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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: boursier g. Clin Chem. 2020 Apr 1;66(4):525-536. doi: 10.1093/clinchem/hvaa024. Clin Chem. 2020. PMID: 32176780
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.
Rama M, Duflos C, Melki I, Bessis D, Bonhomme A, Martin H, Doummar D, Valence S, Rodriguez D, Carme E, Genevieve D, Heimdal K, Insalaco A, Franck N, Queyrel-Moranne V, Tieulie N, London J, Uettwiller F, Georgin-Lavialle S, Belot A, Koné-Paut I, Hentgen V, Boursier G, Touitou I, Sarrabay G. Rama M, et al. Among authors: boursier g. Eur J Hum Genet. 2018 Jul;26(7):960-971. doi: 10.1038/s41431-018-0130-6. Epub 2018 Apr 23. Eur J Hum Genet. 2018. PMID: 29681619 Free PMC article.
PSMB10, the last immunoproteasome gene missing for PRAAS.
Sarrabay G, Méchin D, Salhi A, Boursier G, Rittore C, Crow Y, Rice G, Tran TA, Cezar R, Duffy D, Bondet V, Boudhane L, Broca C, Kant BP, VanGijn M, Grandemange S, Richard E, Apparailly F, Touitou I. Sarrabay G, et al. Among authors: boursier g. J Allergy Clin Immunol. 2020 Mar;145(3):1015-1017.e6. doi: 10.1016/j.jaci.2019.11.024. Epub 2019 Nov 26. J Allergy Clin Immunol. 2020. PMID: 31783057 No abstract available.
Clinical and pathological dermatological features of deficiency of adenosine deaminase 2: A multicenter, retrospective, observational study.
Chasset F, Fayand A, Moguelet P, Kouby F, Bonhomme A, Franck N, Goldman-Lévy G, Fraitag S, Barbaud A, Queyrel V, Touitou I, Boursier G, Sarrabay G, Ducharme-Benard S, Dupin N, Francès C, Bessis D, Georgin-Lavialle S; Groupe d'étude des maladies systémiques en dermatologie and Centre de référence des maladies auto-inflammatoires et des amyloses d'origine inflammatoire. Chasset F, et al. Among authors: boursier g. J Am Acad Dermatol. 2020 Dec;83(6):1794-1798. doi: 10.1016/j.jaad.2020.03.110. Epub 2020 Apr 10. J Am Acad Dermatol. 2020. PMID: 32283244 No abstract available.
80 results