegenerativas caracterizam-se pelo acúmulo anormal de proteínas mal dobradas. Entretanto, os seus critérios diagnósticos ainda se baseiam no fenótipo clínico. O desenvolvimento de biomarcadores permitiu a detecção in vivo do processo fisiopatológico. O objetivo deste artigo é fazer uma revisão não-sistemática sobre o pa
Arquivos de Neuro-Psiquiatria. Publicado em: 2022
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12. Comparison of clinical characteristics of wild-type SARS-CoV-2 and Omicron
SUMMARY OBJECTIVE: This study aimed to investigate the effect of mutations by comparing wild-type SARS-CoV-2 and Omicron regarding clinical features in patients with COVID-19. It also aimed to assess whether SARS-CoV-2 cycle threshold value could predict COVID-19 severity. METHODS: A total of 960 wild-type and 411 Omicron variant patients with positive res
Revista da Associação Médica Brasileira. Publicado em: 2022