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Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations.
Giardino G, Sharapova SO, Ciznar P, Dhalla F, Maragliano L, Radha Rama Devi A, Islamoglu C, Ikinciogullari A, Haskologlu S, Dogu F, Hanna-Wakim R, Dbaibo G, Chou J, Cirillo E, Borzacchiello C, Kreins AY, Worth A, Rota IA, Marques JG, Sayitoglu M, Firtina S, Mahdi M, Geha R, Neven B, Sousa AE, Benfenati F, Hollander GA, Davies EG, Pignata C. Giardino G, et al. Among authors: cirillo e. J Clin Immunol. 2021 May;41(4):756-768. doi: 10.1007/s10875-021-00967-y. Epub 2021 Jan 19. J Clin Immunol. 2021. PMID: 33464451 Free PMC article.
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: cirillo e. Int Rev Immunol. 2012 Feb;31(1):43-65. doi: 10.3109/08830185.2011.644607. Int Rev Immunol. 2012. PMID: 22251007 Review.
Steroid treatment in Ataxia-Telangiectasia induces alterations of functional magnetic resonance imaging during prono-supination task.
Quarantelli M, Giardino G, Prinster A, Aloj G, Carotenuto B, Cirillo E, Marsili A, Salvatore E, Del Giudice E, Pignata C. Quarantelli M, et al. Among authors: cirillo e. Eur J Paediatr Neurol. 2013 Mar;17(2):135-40. doi: 10.1016/j.ejpn.2012.06.002. Epub 2012 Jul 2. Eur J Paediatr Neurol. 2013. PMID: 22763152 Clinical Trial.
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. 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.
131 results