Pescatore A - Search Results

1

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. Fusco F, et al. Among authors: pescatore a. Hum Mol Genet. 2012 Mar 15;21(6):1260-71. doi: 10.1093/hmg/ddr556. Epub 2011 Nov 25. Hum Mol Genet. 2012. PMID: 22121116

2

Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti.

Sebban-Benin H, Pescatore A, Fusco F, Pascuale V, Gautheron J, Yamaoka S, Moncla A, Ursini MV, Courtois G. Sebban-Benin H, et al. Among authors: pescatore a. Hum Mol Genet. 2007 Dec 1;16(23):2805-15. doi: 10.1093/hmg/ddm237. Epub 2007 Aug 29. Hum Mol Genet. 2007. PMID: 17728323

3

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. Fusco F, et al. Among authors: pescatore a. Hum Mutat. 2008 May;29(5):595-604. doi: 10.1002/humu.20739. Hum Mutat. 2008. PMID: 18350553

4

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. Fusco F, et al. Among authors: pescatore a. Hum Mutat. 2009 Sep;30(9):1284-91. doi: 10.1002/humu.21069. Hum Mutat. 2009. PMID: 19603533

5

Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology.

Gautheron J, Pescatore A, Fusco F, Esposito E, Yamaoka S, Agou F, Ursini MV, Courtois G. Gautheron J, et al. Among authors: pescatore a. Hum Mol Genet. 2010 Aug 15;19(16):3138-49. doi: 10.1093/hmg/ddq222. Epub 2010 Jun 7. Hum Mol Genet. 2010. PMID: 20529958

6

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. Paciolla M, et al. Among authors: pescatore a. Hum Reprod. 2011 May;26(5):1191-201. doi: 10.1093/humrep/der040. Epub 2011 Feb 26. Hum Reprod. 2011. PMID: 21357606

7

Clinical Utility Gene Card for: incontinentia pigmenti.

Fusco F, Pescatore A, Steffann J, Royer G, Bonnefont JP, Ursini MV. Fusco F, et al. Among authors: pescatore a. Eur J Hum Genet. 2013 Jul;21(7). doi: 10.1038/ejhg.2012.227. Epub 2012 Oct 10. Eur J Hum Genet. 2013. PMID: 23047738 Free PMC article. No abstract available.

8

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. Conte MI, et al. Among authors: pescatore a. Hum Mutat. 2014 Feb;35(2):165-77. doi: 10.1002/humu.22483. Epub 2013 Dec 12. Hum Mutat. 2014. PMID: 24339369

9

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. Fusco F, et al. Among authors: pescatore a. Orphanet J Rare Dis. 2014 Jun 24;9:93. doi: 10.1186/1750-1172-9-93. Orphanet J Rare Dis. 2014. PMID: 24961275 Free PMC article.

10

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. Paciolla M, et al. Among authors: pescatore a. Genes Immun. 2015 Jun;16(4):239-46. doi: 10.1038/gene.2015.3. Epub 2015 Mar 12. Genes Immun. 2015. PMID: 25764117 Free PMC article. Review.

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