11573/1443329 - 2020 -
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy Micale, L.; Morlino, S.; Biagini, T.; Carbone, A.; Fusco, C.; Ritelli, M.; Giambra, V.; Zoppi, N.; Nardella, G.; Notarangelo, A.; Schirizzi, A.; Mazzoccoli, G.; Grammatico, P.; Wade, E. M.; Mazza, T.; Colombi, M.; Castori, M. - 01a Articolo in rivista
rivista: BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE (Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL: nlinfo-f@elsevier.nl, INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598) pp. - - issn: 0925-4439 - wos: WOS:000527950000016 (7) - scopus: 2-s2.0-85081199839 (7)
11573/1264524 - 2019 -
LTBP2-related “Marfan-like” phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant Morlino, Silvia; Alesi, Viola; Calì, Federica; Lepri, Francesca Romana; Secinaro, Aurelio; Grammatico, Paola; Novelli, Antonio; Drago, Fabrizio; Castori, Marco; Baban, Anwar - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 104-112 - issn: 1552-4825 - wos: WOS:000456891400016 (8) - scopus: 2-s2.0-85058675375 (7)
11573/1199296 - 2018 -
Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder Morlino, Silvia; Dordoni, Chiara; Sperduti, Isabella; Clark, Carol J; Piedimonte, Caterina; Fontana, Andrea; Colombi, Marina; Grammatico, Paola; Copetti, Massimiliano; Castori, Marco - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS (Hoboken, N.J. : Wiley-Liss, c2003-) pp. - - issn: 1552-4841 - wos: WOS:000454541200003 (4) - scopus: 2-s2.0-85057097284 (4)
11573/1281939 - 2017 -
Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology Piceci, F.; Morlino, S.; Castori, M.; Buffone, E.; De Luca, A.; Grammatico, P.; Guida, V. - 01a Articolo in rivista
rivista: CLINICAL GENETICS (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 774-779 - issn: 0009-9163 - wos: WOS:000399353200015 (13) - scopus: 2-s2.0-84987665797 (16)
11573/782128 - 2015 -
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. Castori, M; Dordoni, C; Morlino, Silvia; Sperduti, I; Ritelli, M; Valiante, M; Chiarelli, N; Zanca, A; Celletti, C; Venturini, M; Camerota, F; Calzavara-Pinton, P; Grammatico, P; Colombi, M. - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS (Hoboken, NJ : Wiley-Liss, c2003) pp. 43-53 - issn: 1552-4868 - wos: WOS:000352112700004 (23) - scopus: 2-s2.0-84925657452 (30)