Zobrazeno 1 - 10
of 58
pro vyhledávání: '"N Lelli"'
Publikováno v:
Journal of Lipid Research, Vol 37, Iss 3, Pp 662-672 (1996)
An Italian subject with cerebrotendinous xanthomatosis (CTX) was found to have a partial deletion of the gene encoding the enzyme sterol 27-hydroxylase (CYP27 gene). Southern blot analysis revealed that this deletion (approximately 2 kb) spans from i
Externí odkaz:
https://doaj.org/article/5e4b696fd3084d96b7a21928f384d38b
Autor:
R Garuti, N Lelli, M Barozzini, R Tiozzo, M T Dotti, A Federico, A M Ottomano, A Croce, S Bertolini, S Calandra
Publikováno v:
Journal of Lipid Research, Vol 37, Iss 7, Pp 1459-1467 (1996)
Cerebrotendinous xanthomatosis (CTX) is an inherited sterol storage disease associated with the accumulation of cholestanol and cholesterol in various tissues. CTX is caused by a deficiency of sterol-27-hydroxylase, a mitochondrial enzyme that oxidiz
Externí odkaz:
https://doaj.org/article/933fcc557e984d829efcde124186f2a0
Autor:
N Lelli, R Garuti, M Ghisellini, R Tiozzo, M Rolleri, V Aimale, E Ginocchio, A Naselli, S Bertolini, S Calandra
Publikováno v:
Journal of Lipid Research, Vol 36, Iss 6, Pp 1315-1324 (1995)
A novel point mutation of the LDL-receptor gene was found in an Italian patient with homozygous familial hypercholesterolemia. The SSCP analysis of the promoter and of 16 out of the 18 exons of the LDL-receptor gene was negative, suggesting that the
Externí odkaz:
https://doaj.org/article/02995a23a5d4436b9d3270427ce13a6e
Autor:
S Bertolini, D D Patel, D A Coviello, N Lelli, M Ghisellini, R Tiozzo, P Masturzo, N Elicio, B L Knight, S Calandra
Publikováno v:
Journal of Lipid Research, Vol 35, Iss 8, Pp 1422-1430 (1994)
A novel mutation of low density lipoprotein (LDL)-receptor gene was found in an Italian family hypercholesterolemia (FH) patient during a screening of 300 FH patients. The proband as well as her daughter were found to be heterozygotes for the mutatio
Externí odkaz:
https://doaj.org/article/4d955e3b2e7d44ba939b339a602bb512
Autor:
N Lelli, R Garuti, F Zambelli, S Cassanelli, R Tiozzo, A Corsini, S Bertolini, E Riva, MT Ortisi, R Bellù
Publikováno v:
Journal of Lipid Research, Vol 34, Iss 8, Pp 1347-1354 (1993)
An analysis of LDL-receptor gene was performed on an Italian patient with heterozygous familial hypercholesterolemia. Restriction enzyme analysis showed that the proband was heterozygous for a deletion of 4.5 kb spanning the 5' end of exon 13 (45 nuc
Externí odkaz:
https://doaj.org/article/05e239e967bb48ff94d16ba46b976683
Autor:
F. Gugumus, N Lelli
Publikováno v:
Polymer Degradation and Stability. 72:407-421
Ultraviolet (UV) stabilization of metallocene polyolefins is examined from a practical and theoretical point of view. First of all, the possibility of using existing stabilizers and stabilizer systems is investigated. To this avail, the compatibility
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::01708354b2847bf9d43909c93f45d701
https://doi.org/10.1016/s0141-3910(01)00029-5
https://doi.org/10.1016/s0141-3910(01)00029-5
Autor:
A Croce, Roberta Tiozzo, M Barozzini, M.T. Dotti, N Lelli, Stefano Bertolini, A M Ottomano, R. Garuti, Antonio Federico, Sebastiano Calandra
Publikováno v:
Journal of Lipid Research, Vol 37, Iss 7, Pp 1459-1467 (1996)
Europe PubMed Central
Europe PubMed Central
Cerebrotendinous xanthomatosis (CTX) is an in- herited sterol storage disease associated with the accumula- tion of cholestanol and cholesterol in various tissues. CTX is caused by a deficiency of sterol-27-hydroxylase, a mitochon- drial enzyme that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b7230aa120af60421aa569e2ba7a35f
http://www.sciencedirect.com/science/article/pii/S0022227520391306
http://www.sciencedirect.com/science/article/pii/S0022227520391306
Autor:
Alberto Corsini, Stefano Cassanelli, M T Ortisi, Stefano Bertolini, Enrica Riva, N Lelli, F. Zambelli, Roberta Tiozzo, R Bellù, R. Garuti
Publikováno v:
Journal of Lipid Research, Vol 34, Iss 8, Pp 1347-1354 (1993)
An analysis of LDL-receptor gene was performed on an Italian patient with heterozygous familial hypercholesterolemia. Restriction enzyme analysis showed that the proband was heterozygous for a deletion of 4.5 kb spanning the 5' end of exon 13 (45 nuc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d0bbbc3a44f37901d8a3c6113a0c4a8
https://doi.org/10.1016/s0022-2275(20)36964-9
https://doi.org/10.1016/s0022-2275(20)36964-9
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Akademický článek
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