Zobrazeno 1 - 10
of 180
pro vyhledávání: '"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
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
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
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
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
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
Akademický článek
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Autor:
Maurizio Roberto Longinotti, Georgios Loudianos, J Lavinha, Mario Pirastu, Stefania Murru, Paolo Moi, Antonio Cao, L Oggiano, P. Cossu, R Casu
Publikováno v:
Blood. 79:512-516
We have previously described a family of Northern Sardinian descent in which the propositus was affected by thalassemia major resulting from compound heterozygosity for codon 39 nonsense mutation and the beta +IVS II nt 745 mutation and in which all
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::910a00e8b1c769cbddaea64251a01da6
https://doi.org/10.1182/blood.v79.2.512.bloodjournal792512
https://doi.org/10.1182/blood.v79.2.512.bloodjournal792512
Publikováno v:
Hemoglobin. 16:503-509
In order to clarify the reasons for the reduced Hb A2 levels in Sardinian delta beta-thalassemia, we characterized, both by cloning and sequence analysis and by direct sequencing of amplified DNA, the delta-globin gene from an individual of Sardinian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7e1c4a1f8b33ad2a3fa076fa28e6658
https://doi.org/10.3109/03630269208993118
https://doi.org/10.3109/03630269208993118
Akademický článek
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