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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.
A Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome.
Rodrigues FG, Petrushkin H, Webster AR, Bickerstaff M, Moraitis E, Rowczenio D, Aróstegui JI, Westcott M. Rodrigues FG, et al. Among authors: rowczenio d. Ophthalmic Genet. 2021 Dec;42(6):753-764. doi: 10.1080/13816810.2021.1946701. Epub 2021 Jul 12. Ophthalmic Genet. 2021. PMID: 34251956
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.
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
102 results