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BMC Pediatrics|May 19, 2010
Co-existence of phenylketonuria and Fabry disease on a 3 year-old boy: case reportDaniela Concolino, Maria Rapsomaniki, Eliana Disabella, et al.
BJR Case Reports|December 10, 2020
Multivessel endovascular therapy for undiagnosed vascular type Ehlers-Danlos syndrome. Successful percutaneous transcatheter coil embolization of hepatic artery pseudoaneurysm with stenting of right renal and iliac arteries in emergency settingLorenzo Paolo Moramarco, Carlo Alberto Capodaglio, Pietro Quaretti, et al.
Rivista Di Biologia|November 8, 2007
Pro-inflammatory variants of DRB1 and RAGE genes are associated with susceptibility to pediatric type 1 diabetes: a new hypothesis on the adaptive role of autoimmunityGiuseppe Damiani, Ilaria Campo, Michele Zorzetto, et al.
Respiratory Medicine|November 19, 2019
Pulmonary emphysema not combined with lung fibrosis in systemic sclerosisAndrea Franconeri, Emiliano Marasco, Roberto Dore, et al.
Heart (British Cardiac Society)|January 8, 2011
Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2)Eliana Disabella, Maurizia Grasso, Fabiana Isabella Gambarin, et al.
Molecular Genetics and Metabolism|June 23, 2009
The shortness of Pygmies is associated with severe under-expression of the growth hormone receptorMauro Bozzola, Paola Travaglino, Nicola Marziliano, et al.
Journal of Cardiovascular Medicine (Hagerstown, Md.)|May 19, 2009
Transcriptomic and proteomic analysis in the cardiovascular setting: unravelling the disease?Nicola Marziliano, Maurizia Grasso, Andrea Pilotto, et al.
The American Journal of Cardiology|November 10, 2010
When should cardiologists suspect Anderson-Fabry disease?Fabiana I Gambarin, Eliana Disabella, Jagat Narula, et al.
European Journal of Human Genetics : EJHG|October 28, 2005
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defectsEliana Disabella, Maurizia Grasso, Nicola Marziliano, et al.
Human Mutation|October 14, 2005
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathiesEloisa Arbustini, Maurizia Grasso, Silvia Ansaldi, et al.
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