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COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
Morlino S, Micale L, Ritelli M, Rohrbach M, Zoppi N, Vandersteen A, Mackay S, Agolini E, Cocciadiferro D, Sasaki E, Madeo A, Ferraris A, Reardon W, Di Rocco M, Novelli A, Grammatico P, Malfait F, Mazza T, Hakim A, Giunta C, Colombi M, Castori M. Morlino S, et al. Among authors: ferraris a. Clin Genet. 2020 Mar;97(3):396-406. doi: 10.1111/cge.13683. Epub 2019 Dec 12. Clin Genet. 2020. PMID: 31794058
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.
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, Haanpää MK, Mancano G, Forzano G, Cacchiarelli D, Van Esch H, Callewaert B, Rohrbach M, Castori M. Micale L, et al. Among authors: ferraris a. Genet Med. 2022 Feb;24(2):439-453. doi: 10.1016/j.gim.2021.10.009. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906501 Free article.
Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.
Colman M, Castori M, Micale L, Ritelli M, Colombi M, Ghali N, Van Dijk F, Marsili L, Weeks A, Vandersteen A, Rideout A, Legrand A, Frank M, Mirault T, Ferraris A, Di Giosaffatte N, Grammatico P, Grunert J, Frank C, Symoens S, Syx D, Malfait F. Colman M, et al. Among authors: ferraris a. Clin Exp Rheumatol. 2022 May;40 Suppl 134(5):46-62. doi: 10.55563/clinexprheumatol/kzkq6y. Epub 2022 May 18. Clin Exp Rheumatol. 2022. PMID: 35587586 Free article.
Answer to Letter to the Editor regarding the article "Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion".
Pascolini G, Valiante M, Bottillo I, Laino L, Fleischer N, Ferraris A, Grammatico P. Pascolini G, et al. Among authors: ferraris a. Eur J Med Genet. 2020 Oct;63(10):103993. doi: 10.1016/j.ejmg.2020.103993. Epub 2020 Jun 20. Eur J Med Genet. 2020. PMID: 32574611 No abstract available.
Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman.
Di Giosaffatte N, Bottillo I, Laino L, Iaquinta G, Ferraris A, Garzia M, Bargiacchi S, Mulargia C, Angelitti MR, Palumbo F, Grammatico B, Bartolelli C, Salerno MG, Rigacci L, Grammatico P. Di Giosaffatte N, et al. Among authors: ferraris a. Prenat Diagn. 2022 Jul;42(8):1000-1003. doi: 10.1002/pd.6158. Epub 2022 May 7. Prenat Diagn. 2022. PMID: 35506546 Free PMC article.
Ehlers-Danlos syndromes: state of the art on clinical practice guidelines.
Sulli A, Talarico R, Scirè CA, Avcin T, Castori M, Ferraris A, Frank C, Grunert J, Paolino S, Bombardieri S, Schneider M, Smith V, Cutolo M, Mosca M, Malfait F. Sulli A, et al. Among authors: ferraris a. RMD Open. 2018 Oct 18;4(Suppl 1):e000790. doi: 10.1136/rmdopen-2018-000790. eCollection 2018. RMD Open. 2018. PMID: 30402275 Free PMC article.
268 results