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Items: 1 to 20 of 35

1.

EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation.

Fusco F, Pescatore A, Conte MI, Mirabelli P, Paciolla M, Esposito E, Lioi MB, Ursini MV.

Int Rev Immunol. 2015;34(6):445-59. doi: 10.3109/08830185.2015.1055331. Epub 2015 Aug 13. Review.

PMID:
26269396
2.

Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.

Paciolla M, Pescatore A, Conte MI, Esposito E, Incoronato M, Lioi MB, Fusco F, Ursini MV.

Genes Immun. 2015 Jun;16(4):239-46. doi: 10.1038/gene.2015.3. Epub 2015 Mar 12. Review.

3.

Incontinentia pigmenti: report on data from 2000 to 2013.

Fusco F, Paciolla M, Conte MI, Pescatore A, Esposito E, Mirabelli P, Lioi MB, Ursini MV.

Orphanet J Rare Dis. 2014 Jun 24;9:93. doi: 10.1186/1750-1172-9-93.

4.

Identification of patients with defects in the globin genes.

Dell'edera D, Epifania AA, Milazzo GN, Leo M, Santacesaria C, Allegretti A, Mazzone E, Panetta P, Iammarino G, Lupo MG, Barbieri R, Lioi MB.

J Prenat Med. 2013 Oct;7(4):47-50.

5.

Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.

Conte MI, Pescatore A, Paciolla M, Esposito E, Miano MG, Lioi MB, McAleer MA, Giardino G, Pignata C, Irvine AD, Scheuerle AE, Royer G, Hadj-Rabia S, Bodemer C, Bonnefont JP, Munnich A, Smahi A, Steffann J, Fusco F, Ursini MV.

Hum Mutat. 2014 Feb;35(2):165-77. doi: 10.1002/humu.22483. Epub 2013 Dec 12.

PMID:
24339369
6.

Ontogenetic profile of innate immune related genes and their tissue-specific expression in brown trout, Salmo trutta (Linnaeus, 1758).

Cecchini S, Paciolla M, Biffali E, Borra M, Ursini MV, Lioi MB.

Fish Shellfish Immunol. 2013 Sep;35(3):988-92. doi: 10.1016/j.fsi.2013.05.026. Epub 2013 Jun 10.

PMID:
23765117
7.

Meiosis progression and donor age affect expression profile of DNA repair genes in bovine oocytes.

Bilotto S, Boni R, Russo GL, Lioi MB.

Zygote. 2015 Feb;23(1):11-8. doi: 10.1017/S0967199413000154. Epub 2013 May 14.

PMID:
23673140
8.

A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.

Poeta L, Fusco F, Drongitis D, Shoubridge C, Manganelli G, Filosa S, Paciolla M, Courtney M, Collombat P, Lioi MB, Gecz J, Ursini MV, Miano MG.

Am J Hum Genet. 2013 Jan 10;92(1):114-25. doi: 10.1016/j.ajhg.2012.11.008. Epub 2012 Dec 13.

9.

Incidence of β-thalassemia carrier on 1495 couples in preconceptional period.

Dell'Edera D, Epifania AA, Malvasi A, Pacella E, Tinelli A, Capalbo A, Lioi MB, Di Renzo G.

J Matern Fetal Neonatal Med. 2013 Mar;26(5):445-8. doi: 10.3109/14767058.2012.735998. Epub 2012 Oct 30.

PMID:
23039078
10.

Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms.

Fusco F, Paciolla M, Napolitano F, Pescatore A, D'Addario I, Bal E, Lioi MB, Smahi A, Miano MG, Ursini MV.

Hum Mol Genet. 2012 Mar 15;21(6):1260-71. doi: 10.1093/hmg/ddr556. Epub 2011 Nov 25.

PMID:
22121116
11.

Biochemical and molecular characterization of von Willebrand disease type 2N in a pregnant patient who gave birth under analgesia with remifentanil.

Dell'Edera D, Guanciali Franchi P, Lioi MB, Epifania AA, Tinelli A, Monti Condesnitt V, Brizzi A, Malvasi A.

J Biol Regul Homeost Agents. 2011 Jul-Sep;25(3):469-75.

PMID:
22023773
12.

Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region.

Fusco F, Paciolla M, Chen E, Li X, Genesio R, Conti A, Jones J, Poeta L, Lioi MB, Ursini MV, Miano MG.

Hum Reprod. 2011 Nov;26(11):3186-96. doi: 10.1093/humrep/der266. Epub 2011 Aug 22.

PMID:
21859812
13.

Nuclear factor-kappa-B-inhibitor alpha (NFKBIA) is a developmental marker of NF-κB/p65 activation during in vitro oocyte maturation and early embryogenesis.

Paciolla M, Boni R, Fusco F, Pescatore A, Poeta L, Ursini MV, Lioi MB, Miano MG.

Hum Reprod. 2011 May;26(5):1191-201. doi: 10.1093/humrep/der040. Epub 2011 Feb 26.

PMID:
21357606
14.

Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti.

Fusco F, Paciolla M, Pescatore A, Lioi MB, Ayuso C, Faravelli F, Gentile M, Zollino M, D'Urso M, Miano MG, Ursini MV.

Hum Mutat. 2009 Sep;30(9):1284-91. doi: 10.1002/humu.21069.

PMID:
19603533
15.

Verminoside- and verbascoside-induced genotoxicity on human lymphocytes: involvement of PARP-1 and p53 proteins.

Santoro A, Bianco G, Picerno P, Aquino RP, Autore G, Marzocco S, Gazzerro P, Lioi MB, Bifulco M.

Toxicol Lett. 2008 May 5;178(2):71-6. doi: 10.1016/j.toxlet.2008.02.006. Epub 2008 Feb 23.

PMID:
18395372
16.

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.

Fusco F, Pescatore A, Bal E, Ghoul A, Paciolla M, Lioi MB, D'Urso M, Rabia SH, Bodemer C, Bonnefont JP, Munnich A, Miano MG, Smahi A, Ursini MV.

Hum Mutat. 2008 May;29(5):595-604. doi: 10.1002/humu.20739.

PMID:
18350553
17.

L-Carnitine protects mammalian cells from chromosome aberrations but not from inhibition of cell proliferation induced by hydrogen peroxide.

Santoro A, Lioi MB, Monfregola J, Salzano S, Barbieri R, Ursini MV.

Mutat Res. 2005 Nov 10;587(1-2):16-25. Epub 2005 Sep 15.

PMID:
16168704
18.

Evaluation of genotoxic effects in human peripheral blood leukocytes following an acute in vitro exposure to 900 MHz radiofrequency fields.

Zeni O, Romanò M, Perrotta A, Lioi MB, Barbieri R, d'Ambrosio G, Massa R, Scarfì MR.

Bioelectromagnetics. 2005 May;26(4):258-65.

PMID:
15832336
19.

Chromosome aberrations in cattle with chronic enzootic haematuria.

Lioi MB, Barbieri R, Borzacchiello G, Dezzi S, Roperto S, Santoro A, Russo V, Roperto F.

J Comp Pathol. 2004 Aug-Oct;131(2-3):233-6.

PMID:
15276863
20.

Ochratoxin A and zearalenone: a comparative study on genotoxic effects and cell death induced in bovine lymphocytes.

Lioi MB, Santoro A, Barbieri R, Salzano S, Ursini MV.

Mutat Res. 2004 Jan 10;557(1):19-27.

PMID:
14706515

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