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ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.
Shinar Y, Ceccherini I, Rowczenio D, Aksentijevich I, Arostegui J, Ben-Chétrit E, Boursier G, Gattorno M, Hayrapetyan H, Ida H, Kanazawa N, Lachmann HJ, Mensa-Vilaro A, Nishikomori R, Oberkanins C, Obici L, Ohara O, Ozen S, Sarkisian T, Sheils K, Wolstenholme N, Zonneveld-Huijssoon E, van Gijn ME, Touitou I. Shinar Y, et al. Among authors: nishikomori r. Clin Chem. 2020 Apr 1;66(4):525-536. doi: 10.1093/clinchem/hvaa024. Clin Chem. 2020. PMID: 32176780
High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study.
Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, Nishikomori R, Morimoto T, Kambe N, Goldbach-Mansky R, Aksentijevich I, de Saint Basile G, Neven B, van Gijn M, Frenkel J, Aróstegui JI, Yagüe J, Merino R, Ibañez M, Pontillo A, Takada H, Imagawa T, Kawai T, Yasumi T, Nakahata T, Heike T. Tanaka N, et al. Among authors: nishikomori r. Arthritis Rheum. 2011 Nov;63(11):3625-32. doi: 10.1002/art.30512. Arthritis Rheum. 2011. PMID: 21702021 Free PMC article.
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: nishikomori r. 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.
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.
Nakagawa K, Gonzalez-Roca E, Souto A, Kawai T, Umebayashi H, Campistol JM, Cañellas J, Takei S, Kobayashi N, Callejas-Rubio JL, Ortego-Centeno N, Ruiz-Ortiz E, Rius F, Anton J, Iglesias E, Jimenez-Treviño S, Vargas C, Fernandez-Martin J, Calvo I, Hernández-Rodríguez J, Mendez M, Dordal MT, Basagaña M, Bujan S, Yashiro M, Kubota T, Koike R, Akuta N, Shimoyama K, Iwata N, Saito MK, Ohara O, Kambe N, Yasumi T, Izawa K, Kawai T, Heike T, Yagüe J, Nishikomori R, Aróstegui JI. Nakagawa K, et al. Among authors: nishikomori r. Ann Rheum Dis. 2015 Mar;74(3):603-10. doi: 10.1136/annrheumdis-2013-204361. Epub 2013 Dec 10. Ann Rheum Dis. 2015. PMID: 24326009 Free article.
Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism.
Mensa-Vilaro A, Teresa Bosque M, Magri G, Honda Y, Martínez-Banaclocha H, Casorran-Berges M, Sintes J, González-Roca E, Ruiz-Ortiz E, Heike T, Martínez-Garcia JJ, Baroja-Mazo A, Cerutti A, Nishikomori R, Yagüe J, Pelegrín P, Delgado-Beltran C, Aróstegui JI. Mensa-Vilaro A, et al. Among authors: nishikomori r. Arthritis Rheumatol. 2016 Dec;68(12):3035-3041. doi: 10.1002/art.39770. Arthritis Rheumatol. 2016. PMID: 27273849
189 results