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Year Number of Results
2015 3
2016 7
2017 5
2018 10
2019 6
2020 6
2021 1
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Page 1
Systemic autoinflammatory diseases: Clinical state of the art.
Georgin-Lavialle S, Ducharme-Benard S, Sarrabay G, Savey L, Grateau G, Hentgen V. Georgin-Lavialle S, et al. Among authors: sarrabay g. Best Pract Res Clin Rheumatol. 2020 Aug;34(4):101529. doi: 10.1016/j.berh.2020.101529. Epub 2020 Jun 13. Best Pract Res Clin Rheumatol. 2020. PMID: 32546426 Review.
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
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
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: sarrabay g. 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
New data in causes of autoinflammatory diseases.
Kone-Paut I, Georgin-Laviallec S, Galeotti C, Rossi-Semerano L, Hentgen V, Savey L, Saadoun D, Sarrabay G, Touitou I. Kone-Paut I, et al. Among authors: sarrabay g. Joint Bone Spine. 2019 Oct;86(5):554-561. doi: 10.1016/j.jbspin.2018.11.003. Epub 2018 Nov 22. Joint Bone Spine. 2019. PMID: 30471422 Review.
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.
Reply to Sönmez et al.
Rama M, Touitou I, Sarrabay G. Rama M, et al. Among authors: sarrabay g. Eur J Hum Genet. 2018 Nov;26(11):1564-1565. doi: 10.1038/s41431-018-0242-z. Epub 2018 Sep 11. Eur J Hum Genet. 2018. PMID: 30206351 Free PMC article. No abstract available.
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