Giada Tortora
University of Bologna
Publications 5
#1Dorien Schepers (University of Antwerp)H-Index: 7
#2Giada Tortora (UNIBO: University of Bologna)H-Index: 4
Last.Bart Loeys (Radboud University Nijmegen)H-Index: 56
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The Loeys-Dietz syndrome (LDS) is a connective tissue disorder affecting the cardiovascular, skeletal and ocular system. Most typically, LDS patients present with aortic aneurysms and arterial tortuosity, hypertelorism and bifid/broad uvula or cleft palate. Initially, mutations in transforming growth factor-β (TGF-β) receptors (TGFBR1 and TGFBR2) were described to cause LDS, hereby leading to impaired TGF-β signaling. More recently, TGF-β ligands, TGFB2 and TGFB3, as well as intracellular downst...
#1Giada Tortora (UNIBO: University of Bologna)H-Index: 4
#2Anita Wischmeijer (UNIBO: University of Bologna)H-Index: 14
Last.Davide Pacini (UNIBO: University of Bologna)H-Index: 34
view all 13 authors...
#1Elena Bonora (UNIBO: University of Bologna)H-Index: 7
#2Claudio Graziano (UNIBO: University of Bologna)H-Index: 15
Last.Giovanni Romeo (UNIBO: University of Bologna)H-Index: 56
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Intellectual disability (ID) and autism spectrum disorders (ASDs) are complex neuropsychiatric conditions, with overlapping clinical boundaries in many patients. We identified a novel intragenic deletion of maternal origin in two siblings with mild ID and epilepsy in the CADPS2 gene, encoding for a synaptic protein involved in neurotrophin release and interaction with dopamine receptor type 2 (D2DR). Mutation screening of 223 additional patients (187 with ASD and 36 with ID) identified a missens...
#1Anita Wischmeijer (UNIBO: University of Bologna)H-Index: 14
#2Lut Van Laer (University of Antwerp)H-Index: 37
Last.Bart Loeys (University of Antwerp)H-Index: 56
view all 20 authors...
Recently, mutations in the SMAD3 gene were found to cause a new autosomal dominant aneurysm condition similar to Loeys-Dietz syndrome (LDS), mostly with osteoarthritis, called aneurysms-osteoarthritis syndrome (AOS). Our 3-year-old propositus underwent correction of an inguinal hernia at 3 months and substitution of the ascending aorta for pathologic dilation at 12 months of age. Family history reveals aortic dilation in his mother at 30 years, death due to aortic dissection of an 18-year-old ma...