Search Results - "Vieira, Emília"

New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy by Santos, Rosário, Gonçalves, Ana, Oliveira, Jorge, Vieira, Emília, Vieira, José Pedro, Evangelista, Teresinha, Moreno, Teresa, Santos, Manuela, Fineza, Isabel, Bronze-da-Rocha, Elsa

“…Molecular characterization of patients with Duchenne or Becker muscular dystrophies is essential for establishing a differential diagnosis, allowing…”
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Copy number variation in the susceptibility to systemic lupus erythematosus by Barbosa, Fernanda Bueno, Simioni, Milena, Wiezel, Cláudia Emília Vieira, Torres, Fábio Rossi, Molck, Miriam Coelho, Bonilla, Melvin M, de Araujo, Tânia Kawasaki, Donadi, Eduardo Antônio, Gil-da-Silva-Lopes, Vera Lúcia, Lemos, Bernardo, Simões, Aguinaldo Luiz

“…Systemic lupus erythematosus (SLE) is an autoimmune disease with a strong genetic component and etiology characterized by chronic inflammation and autoantibody…”
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Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51 by Santos, Rosário, Oliveira, Jorge, Vieira, Emília, Coelho, Teresa, Carneiro, António Leite, Evangelista, Teresinha, Dias, Cristina, Fortuna, Ana, Geraldo, Argemiro, Negrão, Luís, Guimarães, António, Bronze-da-Rocha, Elsa

“…The allelic muscle disorders known as limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy and distal anterior compartment myopathy result from…”
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Genomic ancestry of a sample population from the state of São Paulo, Brazil by Ferreira, Luzitano Brandão, Mendes -Junior, Celso Teixeira, Wiezel, Cláudia Emília Vieira, Luizon, Marcelo Rizzatti, Simões, Aguinaldo Luiz

“…Allelic frequencies of eight autosomal short‐tandem repeat (STR) loci (TH01, TPOx, CSF1PO, vWA, FES/FPS, F13A1, F13B, and CD4) were determined in 400…”
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Bilirubin levels and redox status in a young healthy population by Rodrigues, Carina, Rocha, Susana, Nascimento, Henrique, Vieira, Emília, Santos, Rosário, Santos-Silva, Alice, Costa, Elísio, Bronze-da-Rocha, Elsa

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Identification of a novel deletion in UDP-glucuronosyltransferase gene in a patient with Crigler–Najjar syndrome type I by Costa, Elísio, Vieira, Emília, Lopes, Ana Isabel, Saldanha, Maria Joana, Brites, Dora, dos Santos, Rosário

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Bilirubin Dependence on UGT1A1 Polymorphisms, Hemoglobin, Fasting Time and Body Mass Index by Rodrigues, Carina, MSc, Costa, Elísio, PhD, Vieira, Emília, MSc, Santos, Rosário, MSc, De Carvalho, João, MD, Rocha-Pereira, Petronila, PhD, Santos-Silva, Alice, PhD, Bronze-da-Rocha, Elsa, PhD

“…In humans, bilirubin levels are influenced by different factors. This study evaluates how several nongenetic causes and the genetic UGT1A1 polymorphisms…”
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Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome by Bueno, Ana Laura Andrade, de Souza, Maria Emilia Vieira, Graziadio, Carla, Kiszewski, Ana Elisa

“…Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy…”
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Squamous cell carcinoma superimposed on necrobiosis lipoidica: a rare complication by Souza, Maria Emilia Vieira de, Recuero, Julia Kanaan, Santos, Manoella Freitas, Bonamigo, Renan Rangel

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Multimorbidity associated with anxiety symptomatology in post-COVID patients by Azevedo, Milena Nogueira, Rodrigues, Elisângela da Silva, Passos, Emília Augusta Franz Vieira, Filho, Márcio Andrade Barreto, Barreto, Ana Paula Andrade, Lima, Marcelo Chalhoub Coelho, Barreto, Mauricio Lima, Castro-de-Araujo, Luis Fernando Silva

“…•Few studies have described post-covid conditions in a population, mainly de low/middle-income country.•Multimorbidity was significantly associated with…”
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Y-STR diversity and ethnic admixture in White and Mulatto Brazilian population samples by Ferreira, Luzitano Brandão, Mendes-Junior, Celso Teixeira, Wiezel, Cláudia Emília Vieira, Luizon, Marcelo Rizzatti, Simões, Aguinaldo Luiz

