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209 results

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Page 1
Mevalonate kinase deficiency: a survey of 50 patients.
Bader-Meunier B, Florkin B, Sibilia J, Acquaviva C, Hachulla E, Grateau G, Richer O, Farber CM, Fischbach M, Hentgen V, Jego P, Laroche C, Neven B, Lequerré T, Mathian A, Pellier I, Touitou I, Rabier D, Prieur AM, Cuisset L, Quartier P; SOFREMIP (Société Francophone pour la Rhumatologie et les Maladies Inflammatoires en Pédiatrie); CRI (Club Rhumatismes et Inflammations). Bader-Meunier B, et al. Among authors: touitou i. Pediatrics. 2011 Jul;128(1):e152-9. doi: 10.1542/peds.2010-3639. Epub 2011 Jun 27. Pediatrics. 2011. PMID: 21708801
The autoinflammatory diseases: a fashion with blurred boundaries!
Sarrabay G, Barat-Houari M, Annakib S, Touitou I. Sarrabay G, et al. Among authors: touitou i. Semin Immunopathol. 2015 Jul;37(4):359-62. doi: 10.1007/s00281-015-0495-3. Epub 2015 May 22. Semin Immunopathol. 2015. PMID: 25998913 Review.
Dominant familial Mediterranean fever.
Sarrabay G, Touitou I. Sarrabay G, et al. Among authors: touitou i. 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.
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: touitou i. Hum Mutat. 2016 Sep;37(9):847-64. doi: 10.1002/humu.23026. Epub 2016 Jul 7. Hum Mutat. 2016. PMID: 27302555
[Mevalonate kinase deficiency in 2016].
Galeotti C, Georgin-Lavialle S, Sarrabay G, Touitou I, Koné-Paut I. Galeotti C, et al. Among authors: touitou i. 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. 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.
209 results