Zobrazeno 1 - 10 of 54 pro vyhledávání: '"M. Rolleri"'
1
Akademický článek
Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento).
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
Zobrazit plný text záznamu
4
Two Italian kindreds carrying the Arg136--Ser mutation of the Apo E gene: development of premature and severe atherosclerosis in the presence of epsilon 2 as second allele
Autor: Livia Pisciotta, Giovanni Emmanuele, V. Guido, M. Rolleri, Alberto Notarbartolo, S. Travali, Maurizio Averna, Carlo M. Barbagallo, Davide Noto, Stefano Bertolini, B. Fiore, Angelo B. Cefalù, Nicoletta Vivona
Publikováno v: Nutrition, metabolism, and cardiovascular diseases : NMCD. 13(2)
Background and Aims: Type III hyperlipoproteinemia, or dysbetalipoproteinemia, is commonly associated with apolipoprotein E2 homozygosity (Cy Background and Aims: 12, Cy Background and Aims: 58). Apo E2-Christchurch (Arg136→Ser), a rare mutation of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b02b3ac459c96b57c8f1069464dff12
https://pubmed.ncbi.nlm.nih.gov/12929622
Zobrazit plný text záznamu
5
Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients
Autor: S. Travali, E. Sesti, Alberto Notarbartolo, Maurizio Averna, M. Rolleri, Stefano Bertolini, F. Polizzi, Davide Noto, Alberto Corsini, Rosalia Caldarella, G. Marino, Carlo M. Barbagallo, G. Scalisi, Angelo B. Cefalù
Publikováno v: Scopus-Elsevier
Familial defective apolipoprotein (apo) B-100 together with familial hypercholesterolemia are the two common genetic conditions that cause hypercholesterolemia. Familial defective apolipoprotein B-100 is due to mutations around codon 3500 of the apo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5ecde53cb30de81b121d668cca67c30
https://pubmed.ncbi.nlm.nih.gov/11833852
Zobrazit plný text záznamu
7
Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia
Autor: R. Garuti, M. Rolleri, Sebastiano Calandra, Maria Luisa Simone, Stefano Bertolini, Stefano Cassanelli, Paola Masturzo, M. Ghisellini
Publikováno v: Scopus-Elsevier
Abstract —The aim of this study was the characterization of mutations of the LDL receptor gene in 39 Italian patients with homozygous familial hypercholesterolemia, who were examined during the period 1994 to 1996. The age of the patients ranged fr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91c56b01243cb94b3f6f3295cee3ff54
https://hdl.handle.net/11380/611675
Zobrazit plný text záznamu
8
A ‘de novo’ point mutation of the low-density lipoprotein receptor gene in an Italian subject with primary hypercholesterolemia
Autor: Elicio N, Sebastiano Calandra, Stefano Bertolini, M. Rolleri, A. Naselli, L. Casarino, F. De Stefano, Stefano Cassanelli
Publikováno v: Scopus-Elsevier
Severe hypercholesterolemia was found in an 11-year-old boy with no family history of familial hypercholesterolemia. The reduced LDL-receptor activity in cultured skin fibroblasts (40% 125I-LDL degradation as compared with a control cell line) indica
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5368b7986dab47e75c0306d7573ca2b4
http://hdl.handle.net/11567/392770
Zobrazit plný text záznamu
9
Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento)
Autor: E Ginocchio, M. Ghisellini, Roberta Tiozzo, N Lelli, Stefano Bertolini, V Aimale, A. Naselli, M Rolleri, R. Garuti, Sebastiano Calandra
Publikováno v: Journal of Lipid Research, Vol 36, Iss 6, Pp 1315-1324 (1995)
Europe PubMed Central
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b3864d9206ed890ea93a5151aa165c1
https://pubmed.ncbi.nlm.nih.gov/7545204
Zobrazit plný text záznamu
10
Four novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia
Autor: N Elicio, M. Ghisellini, C. Carabbio, W. Lelli, G. Orecchini, Claudia Stefanutti, M. Rolleri, Paola Masturzo, M. L. Simone, Domenico A. Coviello, Stefano Bertolini, R. Garuti, Sebastiano Calandra, Roberta Tiozzo
Publikováno v: Scopus-Elsevier
Abstract In this study, we report four new partial deletions of the LDL-receptor (LDL-R) gene discovered during a survey of 326 Italian patients with familial hypercholesterolemia (FH). All deletions were found in FH heterozygotes whose LDL-R activit
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::230ca42cc6a44134fa2080b660ff68f6
https://pubmed.ncbi.nlm.nih.gov/7749819
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje