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Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B. Bögershausen N, et al. Among authors: sarrabay g. Hum Mutat. 2016 Sep;37(9):847-64. doi: 10.1002/humu.23026. Epub 2016 Jul 7. Hum Mutat. 2016. PMID: 27302555
Dominant familial Mediterranean fever.
Sarrabay G, Touitou I. Sarrabay G, et al. Rheumatology (Oxford). 2017 Feb;56(2):173-175. doi: 10.1093/rheumatology/kew203. Epub 2016 May 5. Rheumatology (Oxford). 2017. PMID: 27150192 No abstract available.
[Mevalonate kinase deficiency in 2016].
Galeotti C, Georgin-Lavialle S, Sarrabay G, Touitou I, Koné-Paut I. Galeotti C, et al. Among authors: sarrabay g. Rev Med Interne. 2018 Apr;39(4):265-270. doi: 10.1016/j.revmed.2016.08.019. Epub 2016 Sep 19. Rev Med Interne. 2018. PMID: 27659743 French.
Criteria for CAPS, is it all in the name?
Touitou I, Sarrabay G. Touitou I, et al. Among authors: sarrabay g. Ann Rheum Dis. 2017 May;76(5):e9. doi: 10.1136/annrheumdis-2016-210681. Epub 2016 Nov 16. Ann Rheum Dis. 2017. PMID: 27852576 No abstract available.
A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).
Grandemange S, Sanchez E, Louis-Plence P, Tran Mau-Them F, Bessis D, Coubes C, Frouin E, Seyger M, Girard M, Puechberty J, Costes V, Rodière M, Carbasse A, Jeziorski E, Portales P, Sarrabay G, Mondain M, Jorgensen C, Apparailly F, Hoppenreijs E, Touitou I, Geneviève D. Grandemange S, et al. Among authors: sarrabay g. Ann Rheum Dis. 2017 Jul;76(7):1191-1198. doi: 10.1136/annrheumdis-2016-210021. Epub 2016 Dec 13. Ann Rheum Dis. 2017. PMID: 27965258
47 results