Ospedale Microcitemico

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Laura Crisponi, Manila Deiana, Angela Loi et al. · Nature Genetics · 2001 · 974 citations

Transcriptional Regulation, Developmental Biology, Genetic Disorder +7

Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant

Torkel Vang, Mauro Congia, Maria Doloretta Macis et al. · Nature Genetics · 2005 · 715 citations

Autoimmune Disease, Gain-of-function Variant, Autoantibody Production +6

Genome-wide association study shows <i>BCL11A</i> associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia

Manuela Uda, Renzo Galanello, Serena Sanna et al. · Proceedings of the National Academy of Sciences · 2008 · 655 citations · Full text

Immunohematology, Genetics, Bcl11a Gene +19

Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines

Kai Kisand, Anette S. B. Wolff, Katarina Trebušak Podkrajšek et al. · The Journal of Experimental Medicine · 2010 · 650 citations · Full text

Heritability of Cardiovascular and Personality Traits in 6,148 Sardinians

Giuseppe Pilia, Wei‐Min Chen, Angelo Scuteri et al. · PLoS Genetics · 2006 · 563 citations · Full text