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Severe combined immunodeficiences: new and old scenarios.
Aloj G, Giardino G, Valentino L, Maio F, Gallo V, Esposito T, Naddei R, Cirillo E, Pignata C. Aloj G, et al. Among authors: pignata c. Int Rev Immunol. 2012 Feb;31(1):43-65. doi: 10.3109/08830185.2011.644607. Int Rev Immunol. 2012. PMID: 22251007 Review.
De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype.
Cirillo E, Romano R, Romano A, Giardino G, Durandy A, Nitsch L, Genesio R, Di Gregorio E, Cavalieri S, Abate G, Del Vecchio L, Brusco A, Pignata C. Cirillo E, et al. Among authors: pignata c. Am J Med Genet A. 2012 Oct;158A(10):2571-6. doi: 10.1002/ajmg.a.35556. Epub 2012 Aug 17. Am J Med Genet A. 2012. PMID: 22903806 Free article.
FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program.
Romano R, Palamaro L, Fusco A, Giardino G, Gallo V, Del Vecchio L, Pignata C. Romano R, et al. Among authors: pignata c. Front Immunol. 2013 Jul 12;4:187. doi: 10.3389/fimmu.2013.00187. eCollection 2013. Front Immunol. 2013. PMID: 23874334 Free PMC article.
Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.
Cirillo E, Giardino G, Gallo V, Puliafito P, Azzari C, Bacchetta R, Cardinale F, Cicalese MP, Consolini R, Martino S, Martire B, Molinatto C, Plebani A, Scarano G, Soresina A, Cancrini C, Rossi P, Digilio MC, Pignata C. Cirillo E, et al. Among authors: pignata c. BMC Med Genet. 2014 Jan 2;15:1. doi: 10.1186/1471-2350-15-1. BMC Med Genet. 2014. PMID: 24383682 Free PMC article.
274 results