Zobrazeno 1 - 10
of 53
pro vyhledávání: '"L. Culpi"'
Autor:
E. L. S. de Souza, M. A. Santana, Fabio R. Faucz, L. Culpi, John A. Phillips, Francisco J.C. Reis, Salmo Raskin, Lilian Pereira-Ferrari, R. B. de Alexandre, Diego S. Souza, Vanessa Santos Sotomaior
Publikováno v:
Genetica. 145(1)
Cystic fibrosis (CF) is a common autosomal recessive disorder, being the p.F508del the most frequent mutation. Also, a nearby restriction fragment length polymorphism (RFLP) named XK (KM19 and XV2C) is non-randomly associated with specific CF alleles
Publikováno v:
Tissue Antigens. 56:417-427
Acknowledgments: This work was supported by the Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq) and FUNPAR-PRPPG/UFPR. We thank the Human Molecular Genetics Working Group, University of Parana, for comments. Abstract: HLA-A, -B a
Autor:
Lilian Pereira, Aline Andrade Freund, Raquel M.V. Castro, Patrícia D. Ribas, L. Culpi, Salmo Raskin, Pier F Pignatti
Publikováno v:
Genetics and Molecular Biology. 22:291-294
We screened 79 southern Brazilian patients with cystic fibrosis for the rare cystic fibrosis mutations R1162X and 2183AA®G. Forty-nine patients were born in the State of Paraná (PR) and 30 in the State of Santa Catarina (SC). Two 2183AA®G alleles
Autor:
Luiza T. Tsuneto, Angelica Beate Winter Boldt, Maria Luiza Petzl-Erler, L. Culpi, Jürgen F. J. Kun, Ilíada Rainha de Souza
Publikováno v:
Genetics and Molecular Biology, Volume: 32, Issue: 1, Pages: 12-19, Published: 16 JAN 2009
Genetics and Molecular Biology, Vol 32, Iss 1, Pp 12-19 (2009)
Genetics and Molecular Biology v.32 n.1 2009
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Vol 32, Iss 1, Pp 12-19 (2009)
Genetics and Molecular Biology v.32 n.1 2009
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
The CC chemokine receptor 5 (CCR5) molecule is an important co-receptor for HIV. The effect of the CCR5*D32 allele in susceptibility to HIV infection and AIDS disease is well known. Other alleles than CCR5*D32 have not been analysed before, neither i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b058ecad4e952ca5b511661236eb8869
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000100002&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000100002&lng=en&tlng=en
Publikováno v:
Human Heredity. 41:103-106
A sample of 251 Whites and 818 Non-Whites, from Curitiba (southern Brazil), was typed with a new method with the aim of estimating the frequency of the CHE1*F allele. The frequency of this allele did not differ between Whites (0.60 ± 0.34%) and Non-
Autor:
L Pereira-Ferrari, Salmo Raskin, Fabio R. Faucz, M. L. Petzl-Erler, Francisco M. Salzano, L. Culpi, Christian Probst, Vanessa Santos Sotomaior, John A. Phillips
Publikováno v:
Scopus-Elsevier
The frequencies of the deltaF508 deletion, the most common cystic fibrosis mutation in Europeans and European-derived populations, and the XV2C and KM19 restriction fragment length polymorphisms that are tightly linked to the CFTR locus vary among po
Autor:
L Culpi, L. Pereira-Ferrari, Salmo Raskin, Javier Giménez, Fabio R. Faucz, Teresa Casals, Ramos, Xavier Estivill
Publikováno v:
Clinical genetics. 72(3)
Cystic fibrosis (CF) is a genetic disease that frequently leads to death in infancy among Europeans and their descendants. The goals of the present study were to analyze the molecular aspects of CFTR gene characterizing mutations, their frequencies,
Autor:
I.R. de Souza, Angelica Beate Winter Boldt, Luiza T. Tsuneto, Maria Luiza Petzl-Erler, Jürgen F. J. Kun, L. Culpi
Publikováno v:
Human immunology. 67(9)
The mannose binding lectin (MBL2) polymorphism is responsible for a common immunodeficiency in the human species. There were suggestions that the MBL2 polymorphism has been under balancing selection, based on the high global frequency of alleles gene
Autor:
L. Culpi, Ilíada Rainha de Souza
Publikováno v:
Genetics and Molecular Biology, Volume: 28, Issue: 3, Pages: 402-406, Published: SEP 2005
Genetics and Molecular Biology, Vol 28, Iss 3, Pp 402-406 (2005)
Genetics and Molecular Biology, Vol 28, Iss 3, Pp 402-406 (2005)
A southern Brazilian isolated community of predominantly sub-Saharan African origin, with a total population of 74 individuals and high degree of inbreeding (F = 0.081) was studied. The small sizes of the breeding (35) and effective (21) populations,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a33a0e496a2353f8de9127587eec3ac5
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000300012&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000300012&lng=en&tlng=en
Publikováno v:
Tissue antigens. 56(5)
HLA-A, -B and -C genes were analysed in the population living in the metropolitan region of Curitiba, the main city of Parana State, southern Brazil, to provide data for studies and applications in HLA-related fields, and to contribute to the underst