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Akademický článek

Base molecular de uma beta-talassémia de transmissão dominante.

Autor: P Faustino, J Barbot, J Gonçalves, M J Peres, J Lavinha

Publikováno v: Acta Médica Portuguesa, Vol 12, Iss 7-11 (1999)

In this study, we sought to clarity the molecular basis of a dominant inherited beta-thalassemia, found in heterozygosity in a northern Portuguese family with thalassemia intermedia. We characterized: i) the alpha-globin gene cluster structure; ii) t

Externí odkaz: https://doaj.org/article/e3c6ea0e7dd34241a0321e6ba3418dd2

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Akademický článek

Cromossoma Y e infertilidade masculina.

Autor: J Gonçalves, J Lavinha

Publikováno v: Acta Médica Portuguesa, Vol 11, Iss 4 (1998)

Spermatogenesis is a complex physiological process characterized by an orderly proliferation and differentiation of germ cell types, from diploid spermatogonial stem cells to haploid spermatids, and after spermiogenesis to spermatozoa. It is known th

Externí odkaz: https://doaj.org/article/686e59475cd44ff4ba0d41b46758e60a

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Akademický článek

Mucoviscidose com sintomatologia respiratória no período neonatal.

Autor: S Lamy, L P da Silva, B Lopes, P Pacheco, J Lavinha, J M Amaral, J M Marques

Publikováno v: Acta Médica Portuguesa, Vol 10, Iss 2-3 (1997)

A case of cystic fibrosis presented in the neonatal period with respiratory symptomatology associated with early pancreatic insufficiency is reported. The CFTR gene molecular analysis was found to be a compound heterozygotes for delta F508 and G542X.

Externí odkaz: https://doaj.org/article/fee56ad87472455aa085044531382ae2

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Akademický článek

Rastreio neonatal de hemoglobinopatias numa população residente em Portugal.

Autor: M J Peres, M H Carreiro, M C Machado, T Seixas, I Picanço, L Batalha, J Lavinha, M C Martins

Publikováno v: Acta Médica Portuguesa, Vol 9, Iss 4-6 (1996)

The primary objective of newborn screening of hemoglobinopathies is the early identification of infants with sickle cell disease, as they are at increased clinical risk. Other goals include the identification of other types of clinically significant

Externí odkaz: https://doaj.org/article/38c4bbf9023040f8aed24f41c2e80854

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Akademický článek

Profilaxia das doenças hereditárias do eritrócito.

Autor: S Lamy, L Braga, P Pacheco, J Lavinha, G G da Costa, N C Ferreira

Publikováno v: Acta Médica Portuguesa, Vol 8, Iss 6 (1995)

The authors report the importance of not only all over the world but also in Portugal and, particularly, in Dona Estefânia Hospital. Some considerations are made about the usefulness of molecular biology methods in prenatal diagnosis. With this tool

Externí odkaz: https://doaj.org/article/b36abdafc4f44e7594cb122d03dd0ae1

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Akademický článek

Diagnóstico da hemoglobinopatia de Lepore por análise do DNA.

Autor: J Lavinha, V Sampaio, E da Mata

Publikováno v: Acta Médica Portuguesa, Vol 5, Iss 7 (1992)

We illustrate the application of recombinant DNA methods (namely Southern blotting) for the genotype diagnosis of haemoglobin Lepore Boston: the use of the restriction endonucleases PstI and XbaI along with a beta globin gene specific probe make it p

Externí odkaz: https://doaj.org/article/9742a180ae004761a2b9f4621c58ac94

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Akademický článek

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