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Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity.
Harper AR, Goel A, Grace C, Thomson KL, Petersen SE, Xu X, Waring A, Ormondroyd E, Kramer CM, Ho CY, Neubauer S; HCMR Investigators; Tadros R, Ware JS, Bezzina CR, Farrall M, Watkins H. Harper AR, et al. Nat Genet. 2021 Feb;53(2):135-142. doi: 10.1038/s41588-020-00764-0. Epub 2021 Jan 25. Nat Genet. 2021. PMID: 33495597 Free PMC article.
Single-nucleotide polymorphism heritability indicated a strong polygenic influence, especially for sarcomere-negative HCM (64% of cases; h(2)(g) = 0.34 0.02). A genetic risk score showed substantial influence on the odds of HCM in a validation study, halving the odds in th …
Single-nucleotide polymorphism heritability indicated a strong polygenic influence, especially for sarcomere-negative HCM (64% of cases; h(2 …
Tc-99m labelled bone scintigraphy in suspected cardiac amyloidosis.
Rauf MU, Hawkins PN, Cappelli F, Perfetto F, Zampieri M, Argiro A, Petrie A, Law S, Porcari A, Razvi Y, Bomsztyk J, Ravichandran S, Ioannou A, Patel R, Starr N, Hutt DF, Mahmood S, Wisniowski B, Martinez-Naharro A, Venneri L, Whelan C, Roczenio D, Gilbertson J, Lachmann HJ, Wechalekar AD, Rapezzi C, Serenelli M, Massa P, Caponetti AG, Ponziani A, Accietto A, Giovannetti A, Saturi G, Sguazzotti M, Gagliardi C, Biagini E, Longhi S, Fontana M, Gillmore JD. Rauf MU, et al. Eur Heart J. 2023 Jun 25;44(24):2187-2198. doi: 10.1093/eurheartj/ehad139. Eur Heart J. 2023. PMID: 36946431 Free PMC article.
Prognostic value of quantitative contrast-enhanced cardiovascular magnetic resonance for the evaluation of sudden death risk in patients with hypertrophic cardiomyopathy.
Chan RH, Maron BJ, Olivotto I, Pencina MJ, Assenza GE, Haas T, Lesser JR, Gruner C, Crean AM, Rakowski H, Udelson JE, Rowin E, Lombardi M, Cecchi F, Tomberli B, Spirito P, Formisano F, Biagini E, Rapezzi C, De Cecco CN, Autore C, Cook EF, Hong SN, Gibson CM, Manning WJ, Appelbaum E, Maron MS. Chan RH, et al. Circulation. 2014 Aug 5;130(6):484-95. doi: 10.1161/CIRCULATIONAHA.113.007094. Circulation. 2014. PMID: 25092278 Clinical Trial.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Serpieri V, Mortarini G, Loucks H, Biagini T, Micalizzi A, Palmieri I, Dempsey JC, D'Abrusco F, Mazzotta C, Battini R, Bertini ES, Boltshauser E, Borgatti R, Brockmann K, D'Arrigo S, Nardocci N, Fischetto R, Agolini E, Novelli A, Romano A, Romaniello R, Stanzial F, Signorini S, Strisciuglio P, Gana S, Mazza T, Doherty D, Valente EM. Serpieri V, et al. J Med Genet. 2023 Sep;60(9):885-893. doi: 10.1136/jmg-2022-108725. Epub 2023 Feb 14. J Med Genet. 2023. PMID: 36788019 Free PMC article.
Genotyping of several markers identified four novel European founder haplotypes.Two recurrent variants (MKS1 c.1476T>G and KIAA0586 c.428delG), have been detected in homozygosity in unaffected individuals, suggesting they could act as hypomorphic variants. …
Genotyping of several markers identified four novel European founder haplotypes.Two recurrent variants (MKS1 c.1476T>G and …
Clinical and Prognostic Implications of Right Ventricular Uptake on Bone Scintigraphy in Transthyretin Amyloid Cardiomyopathy.
Porcari A, Fontana M, Canepa M, Biagini E, Cappelli F, Gagliardi C, Longhi S, Pagura L, Tini G, Dore F, Bonfiglioli R, Bauckneht M, Miceli A, Girardi F, Martini AL, Barbati G, Costanzo EN, Caponetti AG, Paccagnella A, Sguazzotti M, La Malfa G, Zampieri M, Sciagrà R, Perfetto F, Rowczenio D, Gilbertson J, Hutt DF, Hawkins PN, Rapezzi C, Merlo M, Sinagra G, Gillmore JD. Porcari A, et al. Circulation. 2024 Apr 9;149(15):1157-1168. doi: 10.1161/CIRCULATIONAHA.123.066524. Epub 2024 Feb 8. Circulation. 2024. PMID: 38328945 Free PMC article.
Osteolytic extra-axial sacral myxopapillary ependymoma.
Biagini R, Demitri S, Orsini U, Bibiloni J, Briccoli A, Bertoni F. Biagini R, et al. Skeletal Radiol. 1999 Oct;28(10):584-9. doi: 10.1007/s002560050624. Skeletal Radiol. 1999. PMID: 10550537 Review.
Atypical Subendocardial Late Gadolinium Enhancement in Anderson-Fabry Cardiomyopathy.
Ditaranto R, Chiti C, Milandri A, Lai F, Lovato L, Graziosi M, Graziani F, Pieroni M, Cappelli F, Limongelli G, Olivotto I, Biagini E. Ditaranto R, et al. Circ Cardiovasc Imaging. 2024 Oct;17(10):e016865. doi: 10.1161/CIRCIMAGING.124.016865. Epub 2024 Jul 12. Circ Cardiovasc Imaging. 2024. PMID: 38994576 No abstract available.
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFbeta-mediated alpha-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 EM, Mazza T, Colombi M, Castori M. Micale L, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Jun 1;1866(6):165742. doi: 10.1016/j.bbadis.2020.165742. Epub 2020 Feb 24. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32105826 Free article.
Here, the functional effects of the MAP3K7 c.737-7A > G variant, previously identified in a girl with CSCFS and additional soft connective tissue features, were explored. ...Co-immunoprecipitation studies demonstrate that the ectopic expression of TAK1-mutated pr …
Here, the functional effects of the MAP3K7 c.737-7A > G variant, previously identified in a girl with CSCFS and additional …
Rapid point-of-care test to detect broad ranges of protective antigen-specific immunoglobulin G concentrations in recipients of the U.S.-licensed anthrax vaccine.
Bienek DR, Biagini RE, Charlton DG, Smith JP, Sammons DL, Robertson SA. Bienek DR, et al. Clin Vaccine Immunol. 2008 Apr;15(4):644-9. doi: 10.1128/CVI.00473-07. Epub 2008 Mar 5. Clin Vaccine Immunol. 2008. PMID: 18321882 Free PMC article.
Using a prototype lateral flow assay (LFA) (R. E. Biagini, D. L. Sammons, J. P. Smith, B. A. MacKenzie, C. A. F. Striley, J. E. Snawder, S. A. Robertson, and C. P. Quinn, Clin. Vaccine Immunol. 13:541-546, 2006), we investigated the agreement between a …
Using a prototype lateral flow assay (LFA) (R. E. Biagini, D. L. Sammons, J. P. Smith, B. A. MacKenzie, C. A. F. Striley, J. E …
41 results