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Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet 2011;43(12):1256-61.
. Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes. Eur J Hum Genet 2011;19(4):422-31.
. Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes. Eur J Hum Genet 2011;19(4):422-31.
. Successful treatment of acne with isotretinoin in chronic granulomatous disease. Eur J Dermatol 2011;21(1):111-2.
. Successful treatment of acne with isotretinoin in chronic granulomatous disease. Eur J Dermatol 2011;21(1):111-2.
. Thromboembolism in pediatric inflammatory bowel disease: systematic review. Inflamm Bowel Dis 2011;17(10):2174-83.
. A 3'UTR SNP in NLRP3 gene is associated with susceptibility to HIV-1 infection. J Acquir Immune Defic Syndr 2010;54(3):236-40.
. Abatacept improves health-related quality of life, pain, sleep quality, and daily participation in subjects with juvenile idiopathic arthritis. Arthritis Care Res (Hoboken) 2010;62(11):1542-51.
. Acute respiratory failure in a child after talc inhalation. Respiration 2010;79(4):340.
. An alternative role of C1q in cell migration and tissue remodeling: contribution to trophoblast invasion and placental development. J Immunol 2010;185(7):4420-9.
. An alternative role of C1q in cell migration and tissue remodeling: contribution to trophoblast invasion and placental development. J Immunol 2010;185(7):4420-9.
. Anti transglutaminase antibodies cause ataxia in mice. PLoS One 2010;5(3):e9698.
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