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2019 2
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2023 3
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Page 1
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Leone MP, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, Baldo D, Turolla L, Piccione M, Salzano E, Busè M, Lastella P, Zollino M, Cantone R, Grosso E, Zonta A, Pasini B, Piscopo C, De Maggio I, Priolo M, Mammi C, Foiadelli T, Trabatti C, Savasta S, Iolascon A, Ferraris A, Lodato V, Di Giosaffatte N, Majore S, Selicorni A, Petracca A, Fusco C, Celli M, Guarnieri V, Micale L, Castori M. Leone MP, et al. Among authors: di giosaffatte n. Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20. Hum Genet. 2023. PMID: 37079061
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. 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.
Long-term outcomes of COVID-19 vaccination in patients with rare and complex connective tissue diseases: The ERN-ReCONNET VACCINATE study.
Tani C, Cardelli C, Depascale R, Gamba A, Iaccarino L, Doria A, Bandeira M, Dinis SP, Romão VC, Gotelli E, Paolino S, Cutolo M, Di Giosaffatte N, Ferraris A, Grammatico P, Cavagna L, Codullo V, Montecucco C, Longo V, Beretta L, Cavazzana I, Fredi M, Peretti S, Guiducci S, Matucci-Cerinic M, Bombardieri S, Burmester GR, Fonseca JE, Frank C, Galetti I, Hachulla E, Müller-Ladner U, Schneider M, Smith V, Tamirou F, Van Laar JM, Vieira A, D'Urzo R, Cannizzo S, Gaglioti A, Marinello D, Talarico R, Mosca M. Tani C, et al. Among authors: di giosaffatte n. J Transl Autoimmun. 2023 Nov 28;7:100221. doi: 10.1016/j.jtauto.2023.100221. eCollection 2023 Dec. J Transl Autoimmun. 2023. PMID: 38162456 Free PMC article.
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2?
Di Giosaffatte N, Ferraris A, Gaudioso F, Lodato V, Savino E, Celletti C, Camerota F, Bargiacchi S, Laino L, Majore S, Bottillo I, Grammatico P. Di Giosaffatte N, et al. Genes (Basel). 2022 Dec 14;13(12):2358. doi: 10.3390/genes13122358. Genes (Basel). 2022. PMID: 36553625 Free PMC article.
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.
Scott A, Di Giosaffatte N, Pinna V, Daniele P, Corno S, D'Ambrosio V, Andreucci E, Marozza A, Sirchia F, Tortora G, Mangiameli D, Di Marco C, Romagnoli M, Donati I, Zonta A, Grosso E, Naretto VG, Mastromoro G, Versacci P, Pantaleoni F, Radio FC, Mazza T, Damante G, Papi L, Mattina T, Giancotti A, Pizzuti A, Laberge AM, Tartaglia M, Delrue MA, De Luca A. Scott A, et al. Among authors: di giosaffatte n. Genet Med. 2021 Jun;23(6):1116-1124. doi: 10.1038/s41436-020-01093-7. Epub 2021 Feb 10. Genet Med. 2021. PMID: 33568805 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: di giosaffatte n. 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.
12 results