Sequencing
Mostrando 1-12 de 8958 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. Exome sequencing of 500 Brazilian patients with rare diseases: what we have learned
Sao Paulo Medical Journal. Publicado em: 2022
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3. Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome
SUMMARY OBJECTIVE: Chronic kidney disease (CKD) remains one of the major common health problems, and the number of people affected by the disease is progressively increasing in Turkey and worldwide. This study aimed to investigate molecular defects in Alport syndrome (AS) and other genes in patients with clinically suspected CKD using whole-exome sequencing
Revista da Associação Médica Brasileira. Publicado em: 2022
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4. Characterization of Fusarium spp. causal agent of wilt in pecan
ABSTRACT One of the limiting factors for pecan production is the incidence of disease caused by Fusarium spp. which are a threat to orchards in the south of the country. Therefore, the study aimed to confirm the pathogenicity and evaluate the morphophysiological and molecular characteristics of Fusarium spp. associated with pecan in Rio Grande do Sul and Par
Revista Ceres. Publicado em: 2022
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5. Association of FAAH p.Pro129Thr and COMT p.Ala72Ser with schizophrenia and comorbid substance use through next-generation sequencing: an exploratory analysis
Objective: Individuals with schizophrenia and substance use disorders have a poor prognosis and increased psychiatric symptoms. The present study aimed to explore the association of 106 genes in individuals with schizophrenia and comorbid substance use through a next-generation sequencing (NGS) analysis and different in silico algorithms. Methods: We includ
Brazilian Journal of Psychiatry. Publicado em: 2022
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6. Deep dermatophytosis caused by Trichophyton rubrum in immunocompromised patients
Abstract In immunosuppressed patients, dermatophytosis can be more invasive, affecting the dermis and subcutaneous tissues. The authors describe the cases of two patients with kidney and heart transplanted, respectively, that developed a deep dermatophytosis caused by Trichophyton rubrum, confirmed by culture and DNA sequencing. Both patients had concomitant
Anais Brasileiros de Dermatologia. Publicado em: 2022
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7. Link between obsessive-compulsive disorder and polymorphisms in HDAC genes
Objective: Recently, epigenetic mechanisms related to histone modifications including histone deacetylation (HDAC) have been emphasized in psychiatric diseases. Few studies have investigated the relationship of HDAC gene variations to psychiatric diseases, but these gene variations have never been studied in obsessive-compulsive disorder (OCD). The present c
Brazilian Journal of Psychiatry. Publicado em: 2022
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8. 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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9. Choir Singing Practice and Temporal Ordering in the Elderly
Abstract Introduction The importance of temporal ordering and sequencing in the auditory system is discussed because these are considered basic functions for language. Objective To verify the correlation between the practice of choir music and the temporal ordering in elderly with no prior formal musical experience. Method The study design is cross-sectio
International Archives of Otorhinolaryngology. Publicado em: 2022
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10. Central Auditory Processing and Cognitive Functions in Children
Abstract Introduction Nowadays, there is no consensus on whether central auditory processing disorder is a primary or a secondary deficit to other cognitive deficits. A better understanding of the association between cognitive functions and central auditory skills may help elucidate this dilemma. Objective To investigate possible associations between audit
International Archives of Otorhinolaryngology. Publicado em: 2022
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11. High-frequency devices effect in vitro: promissing approach in the treatment of acne vulgaris?
Abstract Background: Acne vulgaris is an inflammatory skin disorder leading to an impairment of quality of life and is therefore not only a cosmetic issue. Its pathogenesis is multifactorial - of particular importance is the colonization with the bacterium Propionibacterium acnes. A wide range of different treatment options exists including topical and syst
Anais Brasileiros de Dermatologia. Publicado em: 2022
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12. Smudge cells percentage on blood smear is a reliable prognostic marker in chronic lymphocytic leukemia
Abstract Objective We evaluated the relevance of using the smudge cell percentage in the blood smear as a prognostic marker in CLL. Methods In this prospective study, 42 untreated Senegalese patients with CLL were enrolled. The diagnosis was established, based on the peripheral blood count and flow cytometry using the Matutes score. Cytogenetic aberrations
Hematology, Transfusion and Cell Therapy. Publicado em: 2022