Search Results - "de Castro, Simone M."

The effects of old and recent migration waves in the distribution of HBBS globin gene haplotypes by Lindenau, Juliana D, Wagner, Sandrine C, Castro, Simone M de, Hutz, Mara H

“…Sickle cell hemoglobin is the result of a mutation at the sixth amino acid position of the beta (β) globin chain. The HBB*S gene is in linkage disequilibrium…”
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Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation by Kopacek, Cristiane, Prado, Mayara J., da Silva, Claudia M.D., de Castro, Simone M., Beltrão, Luciana A., Vargas, Paula R., Grandi, Tarciana, Rossetti, Maria L.R., Spritzer, Poli Mara

“…To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and…”
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Prevalence of common α-thalassemia determinants in south Brazil: Importance for the diagnosis of microcytic anemia by Wagner, Sandrine C, de Castro, Simone M, Gonzalez, Tatiana P, Santin, Ana P, Filippon, Leticia, Zaleski, Carina F, Azevedo, Laura A, Amorin, Bruna, Callegari-Jacques, Sidia M, Hutz, Mara H

“…Alpha thalassemia has not been systematically investigated in Brazil. In this study, 493 unrelated individuals from the southernmost Brazilian state of Rio…”
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High Frequency of Hb E-Saskatoon (HBB: c.67G > A) in Brazilians: A New Genetic Origin? by Wagner, Sandrine C., Lindenau, Juliana D., Castro, Simone M. de, Santin, Ana Paula, Zaleski, Carina F., Azevedo, Laura A., Ribeiro dos Santos, Ândrea K. C., dos Santos, Sidney E.B., Hutz, Mara H.

“…Hb E-Saskatoon [β22(B4)Glu→Lys, HBB: c.67G > A] is a rare, nonpathological β-globin variant that was first described in a Canadian woman of Scottish and Dutch…”
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Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in patients from the southern Brazilian city of Porto Alegre, RS by Castro, Simone M. de, Weber, Raquel, Matte, Úrsula, Giugliani, Roberto

“…Glucose-6-phosphate dehydrogenase (G6PDH; EC 1.1.1.49) deficiency is one of the most common human enzymopathies throughout the world. Although most affected…”
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Cystic Fibrosis: A Simple and Customized Strategy for Genetic Screening Able to Detect Over 90% of Identified Mutated Alleles in Brazilian Newborns by Rispoli, Thaiane, Rodrigues, Grazielle M., de Castro, Simone M., Prado, Mayara J., da Silva, Cláudia M. D., Grandi, Tarciana, Fischer, Gilberto B., Pinto, Leonardo A., Maróstica, Paulo J. C., Scortegagna, Laís C. R., Mocelin, Helena T., Vargas, José Eduardo, Rossetti, Maria L. R.

“…Introduction The incorporation of molecular genetic testing into cystic fibrosis (CF) screening programs increases the specificity of the diagnostic strategy…”
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Thalassemia major phenotypes secondary to the association of β 5′UTR +20(C→T) allele with β 39(C→T) by Fattori, André, Fertrin, Kleber Y., de Albuquerque, Dulcinéia M., Bezerra, Marcos A. C., Santos, Magnun N. N. dos, de Castro, Simone M., Costa, Fernando F.

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Identification of β thalassemia mutations in South Brazilians by Reichert, Vivian C. D., de Castro, Simone M., Wagner, Sandrine C., de Albuquerque, Dulcinéia M., Hutz, Mara H., Leistner-Segal, Sandra

“…We have evaluated the mutation profile in a sample of 127 unrelated β-thalassemia (β thal) individuals, diagnosed through A 2 and fetal hemoglobin…”
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Neonatal screening for hemoglobinopathies: results of a public health system in South Brazil by Wagner, Sandrine C, de Castro, Simone M, Gonzalez, Tatiana P, Santin, Ana Paula, Zaleski, Carina F, Azevedo, Laura A, Dreau, Hélène, Henderson, Shirley, Old, John, Hutz, Mara H

“…The aim of this study was to estimate the prevalence of hemoglobinopathies in South Brazil. Samples of dried blood spots collected by heel prick in neonates…”
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Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation by Kopacek, Cristiane, Prado, Mayara J., da Silva, Claudia M.D., de Castro, Simone M., Beltrão, Luciana A., Vargas, Paula R., Grandi, Tarciana, Rossetti, Maria L.R., Spritzer, Poli Mara

“…To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and…”
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Diagnóstico laboratorial das leucemias mielóides agudas by Silva, Graziele C. da, Pilger, Diogo A., Castro, Simone M. de, Wagner, Sandrine C.

“…As leucemias agudas caracterizam-se pela proliferação clonal e pelo bloqueio maturativo das células hematopoéticas, com substituição difusa da medula óssea por…”
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Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation by Kopacek, Cristiane, Prado, Mayara J., da Silva, Claudia M.D., de Castro, Simone M., Beltrão, Luciana A., Vargas, Paula R., Grandi, Tarciana, Rossetti, Maria L.R., Spritzer, Poli Mara

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Identification of [beta] thalassemia mutations in South Brazilians by Reichert, Vivian C; D, de Castro, Simone M, Wagner, Sandrine C, de Albuquerque, Dulcinéia M, Hutz, Mara H, Leistner-segal, Sandra

“…We have evaluated the mutation profile in a sample of 127 unrelated β-thalassemia (β thal) individuals, diagnosed through A2 and fetal hemoglobin…”
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Prevalence of common α-thalassemia determinants in south Brazil: importance for the diagnosis of microcytic anemia by Sandrine C. Wagner, Simone M. de Castro, Tatiana P. Gonzalez, Ana P. Santin, Leticia Filippon, Carina F. Zaleski, Laura A. Azevedo, Bruna Amorin, Sidia M. Callegari-Jacques, Mara H. Hutz

“…Alpha thalassemia has not been systematically investigated in Brazil. In this study, 493 unrelated individuals from the southernmost Brazilian state of Rio…”
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Diagnóstico laboratorial das leucemias mielóides agudas by Silva, Graziele C. da, Pilger, Diogo A., Castro, Simone M. de, Wagner, Sandrine C.

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Diagnóstico laboratorial das leucemias mielóides agudas Laboratory diagnosis of acute myeloid leukemias by Graziele C. da Silva, Diogo A. Pilger, Simone M. de Castro, Sandrine C. Wagner

“…As leucemias agudas caracterizam-se pela proliferação clonal e pelo bloqueio maturativo das células hematopoéticas, com substituição difusa da medula óssea por…”
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The effects of old and recent migration waves in the distribution of HBBS globin gene haplotypes by Juliana D. Lindenau, Sandrine C. Wagner, Simone M. de Castro, Mara H. Hutz

“…Abstract Sickle cell hemoglobin is the result of a mutation at the sixth amino acid position of the beta (β) globin chain. The HBB*S gene is in linkage…”
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Thalassemia major phenotypes secondary to the association of β 5'UTR +20(C → T) allele with β 39(C → T) by Fattori, André, Fertrin, Kleber Y, de Albuquerque, Dulcinéia M, Bezerra, Marcos A C, dos Santos, Magnun N N, de Castro, Simone M, Costa, Fernando F

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Determinação da acurácia do método qualitativo da medida da atividade da glicose-6-fosfato desidrogenase by Giovelli, Letícia L., Dal Bó, Suzane, Weber, Raquel, Santin, Ana Paula, Castro, Simone M.

“…A deficiência de glicose-6-fosfato desidrogenase (G6PD) é um problema de saúde pública que afeta aproximadamente 400 milhões de pessoas no mundo. No mercado,…”
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