Fusco F - Search Results

1

Common conditions of use elements. Atomic concepts for consistent and effective information governance.

Sanchez Gonzalez MDC, Kamerling P, Iermito M, Casati S, Riaz U, Veal CD, Maini M, Jeanson F, Benhamed OM, van Enckevort E, Landi A, Mimouni Y, Le Cornec C, Coviello DA, Franchin T, Fusco F, Ramírez García JA, van der Zanden LFM, Bernier A, Wilkinson MD, Mueller H, Gibson SJ, Brookes AJ. Sanchez Gonzalez MDC, et al. Among authors: fusco f. Sci Data. 2024 May 8;11(1):465. doi: 10.1038/s41597-024-03279-z. Sci Data. 2024. PMID: 38719810 Free PMC article.

2

The Incontinentia Pigmenti Genetic Biobank: study design and cohort profile to facilitate research into a rare disease worldwide.

Fusco F, Valente V, Fergola D, Pescatore A, Lioi MB, Ursini MV. Fusco F, et al. Eur J Hum Genet. 2019 Oct;27(10):1509-1518. doi: 10.1038/s41431-019-0451-0. Epub 2019 Jun 23. Eur J Hum Genet. 2019. PMID: 31231133 Free PMC article.

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. Fusco F, et al. 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.

4

Clinical Utility Gene Card for: incontinentia pigmenti.

Fusco F, Pescatore A, Steffann J, Royer G, Bonnefont JP, Ursini MV. Fusco F, et al. 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.

5

Methods to Study the Effect of IKK Inhibition on TNF-Inducing Apoptosis and Necroptosis in Cultured Cells.

Pescatore A, Casale C, Fusco F, Ursini MV. Pescatore A, et al. Among authors: fusco f. Methods Mol Biol. 2021;2366:243-254. doi: 10.1007/978-1-0716-1669-7_14. Methods Mol Biol. 2021. PMID: 34236642

6

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

7

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. Fusco F, et al. Hum Reprod. 2011 Nov;26(11):3186-96. doi: 10.1093/humrep/der266. Epub 2011 Aug 22. Hum Reprod. 2011. PMID: 21859812

8

Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males.

Fusco F, Conte MI, Diociaiuti A, Bigoni S, Branda MF, Ferlini A, El Hachem M, Ursini MV. Fusco F, et al. Pediatrics. 2017 Sep;140(3):e20162950. doi: 10.1542/peds.2016-2950. Epub 2017 Aug 9. Pediatrics. 2017. PMID: 28794079

9

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: fusco f. 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.

10

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. 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.

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