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88 results

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Novel STAT1 gain-of-function mutation and suppurative infections.
Giardino G, Somma D, Cirillo E, Ruggiero G, Terrazzano G, Rubino V, Ursini MV, Vairo D, Badolato R, Carsetti R, Leonardi A, Puel A, Pignata C. Giardino G, et al. Among authors: ursini mv. Pediatr Allergy Immunol. 2016 Mar;27(2):220-3. doi: 10.1111/pai.12496. Epub 2015 Dec 15. Pediatr Allergy Immunol. 2016. PMID: 26467763 No abstract available.
Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis.
Giardino G, Gallo V, Somma D, Farrow EG, Thiffault I, D'Assante R, Donofrio V, Paciolla M, Ursini MV, Leonardi A, Saunders CJ, Pignata C. Giardino G, et al. Among authors: ursini mv. J Allergy Clin Immunol. 2016 May;137(5):1591-1595.e4. doi: 10.1016/j.jaci.2015.09.050. Epub 2015 Nov 26. J Allergy Clin Immunol. 2016. PMID: 26632527 No abstract available.
Hyper IgM syndrome presenting as chronic suppurative lung disease.
Montella S, Maglione M, Giardino G, Di Giorgio A, Palamaro L, Mirra V, Ursini MV, Salerno M, Pignata C, Caffarelli C, Santamaria F. Montella S, et al. Among authors: ursini mv. Ital J Pediatr. 2012 Sep 19;38:45. doi: 10.1186/1824-7288-38-45. Ital J Pediatr. 2012. PMID: 22992442 Free PMC article.
FOXN1 mutation abrogates prenatal T-cell development in humans.
Vigliano I, Gorrese M, Fusco A, Vitiello L, Amorosi S, Panico L, Ursini MV, Calcagno G, Racioppi L, Del Vecchio L, Pignata C. Vigliano I, et al. Among authors: ursini mv. J Med Genet. 2011 Jun;48(6):413-6. doi: 10.1136/jmg.2011.089532. Epub 2011 Apr 19. J Med Genet. 2011. PMID: 21507891
Brain alteration in a Nude/SCID fetus carrying FOXN1 homozygous mutation.
Amorosi S, Vigliano I, Del Giudice E, Panico L, Maruotti GM, Fusco A, Quarantelli M, Ciccone C, Ursini MV, Martinelli P, Pignata C. Amorosi S, et al. Among authors: ursini mv. J Neurol Sci. 2010 Nov 15;298(1-2):121-3. doi: 10.1016/j.jns.2010.08.066. J Neurol Sci. 2010. PMID: 20864124
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
NESCA: a new NEMO/IKKgamma and TRAF6 interacting protein.
Napolitano G, Mirra S, Monfregola J, Lavorgna A, Leonardi A, Ursini MV. Napolitano G, et al. Among authors: ursini mv. J Cell Physiol. 2009 Aug;220(2):410-7. doi: 10.1002/jcp.21782. J Cell Physiol. 2009. PMID: 19365808
88 results