Publications by authors named "Lucia Perroni"

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Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome.
Laura Passerini, Sara Di Nunzio, Silvia Gregori, Eleonora Gambineri, Massimiliano Cecconi, Lucia Perroni

Eur J Immunol· April 2011

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Deletion of NSD1 exon 14 in Sotos syndrome: first description.
Maria Piccione, Valeria Consiglio, Antonella Di Fiore, Marina Grasso, Massimiliano Cecconi, Lucia Perroni

J Genet· April 2011

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The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment.
Alessandro Cocchella, Michela Malacarne, Francesca Forzano, Carmela Marciano, Mauro Pierluigi, Lucia Perroni

Am J Med Genet B Neuropsychiatr Genet· October 2010

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The H1 haplotype of the tau gene (MAPT) is associated with mild cognitive impairment.
Emilio Di Maria, Sergio Cammarata, Maria Isola Parodi, Roberta Borghi, Luisa Benussi, Lucia Perroni

J Alzheimers Dis· May 2010

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The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype.
Marina Grasso, Massimiliano Cecconi, Stefania Boni, Francesca Forzano, Maurizio Barbaresi, Lucia Perroni

Mol Cell Probes· April 2010

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Wild-type FOXP3 is selectively active in CD4+CD25(hi) regulatory T cells of healthy female carriers of different FOXP3 mutations.
Sara Di Nunzio, Massimiliano Cecconi, Laura Passerini, Alicia N McMurchy, Udo Baron, Lucia Perroni

Blood· November 2009

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Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.
Eleonora Gambineri, Lucia Perroni, Laura Passerini, Lucia Bianchi, Claudio Doglioni

J Allergy Clin Immunol· December 2008

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Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene.
Massimiliano Cecconi, Francesca Forzano, Livia Garavelli, Chiara Pantaleoni, Marina Grasso, Lucia Perroni

Am J Med Genet A· December 2008

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Immune reconstitution and recovery of FOXP3 (forkhead box P3)-expressing T cells after transplantation for IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome.
Hong Zhan, Jo Sinclair, Stuart Adams, Catherine M Cale, Simon Murch, Lucia Perroni

Pediatrics· April 2008

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Defective regulatory and effector T cell functions in patients with FOXP3 mutations.
Rosa Bacchetta, Laura Passerini, Eleonora Gambineri, Minyue Dai, Sarah E Allan, Lucia Perroni

J Clin Invest· June 2006

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Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome.
Fabrizio De Benedetti, Antonella Insalaco, Antonella Diamanti, Elisabetta Cortis, Flaminia Muratori, Lucia Perroni

Clin Gastroenterol Hepatol· May 2006

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Successful use of the new immune-suppressor sirolimus in IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome).
Lutz Bindl, Troy Torgerson, Lucia Perroni, Nelly Youssef, Hans D Ochs

J Pediatr· August 2005

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