“…We investigated 50 Mulatto and 120 White Brazilians for the Y-chromosome short tandem repeat (Y-STR) markers (DYS19, DYS390, DYS391, DYS392 and DYS393) and…”
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Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil by Carolina de Aguiar Fracasso, Nádia, Santos de Andrade, Edilene, Emília Vieira Wiezel, Cláudia, Caixeta Franco Andrade, Cláudia, Renata Zanão, Lídia, Spinelli da Silva, Mateus, Arduino Marano, Leonardo, Antônio Donadi, Eduardo, da Cruz Castelli, Erick, Luiz Simões, Aguinaldo, Teixeira Mendes-Junior, Celso

“…Highlights • SLC45A2 encodes a membrane-bound melanosomal protein involved in pigmentation. • L374F has the 374F allele almost fixed in Europe and 374L in the…”
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Molecular Characterization of a Portuguese Patient with Shwachman‐Diamond Syndrome by Lima, Rosa M, Costa, Elísio, Rocha, Cristina, Vieira, Emília, Santos, Rosário, Barbot, José, Rocha, Herculano

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LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin‐α2 variome and its related phenotypes by Oliveira, Jorge, Gruber, Angela, Cardoso, Márcio, Taipa, Ricardo, Fineza, Isabel, Gonçalves, Ana, Laner, Andreas, Winder, Thomas L., Schroeder, Jocelyn, Rath, Julie, Oliveira, Márcia E., Vieira, Emília, Sousa, Ana Paula, Vieira, José Pedro, Lourenço, Teresa, Almendra, Luciano, Negrão, Luís, Santos, Manuela, Melo‐Pires, Manuel, Coelho, Teresa, den Dunnen, Johan T., Santos, Rosário, Sousa, Mário

“…Congenital muscular dystrophy type 1A (MDC1A) is one of the main subtypes of early‐onset muscle disease, caused by disease‐associated variants in the…”
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Validade de constructo da escala Condições do Ambiente e Características de Aprendizagem na Universidade (CACAU) by Thiago Ferreira de Sousa, Silvio Aparecido Fonseca, Emília Peixoto Vieira, Ayalla Oliveira Chaves, Juarez Vieira do Nascimento, Ana Maria Alvarenga

“…O uso de medidas, com propriedades psicométricas satisfatórias, em pesquisas sobre a percepção dos universitários em relação à qualidade das instituições é…”
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Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects by Rodrigues, Carina, Vieira, Emília, Santos, Rosário, de Carvalho, João, Santos-Silva, Alice, Costa, Elísio, Bronze-da-Rocha, Elsa

“…The Gilbert syndrome is a benign form of unconjugated hyperbilirubinemia, mainly associated with alterations in UGT1A1 gene. This work investigated the effect…”
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Adipokine Gene Single-Nucleotide Polymorphisms in Portuguese Obese Adolescents: Associations with Plasma Concentrations of Adiponectin, Resistin, IL-6, IL-1β, and TNF-α by Nascimento, Henrique, Vieira, Emília, Coimbra, Susana, Catarino, Cristina, Costa, Elísio, Bronze-da-Rocha, Elsa, Rocha-Pereira, Petronila, Carvalho, Márcia, Ferreira Mansilha, Helena, Rêgo, Carla, Dos Santos, Rosário, Santos-Silva, Alice, Belo, Luís

“…The genetic contribution to obesity and to circulating adipokine levels has not been completely clarified. We aimed to evaluate adipokine genes'…”
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The polymorphism c.-3279T>G in the phenobarbital- responsive enhancer module of the bilirubin UDP- glucuronosyltransferase gene is associated with gilbert syndrome by COSTA, Elisio, VICIRA, Emilia, DOS SANTOS, Rosario

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Genomic ancestry in urban Afro-Brazilians by Muniz, Yara Costa Netto, Ferreira, Luzitano Brandão, Mendes-Junior, Celso Teixeira, Wiezel, Cláudia Emília Vieira, Simões, Aguinaldo Luiz

“…Brazil is the result of interethnic crosses of European, African and Amerindian populations. Allelic frequencies for seven STR loci (TH01, TPOx, CSF1PO, vWA,…”
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Oxidized low-density lipoprotein and lipoprotein(a) levels in chronic kidney disease patients under hemodialysis: Influence of adiponectin and of a polymorphism in the apolipoprotein(a) gene by Ribeiro, Sandra, Faria, Maria do Sameiro, Silva, Gil, Nascimento, Henrique, Rocha-Pereira, Petronila, Miranda, Vasco, Vieira, Emília, Santos, Rosário, Mendonça, Denisa, Quintanilha, Alexandre, Costa, Elísio, Belo, Luís, Santos-Silva, Alice

“…Chronic kidney disease (CKD) has been associated with an abnormal lipid profile. Our aim was to study the interplay between oxidized low‐density lipoprotein…”
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