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103 results

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Page 1
Guidelines for the genetic diagnosis of hereditary recurrent fevers.
Shinar Y, Obici L, Aksentijevich I, Bennetts B, Austrup F, Ceccherini I, Costa JM, De Leener A, Gattorno M, Kania U, Kone-Paut I, Lezer S, Livneh A, Moix I, Nishikomori R, Ozen S, Phylactou L, Risom L, Rowczenio D, Sarkisian T, van Gijn ME, Witsch-Baumgartner M, Morris M, Hoffman HM, Touitou I; European Molecular Genetics Quality Network. Shinar Y, et al. Among authors: rowczenio d. Ann Rheum Dis. 2012 Oct;71(10):1599-605. doi: 10.1136/annrheumdis-2011-201271. Epub 2012 Jun 1. Ann Rheum Dis. 2012. PMID: 22661645 Free PMC article.
Sex differences among patients with transthyretin amyloid cardiomyopathy - from diagnosis to prognosis.
Patel RK, Ioannou A, Razvi Y, Chacko L, Venneri L, Bandera F, Knight D, Kotecha T, Martinez-Naharro A, Masi A, Porcari A, Brown J, Patel K, Manisty C, Moon J, Rowczenio D, Gilbertson JA, Sinagra G, Lachmann H, Wechalekar A, Petrie A, Whelan C, Hawkins PN, Gillmore JD, Fontana M. Patel RK, et al. Among authors: rowczenio d. Eur J Heart Fail. 2022 Dec;24(12):2355-2363. doi: 10.1002/ejhf.2646. Epub 2022 Aug 16. Eur J Heart Fail. 2022. PMID: 36575133 Free PMC article.
Antibody-Associated Reversal of ATTR Amyloidosis-Related Cardiomyopathy.
Fontana M, Gilbertson J, Verona G, Riefolo M, Slamova I, Leone O, Rowczenio D, Botcher N, Ioannou A, Patel RK, Razvi Y, Martinez-Naharro A, Whelan CJ, Venneri L, Duhlin A, Canetti D, Ellmerich S, Moon JC, Kellman P, Al-Shawi R, McCoy L, Simons JP, Hawkins PN, Gillmore JD. Fontana M, et al. Among authors: rowczenio d. N Engl J Med. 2023 Jun 8;388(23):2199-2201. doi: 10.1056/NEJMc2304584. N Engl J Med. 2023. PMID: 37285532 No abstract available.
Cardiac transplantation in transthyretin amyloid cardiomyopathy: Outcomes from three decades of tertiary center experience.
Razvi Y, Porcari A, Di Nora C, Patel RK, Ioannou A, Rauf MU, Masi A, Law S, Chacko L, Rezk T, Ravichandran S, Gilbertson J, Rowczenio D, Blakeney IJ, Kaza N, Hutt DF, Lachmann H, Wechalekar A, Moody W, Lim S, Chue C, Whelan C, Venneri L, Martinez-Naharro A, Merlo M, Sinagra G, Livi U, Hawkins P, Fontana M, Gillmore JD. Razvi Y, et al. Among authors: rowczenio d. Front Cardiovasc Med. 2023 Jan 19;9:1075806. doi: 10.3389/fcvm.2022.1075806. eCollection 2022. Front Cardiovasc Med. 2023. PMID: 36741843 Free PMC article.
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. Among authors: rowczenio d. 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.
Prevalence, characteristics and outcomes of older patients with hereditary versus wild-type transthyretin amyloid cardiomyopathy.
Porcari A, Razvi Y, Masi A, Patel R, Ioannou A, Rauf MU, Hutt DF, Rowczenio D, Gilbertson J, Martinez-Naharro A, Venneri L, Whelan C, Lachmann H, Wechalekar A, Quarta CC, Merlo M, Sinagra G, Hawkins PN, Fontana M, Gillmore JD. Porcari A, et al. Among authors: rowczenio d. Eur J Heart Fail. 2023 Apr;25(4):515-524. doi: 10.1002/ejhf.2776. Epub 2023 Jan 30. Eur J Heart Fail. 2023. PMID: 36644836 Free article.
Deep phenotyping of p.(V142I)-associated variant transthyretin amyloid cardiomyopathy: Distinct from wild-type transthyretin amyloidosis?
Razvi Y, Ioannou A, Patel RK, Chacko L, Karia N, Riefolo M, Porcari A, Rauf MU, Starr N, Ganesananthan S, Blakeney I, Kaza N, Filisetti S, Bolhuis RE, Rowczenio D, Gilbertson J, Hutt D, Mahmood S, Lachmann HJ, Wechalekar AD, Kotecha T, Knight DS, Coghlan JG, Petrie A, Whelan CJ, Venneri L, Martinez-Naharro A, Hawkins P, Fontana M, Gillmore JD. Razvi Y, et al. Among authors: rowczenio d. Eur J Heart Fail. 2024 Feb;26(2):383-393. doi: 10.1002/ejhf.3088. Epub 2024 Jan 28. Eur J Heart Fail. 2024. PMID: 37953725
New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).
Van Gijn ME, Ceccherini I, Shinar Y, Carbo EC, Slofstra M, Arostegui JI, Sarrabay G, Rowczenio D, Omoyımnı E, Balci-Peynircioglu B, Hoffman HM, Milhavet F, Swertz MA, Touitou I. Van Gijn ME, et al. Among authors: rowczenio d. J Med Genet. 2018 Aug;55(8):530-537. doi: 10.1136/jmedgenet-2017-105216. Epub 2018 Mar 29. J Med Genet. 2018. PMID: 29599418
Classification criteria for autoinflammatory recurrent fevers.
Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, Anton J, Arostegui JI, Barron K, Ben-Cherit E, Brogan PA, Cantarini L, Ceccherini I, De Benedetti F, Dedeoglu F, Demirkaya E, Frenkel J, Goldbach-Mansky R, Gul A, Hentgen V, Hoffman H, Kallinich T, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Laxer RM, Livneh A, Obici L, Ozen S, Rowczenio D, Russo R, Shinar Y, Simon A, Toplak N, Touitou I, Uziel Y, van Gijn M, Foell D, Garassino C, Kastner D, Martini A, Sormani MP, Ruperto N; Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO). Gattorno M, et al. Among authors: rowczenio d. Ann Rheum Dis. 2019 Aug;78(8):1025-1032. doi: 10.1136/annrheumdis-2019-215048. Epub 2019 Apr 24. Ann Rheum Dis. 2019. PMID: 31018962 Free article. Review.
103 results