Zobrazeno 1 - 10
of 42
pro vyhledávání: '"P. F. Pignatti"'
Autor:
Lilian Pereira, Salmo Raskin, Aline A. Freund, Patrícia D. Ribas, Raquel M.V. Castro, Pier F. Pignatti, Lodércio Culpi
Publikováno v:
Genetics and Molecular Biology, Vol 22, Iss 3, Pp 291-294 (1999)
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
Externí odkaz:
https://doaj.org/article/2f22adebc6654ea5b82d7384aafd4071
Autor:
P. Prandini, E. Trabetti, A. Pasquali, P. Muglia, L. Da Ros, M. G. Romanelli, G. Malerba, B. Dalla Bernardina, L. Zoccante, F. Boscaini, G. Masi, F. Nardocci, R. Scifo, A. Zuddas, A. Pascotto, A. Tiberti, M. Molteni, P. Curatolo, L. Margari, M. Elia, P. A. Battistella, P. F. Pignatti, PARMEGGIANI, ANTONIA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______4094::fe4ee93362a15c5ef8a719177102cddb
http://hdl.handle.net/11585/119014
http://hdl.handle.net/11585/119014
Autor:
L. Osborne, G. Santis, M. Schwarz, K. Klinger, T. Dörk, I. McIntosh, M. Schwartz, V. Nunes, M. Macek, J. Reiss, W. E. Highsmith, R. McMahon, G. Novelli, N. Malik, J. Bürger, M. Anvret, A. Wallace, C. Williams, C. Mathew, R. Rozen, C. Graham, P. Gasparini, J. Bal, J. J. Cassiman, A. Balassopoulou, L. Davidow, S. Raskin, L. Kalaydjieva, B. Kerem, S. Richards, B. Simon-Bouy, M. Super, U. Wulbrand, M. Keston, X. Estivill, V. Vavrova, K. J. Friedman, D. Barton, B. Dallapiccola, M. Stuhrmann, F. Beards, A. J. M. Hill, P. F. Pignatti, H. Cuppens, D. Angelicheva, B. Tümmler, D. J. H. Brock, T. Casals, J. Schmidtke, A. C. Magee, A. Bonizzato, C. De Boeck, A. Kuffardjieva, M. Hodson, R. A. Knight
Publikováno v:
Human Genetics. 89:653-658
The N1303K mutation was identified in the second nucleotide binding fold of the cystic fibrosis (CF) gene last year. We have gathered data from laboratories throughout Europe and the United States of America in order to estimate its frequency and to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0636d0ccb77e88d8d73c27b2dd64b1c
https://doi.org/10.1007/bf00221957
https://doi.org/10.1007/bf00221957
Autor:
Giuseppe Cetta, A Sangalli, M Gomez Lira, P F Pignatti, F Antoniazzi, Maurizia Valli, Ruggero Tenni, M. Mottes, Antonio Rossi
Publikováno v:
Journal of Biological Chemistry. 266:1872-1878
Cultured fibroblasts from a patient affected with a moderate form of osteogenesis imperfecta were defective for the synthesis of type I collagen molecules; about half of the alpha 1(I) chains contained a cysteine residue in the triple helical domain
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::16a7cee0e26a1380beafa6979c09c676
https://doi.org/10.1016/s0021-9258(18)52374-7
https://doi.org/10.1016/s0021-9258(18)52374-7
Autor:
O, Olivieri, N, Martinelli, A, Bassi, E, Trabetti, D, Girelli, F, Pizzolo, S, Friso, P F, Pignatti, R, Corrocher
Triglyceride-rich lipoproteins contain both apolipoproteins E (ApoE) and C-III (ApoC-III), which show opposite functional properties. The relationships between the ApoE (epsilon2/epsilon3/epsilon4) gene polymorphism and ApoC-III/ApoE ratio has never
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4314133aa5b60e657c3bb6b685415795
http://hdl.handle.net/11562/318060
http://hdl.handle.net/11562/318060
Autor:
C, Migliaccio, C, Patuzzo, G, Malerba, E, Trabetti, R, Galavotti, L, Pescollderung, A L, Boner, P F, Pignatti
The literature contains conflicting reports on the association of common variants of the interleukin (IL)-4 receptor alpha (IL4RA) gene with atopic asthma. The purpose of the present study was to investigate the linkage and association of several gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5359700eb7c9d89e5cefd86a1d673b87
http://hdl.handle.net/11562/301621
http://hdl.handle.net/11562/301621
Autor:
S, Friso, D, Girelli, E, Trabetti, C, Stranieri, O, Olivieri, E, Tinazzi, N, Martinelli, G, Faccini, P F, Pignatti, R, Corrocher
Publikováno v:
Clinical and experimental medicine. 2(1)
5, 10-Methylenetetrahydrofolate reductase (MTHFR) is a crucial enzyme in homocysteine/methionine metabolism. The most-studied C677T polymorphism in the MTHFR gene results in a thermolabile variant with reduced activity, and is associated with increas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::18c7cdab8171cfd71b7a6c6c31459b5c
https://pubmed.ncbi.nlm.nih.gov/12049191
https://pubmed.ncbi.nlm.nih.gov/12049191
Publikováno v:
Croatian medical journal. 42(4)
Predictive genetic testing offers the possibility to statistically determine the risk of inheriting a complex phenotype by establishing an individual s genotype for metabolic polymorphisms. Here we discuss the conditions under which a predictive test
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b63a8e9ee16d7482978df2b88b5ce5dc
https://pubmed.ncbi.nlm.nih.gov/11471199
https://pubmed.ncbi.nlm.nih.gov/11471199