Publications
- Scheuerle AE, Ursini MV. Incontinentia Pigmenti. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. 1999 Jun 8 [updated 2017 Dec 21]. PMID: 20301645
- Fusco F, Conte MI, Diociaiuti A, Bigoni S, Branda MF, Ferlini A, El Hachem M, Ursini MV. Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males. Pediatrics. 2017 Sep;140(3). pii: e20162950. doi: 10.1542/peds.2016-2950. Epub 2017 Aug 9. PMID: 28794079.Comunicato Stampa CNR https://www.cnr.it/it/comunicato-stampa/7622/incontinentia-pigmenti-l-ereditarieta-e-anche-paterna
- Müller K, Courtois G, Ursini MV, Schwaninger M. Stroke. New Insight Into the Pathogenesis of Cerebral Small-Vessel Diseases. 2017 Feb;48(2):520-527. doi: 10.1161/STROKEAHA.116.012888. Epub 2017 Jan 12. No abstract available. PMID: 28082670
- Pescatore A, Esposito E, Draber P, Walczak H, Ursini MV. NEMO regulates a cell death switch in TNF signaling by inhibiting recruitment of RIPK3 to the cell death-inducing complex II. Cell Death Dis. 2016 Aug 25;7(8):e2346. doi: 10.1038/cddis.2016.245. PMID: 27560715
- Pizzamiglio MR, Piccardi L, Bianchini F, Canzano L, Palermo L, Fusco F, D’Antuono G, Gelmini C, Garavelli L, Ursini MV. Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome: Recommendations for clinical management. Appl Neuropsychol Child. 2017 Oct-Dec;6(4):327-334. doi: 10.1080/21622965.2016.1188388. Epub 2016 Jun 7. PMID: 27267212
- Courtois, G., Pescatore, A., Gautheron, J., Fusco, F., Ursini, M.V., Senegas, A. “NF-kB-Related Genetic Diseases” e-book http://www.springer.com/in/book/9783319258485;
- Fusco F, Pescatore A, Conte MI, Mirabelli P, Paciolla M, Esposito E, Lioi MB, Ursini MV. “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.” Int Rev Immunol. 2015.
- Fusco F, Paciolla M, Conte MI, Pescatore A, Esposito E, Mirabelli P, Lioi MB, Ursini MV. Incontinentia pigmenti: report on data from 2000 to 2013. Orphanet J Rare Dis. 2014;9:93.
- Pizzamiglio MR, Piccardi L, Bianchini F, Canzano L, Palermo L, Fusco F, D’Antuono G, Gelmini C, Garavelli L, Ursini MV. Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease. PLoS One. 2014; 9:e87771.
- 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. Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease. Hum Mutat. 2014, 35:165-177.
- Fusco F, Pescatore A, Steffann J, Royer G, Bonnefont JP, Ursini MV. Clinical Utility Gene Card for: incontinentia pigmenti. Eur J Hum Genet. 2013; 21.
- Ursini MV, Conte MI, Pescatore A, Miano MG and Fusco F. Molecular Genetics of Incontinentia Pigmenti. In: eLS. John Wiley & Sons, Ltd: Chichester. 2012.
- Fusco F, Paciolla M, Napolitano F, Pescatore A, D’Addario I, Bal E, Lioi MB, Smahi A, Miano MG, Ursini MV. Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms. Hum Mol Genet. 2012; 21:1260-1271.
- Gautheron J, Pescatore A, Fusco F, Esposito E, Yamaoka S, Agou F, Ursini MV, Courtois G. Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology. Hum Mol Genet. 2010; 19:3138-3149.
- Scheuerle A, Ursini MV: Incontinentia pigmenti. In GeneReviews® [Internet]. Edited by Pagon RA et al., 2010.
- Fusco F, D’Urso M, Miano MG, Ursini MV. The LCR at the IKBKG locus is prone to recombine. Am J Hum Genet. 2010; 86:650-652.
- Fusco F., Paciolla M., Pescatore A., Lioi MB., Ayuso C., Faravelli F., Gentile M., Zollino M., D’Urso M., Miano MG., and Ursini MV. Microdeletion/duplication at the Xq28 IP Locus causes de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in Families with Incontinentia Pigmenti. Human Mutation, 2009; 30:1284-1291.
- Fusco F., Pescatore A., Bal E., Ghoul A., Paciolla M., Lioi MB., D’Urso M., Hadj Rabia S., Bodemer C., Bonnefont JP., Munnich A., Miano MG., Smahi A. and Ursini MV. Alterations of the ikbkg locus and diseases: an update and a report of 13 novel mutations. Human Mutation, 2008; 29:595-604.
- Sebban-Benin H., Pescatore A., Fusco F., Pascuale V., Gautheron J., Yamaoka S., Moncla A., Ursini MV., Courtois G. Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti. Hum Mol Genet, 2007; 16: 2805-2815.
- Fusco F., Fimiani G., Tadini G., D’Urso M., Ursini M.V. Clinical diagnosis of incontinentia pigmenti in a cohort of male patients. J Am Acad Dermatol, 2007; 56: 264-267.
- F. Fusco, V. Mercadante, M.G. Miano and M.V. Ursini. Multiple Regulatory Regions and Tissue Specific Transcription Initiation Mediate the Expression of NEMO/IKKg Gene. Gene, 2006; 383: 99-107.
- M.A. Iembo, D. Concolino, M.V. Ursini, F. Fusco, P. Novellino, P. Strisciuglio. Erythematous eruption with linear vesciculation and eosinophilia at birth. Ital J Pediatrics, 2005; 31: 141-143.
- F. Fusco, T. Bardaro, G. Fimiani, V. Mercadante, M. G. Miano, G. Falco, A. Israel, G. Courtois, M. D’Urso and M. V. Ursini. Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kB activation. Hum Mol Genet, 2004; 13: 1763–1773.
- Bardaro T, Falco G, Sparago A,Mercadante V, GeanMolins E, Tarantino E, Ursini MV, D’Urso M. Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma gene deletion. Human Mutation 2003; 21:8–11.