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Titolo Data di pubblicazione Autore(i) File
Verminoside-and verbascolide-induced genotoxicity on human lymphocytes:Involvement of PARP-1 and p53 proteins 1-gen-2008 Santoro, A; Bianco, G; Picerno, P; Aquino, R. P.; Autore, G; Marzocco, S; Gazzero, P; Lioi, Maria Brigida; Bifulco, M.
"Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti", 1-gen-2009 Fusco, F; Paciolla, M; Pescatore, A; Lioi, Maria Brigida; Ayuso, C; Faravelli, F; Gentile, M; Zollino, M; D'Urso, M; Miano, Mg; Ursini, Mv
Is NFKappa-B inhibitor alpha (IkBa) involved into oocyte-to-embryo transition? 1-gen-2009 M., Paciolla; Boni, Raffaele; F., Fusco; M. V., Ursini; Lioi, Maria Brigida; M. G., Miano
Detection of a new unbalanced rearrangement leading to a partial monosomy Xq and a partial 18q trisomy associated with diminished ovarian reserve (DOR). 1-gen-2010 M., Paciolla; F., Fusco; Lioi, Maria Brigida; X., Li; R., Genesio; A., Conti; L., Poeta; D., Drongitis; Chen M. V., Ursini; M. G., Miano
Recurrent and non-recurrent genomic rearrangements in IKBKG locus, causino IP, are generated by different mechanisms and may involve the contigous G6PD gene. 1-gen-2010 F., Fusco; M., Paciolla; F., Napolitano; A., Pescatore; E., Esposito; Lioi, Maria Brigida; M. G., Miano; M. V., Ursini
The inter-neuropathies linked to ARX mutations: the role of Aristaless during ES differentiation into GABAergic neurons. 1-gen-2011 L., Poeta; D., Drongitis; F., Fusco; M., Paciolla; S., Filosa; P., Collombat; Lioi, Maria Brigida; M. V., Ursini; M. G., Miano
Aristaless brain diseases: a class of pathologies associated with an altered GABAergic homeostasis? 1-gen-2011 L., Poeta; D., Drongitis; F., Fusco; M., Paciolla; S., Filosa; P., Collombat; Lioi, Maria Brigida; M. V., Ursini; M. G., Miano
A rare deletion of IKBKG promoter B in incontinentia pigmenti patient reveals the role of IKBKG promoter A during embryonic development. 1-gen-2011 F., Fusco; A., Pescatore; M. I., Conte; M., Paciolla; Lioi, Maria Brigida; M. G., Miano; M. V., Urini
Genetic and Molecular Analysis of a new Unbalanced X/18 Rearrangement link the Diminished Ovarian Reserve disease to the distal Xq POF1 region 1-gen-2011 Fusco, F; Paciolla, M; Lioi, Maria Brigida; Li, X; Genesio, R; Conti, A; Jones, J; Poeta, L; Chen, E; Ursini, Mv; Miano, Mg
Gene conversation at the Xq28 and novel non-recurrent deletions involving IKBKG/NEMO and G6PD denote genome instability causing incontinentia pigmenti. 1-gen-2011 F., Fusco; M., Paciolla; M. I., Conte; A., Pescatore; Lioi, Maria Brigida; M. G., Miano; M. V., Ursini
Biochemical and molecular characterization of von Willebrand disease type 2N in a pregnant patient who gave birth under analgesia with remifentanil. 1-gen-2011 D. Dell'Edera, .; P., Guanciali Franchi; Lioi, Maria Brigida; A. A. E. p. i. f. a. n. i. a., A. Tinelli; V., Monti Condesnitt; A. B. r. i. z. z. i., A. Malvasi
Nuclear factor-kappa-B-inhibitor alpha (NFKBIA) is a developmental marker of NF-kB/p65 activation during in vitro oocyte maturation and early embryogenesis 1-gen-2011 Paciolla, M; Boni, Raffaele; Fusco, F; Pescatore, A; Poeta, L; Ursini, Mv; Lioi, Maria Brigida; Miano, Mg
The histone demethylase KDM5C gene is a direct target of the ARX homebox transcrition factor. 1-gen-2012 L., Poeta; F., Fusco; D., Drongitis; C., Shoubridge; G., Manganelli; A., Padula; S., Filona; M., Courtney; P., Collombat; Lioi, Maria Brigida; J., Gecz; M. V., Ursini; M. G., Miano
Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms. 1-gen-2012 Fusco, F; Paciolla, M; Napolitano, F; Pescatore, A; D'Addario, I; Bal, E; Lioi, Maria Brigida; Smahi, A; Miano, Mg; Ursini, M. V.
Unravelling the molecular mechanisms of pathogenesis of Incontinentia Pigmenti Mendelian Disorder. 1-gen-2013 F., Fusco; M. I., Conte; A., Pescatore; E., Esposito; Paciolla, Mariateresa; M. G., Miano; Lioi, Maria Brigida; J. P., Bonnefont; S., Hadj Rabia; C., Bodemer; G., Royer; A., Smahi; J., Steffan; M. V., Ursini
Whole exome sequencing approach to reveal the genetic aspects of extreme phenotypic variability of Incontinentia Pigmenti 1-gen-2013 M. I., Conte; Paciolla, Mariateresa; A., Pescatore; E., Esposito; I., Agliata; Lioi, Maria Brigida; M. G., Miano; M. V., Ursini; F., Fusco
Identification of patients with defects in the globin genes:a case report 1-gen-2013 D., Dell'Edera; A. A., Epifania; G. N., Milazzo; M., Leo; C., Santacesaria; A., Allegretti; M. G., Lupo; E., Mazzone; P., Panetta; G., Iammarino; Barbieri, Rocchina; Lioi, Maria Brigida
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. 1-gen-2013 Poeta, L; Fusco, F; Drongitis, D; Shoubridge, C; Manganelli, G; Filosa, S; Paciolla, M; Courtney, M; Collombat, P; Lioi, Maria Brigida; Gecz, J; Ursini, Mv; Miano, M. G.
Ontogenetic profile of innate immune related genes and their tissue-specific expression in brown trout, Salmo trutta (Linnaeus, 1758) 1-gen-2013 Cecchini, Stefano; M., Paciolla; E., Biffali; M., Borra; M. V., Ursini; Lioi, Maria Brigida
Incidence of β-thalassemia carrier on 1495 couples in preconceptional period. 1-gen-2013 Dell'Edera, D; Epifania, Aa; Malvasi, A; Pacella, E; Tinelli, A; Capalbo, A; Lioi, Maria Brigida; Di Renzo, G.
Mostrati risultati da 41 a 60 di 75
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