Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Francesca Totaro"'
Autor:
Francesca Totaro, Flora Cimmino, Piero Pignataro, Giovanni Acierno, Marilena De Mariano, Luca Longo, Gian Paolo Tonini, Achille Iolascon, Mario Capasso
Publikováno v:
PLoS ONE, Vol 8, Iss 10, p e76810 (2013)
BACKGROUND: Common variants in DNA may predispose to onset and progression of neuroblastoma (NB). The genotype GG of single nucleotide polymorphism (SNP) rs1800795 (-174 G>C) in interleukin (IL)-6 promoter has been associated with lower survival of h
Externí odkaz:
https://doaj.org/article/d23dff8fd16945f9afeb345922a8de97
Autor:
John M. Maris, Marcella Devoto, Achille Iolascon, Hakon Hakonarson, Lee McDaniel, Maura Diamond, Lucia Pezone, Giuseppe Petrosino, Francesca Totaro, Giovanni Acierno, Flora Cimmino, Sharon Diskin, Mario Capasso
Supplementary Table 1. Functional prioritization of SNPs in linkage disequilibrium (r2=0.6) with significant rs4673067 at SCG2 locus. Supplementary Table 2. SNPs in LD (r2>0.60) with the SNP rs118727. Supplementary Table 3. SNPs in LD (r2>0.60) with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e92a992bd3d387832ca2348271fbbb8
https://doi.org/10.1158/0008-5472.22402941.v1
https://doi.org/10.1158/0008-5472.22402941.v1
Autor:
Aurora Feliu, Milen Minkov, Natascia Campostrini, Clara Camaschella, Fahd Al Manjomi, Laura Silvestri, Francesca Totaro, Luigia De Falco, Alessia Pagani, Carlo Dufour, Achille Iolascon, Dennis G. Van Vuurden, Domenico Girelli, Antonis Kattamis, Carmelo Piscopo, Antonella Nai
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2010, 31 (5), ⟨10.1002/humu.21243⟩
De Falco, L, Totaro, F, Nai, A, Pagani, A, Girelli, D, Silvestri, L, Piscopo, C, Campostrini, N, Dufour, C, Manjomi, F A L, Minkov, M, van Vuurden, D G, Feliu, A, Kattamis, A, Camaschella, C & Iolascon, A 2010, ' Novel TMPRSS6 Mutations Associated with Iron-refractory Iron Deficiency Anemia (IRIDA) ', Human Mutation, vol. 31, no. 5, pp. E1390 . https://doi.org/10.1002/humu.21243
Human Mutation, 31(5). Wiley-Liss Inc.
Human Mutation, Wiley, 2010, 31 (5), ⟨10.1002/humu.21243⟩
De Falco, L, Totaro, F, Nai, A, Pagani, A, Girelli, D, Silvestri, L, Piscopo, C, Campostrini, N, Dufour, C, Manjomi, F A L, Minkov, M, van Vuurden, D G, Feliu, A, Kattamis, A, Camaschella, C & Iolascon, A 2010, ' Novel TMPRSS6 Mutations Associated with Iron-refractory Iron Deficiency Anemia (IRIDA) ', Human Mutation, vol. 31, no. 5, pp. E1390 . https://doi.org/10.1002/humu.21243
Human Mutation, 31(5). Wiley-Liss Inc.
International audience; Mutations leading to abrogation of matriptase-2 proteolytic activity in humans are associated with an iron-refractory iron deficiency anemia (IRIDA) due to elevated hepcidin levels. In this paper we describe 12 IRIDA patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::631d941cc5ea1b1d04dc2d255d214015
https://doi.org/10.1002/humu.21243
https://doi.org/10.1002/humu.21243
Autor:
Mario Capasso, Francesca Totaro, Marcella Devoto, Flora Cimmino, Achille Iolascon, Lee D. McDaniel, Giuseppe Petrosino, John M. Maris, Hakon Hakonarson, Giovanni Acierno, Lucia Pezone, Maura Diamond, Sharon J. Diskin
The genetic etiology of sporadic neuroblastoma is still largely obscure. In a genome-wide association study, we identified single-nucleotide polymorphisms (SNP) associated with neuroblastoma at the CASC15, BARD1, LMO1, DUSP12, HSD17B12, HACE1, and LI
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e829fb7a30f965ea97c490890bd6e9b4
http://hdl.handle.net/11573/645126
http://hdl.handle.net/11573/645126
Autor:
John M. Maris, Mario Capasso, Marilena De Mariano, Sharon J. Diskin, Francesca Totaro, Hakon Hakonarson, Flora Cimmino, Luca Longo, Marcella Devoto, Roberta Russo, Achille Iolascon, Gian Paolo Tonini
Several neuroblastoma (NB) susceptibility loci have been identified within LINC00340, BARD1, LMO1, DUSP12, HSD17B12, DDX4, IL31RA, HACE1 and LIN28B by genome-wide association (GWA) studies including European American individuals. To validate and comp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b73fa405eeca8eed738010566f099d63
http://hdl.handle.net/11573/525658
http://hdl.handle.net/11573/525658
Autor:
Gian Paolo Tonini, Francesca Totaro, Piero Pignataro, Mario Capasso, Luca Longo, Achille Iolascon, Flora Cimmino, Giovanni Acierno, Marilena De Mariano
Publikováno v:
PLoS ONE, Vol 8, Iss 10, p e76810 (2013)
PLoS ONE
PLoS ONE
Background Common variants in DNA may predispose to onset and progression of neuroblastoma (NB). The genotype GG of single nucleotide polymorphism (SNP) rs1800795 (−174 G>C) in interleukin (IL)-6 promoter has been associated with lower survival of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77294af3549d87b4a4468c60d595bcf8
https://doi.org/10.1371/journal.pone.0076810
https://doi.org/10.1371/journal.pone.0076810