Pubblicazioni

Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement

2022 - GENETICS IN MEDICINE

Micale, L.; Morlino, S.; Carbone, A.; Carissimo, A.; Nardella, G.; Fusco, C.; Palumbo, O.; Schirizzi, A.; Russo, F.; Mazzoccoli, G.; Breckpot, J.; De Luca, C.; Ferraris, A.; Giunta, C.; Grammatico, P.; Haanpaa, M. K.; Mancano, G.; Forzano, G.; Cacchiarelli, D.; Van Esch, H.; Callewaert, B.; Rohrbach, M.; Castori, M.

Re: "The Impact of Degenerative Connective Tissue Disorders on Outcomes Following Endovascular Aortic Intervention in the Global Registry for Endovascular Aortic Treatment"

2022 - ANNALS OF VASCULAR SURGERY

Bozzani, Antonio; Arici, Vittorio; Ragni, Franco; Sterpetti, Antonio V; Quaretti, Pietro; Arbustini, Eloisa

Atypical variants in {COL}1A1 and {COL}3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports

2022 - CLINICAL AND EXPERIMENTAL RHEUMATOLOGY

Colman, Marlies; Castori, Marco; Micale, Lucia; Ritelli, Marco; Colombi, Marina; Ghali, Neeti; Van Dijk, Fleur; Marsili, Luisa; Weeks, Adrienne; Vandersteen, Anthony; Rideout, Andrea; Legrand, Anne; Frank, Michael; Mirault, Tristan; Ferraris, Alessandro; DI GIOSAFFATTE, Niccolo'; Grammatico, Paola; Grunert, Juergen; Frank, Charissa; Symoens, Sofie; Syx, Delfien; Malfait, Fransiska

Clinical comparison of a xenogeneic collagen matrix versus subepithelial autogenous connective tissue graft for augmentation of soft tissue around implants

2020 - INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY

De Angelis, P.; De Angelis, S.; Passarelli, P. C.; Liguori, M. G.; Pompa, G.; Papi, P.; Manicone, P. F.; D'Addona, A.

Ricerc@Sapienza

Pubblicazioni

Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement

Re: "The Impact of Degenerative Connective Tissue Disorders on Outcomes Following Endovascular Aortic Intervention in the Global Registry for Endovascular Aortic Treatment"

Atypical variants in {COL}1A1 and {COL}3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports

Clinical comparison of a xenogeneic collagen matrix versus subepithelial autogenous connective tissue graft for augmentation of soft tissue around implants

Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients

LTBP2-related âMarfan-likeâ phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant

Commentary: Biochemical Markers for Diagnosis and Follow-up of Aortic Diseases: An Endless Search for the Holy Grail

Tumour-induced osteomalacia

Pseudoxanthoma elasticum and reflectance confocal microscopy. report of two affected young sisters

Chievitz' juxtaparotid organ, free from cancer