Ursini MV - Search Results

1

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: ursini mv. 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.

2

Incontinentia Pigmenti.

Cammarata-Scalisi F, Fusco F, Ursini MV. Cammarata-Scalisi F, et al. Among authors: ursini mv. Actas Dermosifiliogr (Engl Ed). 2019 May;110(4):273-278. doi: 10.1016/j.ad.2018.10.004. Epub 2019 Jan 17. Actas Dermosifiliogr (Engl Ed). 2019. PMID: 30660327 Review. English, Spanish.

3

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. Fusco F, et al. Among authors: ursini mv. Int Rev Immunol. 2015;34(6):445-59. doi: 10.3109/08830185.2015.1055331. Epub 2015 Aug 13. Int Rev Immunol. 2015. PMID: 26269396 Review.

4

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: ursini mv. Hum Mutat. 2014 Feb;35(2):165-77. doi: 10.1002/humu.22483. Epub 2013 Dec 12. Hum Mutat. 2014. PMID: 24339369

5

Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease.

Pizzamiglio MR, Piccardi L, Bianchini F, Canzano L, Palermo L, Fusco F, D'Antuono G, Gelmini C, Garavelli L, Ursini MV. Pizzamiglio MR, et al. Among authors: ursini mv. PLoS One. 2014 Jan 29;9(1):e87771. doi: 10.1371/journal.pone.0087771. eCollection 2014. PLoS One. 2014. PMID: 24489960 Free PMC article.

6

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: ursini mv. 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

7

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: ursini mv. Hum Mutat. 2009 Sep;30(9):1284-91. doi: 10.1002/humu.21069. Hum Mutat. 2009. PMID: 19603533

8

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: ursini mv. 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

9

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: ursini mv. Hum Mutat. 2008 May;29(5):595-604. doi: 10.1002/humu.20739. Hum Mutat. 2008. PMID: 18350553

10

Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome: Recommendations for clinical management.

Pizzamiglio MR, Piccardi L, Bianchini F, Canzano L, Palermo L, Fusco F, D'Antuono G, Gelmini C, Garavelli L, Ursini MV. Pizzamiglio MR, et al. Among authors: ursini mv. Appl Neuropsychol Child. 2017 Oct-Dec;6(4):327-334. doi: 10.1080/21622965.2016.1188388. Epub 2016 Jun 7. Appl Neuropsychol Child. 2017. PMID: 27267212

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