Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Simone M. de Castro"'
Autor:
Cristiane Kopacek, Mayara J. Prado, Claudia M.D. da Silva, Simone M. de Castro, Luciana A. Beltrão, Paula R. Vargas, Tarciana Grandi, Maria L.R. Rossetti, Poli Mara Spritzer
Publikováno v:
Jornal de Pediatria (Versão em Português), Vol 95, Iss 3, Pp 282-290 (2019)
Objective: To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases. Methods: A cross-sectional study
Externí odkaz:
https://doaj.org/article/494967c3f98e4641899513715c6bfa25
Autor:
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
Publikováno v:
Genetics and Molecular Biology, Vol 33, Iss 4, Pp 641-645 (2010)
Alpha thalassemia has not been systematically investigated in Brazil. In this study, 493 unrelated individuals from the southernmost Brazilian state of Rio Grande do Sul were screened for deletional forms of α-thalassemia. One hundred and one indivi
Externí odkaz:
https://doaj.org/article/28be7704bd204e4eb94a888198278ad3
Publikováno v:
Genetics and Molecular Biology, Vol 30, Iss 1, Pp 10-13 (2007)
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 individuals are asymptomatic, there is a risk of neonatal jaundice and acute hemolytic anemia
Externí odkaz:
https://doaj.org/article/84d09f67f66843458889159781b2c193
Publikováno v:
Jornal Brasileiro de Patologia e Medicina Laboratorial, Vol 42, Iss 2, Pp 77-84 (2006)
As leucemias agudas caracterizam-se pela proliferação clonal e pelo bloqueio maturativo das células hematopoéticas, com substituição difusa da medula óssea por células neoplásicas. A leucemia mielóide aguda (LMA) é um grupo heterogêneo de
Externí odkaz:
https://doaj.org/article/efb77dd027d8449d8c75285a255d1762
Publikováno v:
Genetics and Molecular Biology, Vol 39, Iss 4, Pp 515-523
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 disequilibrium with five main haplotypes in the β-globin-like gene cluster named according to th
Externí odkaz:
https://doaj.org/article/8ad11796db7c46dd9868dba2333425bc
Publikováno v:
Genetics and Molecular Biology, Iss 0
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 disequilibrium with five main haplotypes in the β-globin-like gene cluster named according to th
Externí odkaz:
https://doaj.org/article/d97f2cd116094da2a4e2cf446e8a3852