Mutación del gen AIRE en el síndrome poliglandular tipo I

Positional cloning of the APECED gene

1997 • 1,385 citations

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

1997 • 1,155 citations

Clinical Variation of Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy (APECED) in a Series of 68 Patients

1990 • 1,041 citations

Polyglandular autoimmune syndrome type I among Iranian Jews.

1992 • 308 citations

A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients

1998 • 244 citations

AIRE Mutations and Human Leukocyte Antigen Genotypes as Determinants of the Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Phenotype

2002 • 195 citations

APECED mutations in the autoimmune regulator (AIRE) gene

2001 • 140 citations

Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: New views on molecular basis of autoimmunity

2005 • 127 citations

The genetic background of autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy and its autoimmune disease components

2002 • 114 citations

Aire: an update

2004 • 102 citations

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome: Time to Review Diagnostic Criteria?

2003 • 86 citations

Delineation of the Molecular Defects in the AIRE Gene in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients from Southern Italy

2002 • 83 citations

Transcription factors in autoimmunity

2003 • 58 citations

Novel Mutations of the Autoimmune Regulator Gene in Two Siblings with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy¹

2000 • 47 citations

Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I

2002 • 45 citations

Aire downregulates multiple molecules that have contradicting immune-enhancing and immune-suppressive functions

2004 • 24 citations

Delineation of the molecular defects in the AIRE gene in APECED patients from Southern Italy

2002 • 4 citations