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The spectrum of Familial Mediterranean Fever (FMF) mutations.
Touitou I. Touitou I. Eur J Hum Genet. 2001 Jul;9(7):473-83. doi: 10.1038/sj.ejhg.5200658. Eur J Hum Genet. 2001. PMID: 11464238 Review.
Boundaries between familial Mediterranean fever and juvenile spondyloarthritis: Analysis of three French retrospective cohorts.
Cherqaoui B, Rossi-Semerano L, Georgin-Lavialle S, Dusser P, Galeotti C, Piram M, Hentgen V, Touitou I, Koné-Paut I. Cherqaoui B, et al. Among authors: touitou i. Joint Bone Spine. 2018 Dec;85(6):733-739. doi: 10.1016/j.jbspin.2018.01.010. Epub 2018 Feb 13. Joint Bone Spine. 2018. PMID: 29452306
The Changing Concepts Regarding the Mediterranean Fever Gene: Toward a Spectrum of Pyrin-Associated Autoinflammatory Diseases with Variable Heredity.
Boursier G, Hentgen V, Sarrabay G, Koné-Paut I, Touitou I. Boursier G, et al. Among authors: touitou i. J Pediatr. 2019 Jun;209:12-16.e1. doi: 10.1016/j.jpeds.2019.02.039. Epub 2019 Mar 27. J Pediatr. 2019. PMID: 30928144 Review. No abstract available.
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.
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: touitou i. 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.
Reply to Sönmez et al.
Rama M, Touitou I, Sarrabay G. Rama M, et al. Among authors: touitou i. 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.
Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey.
Rowczenio D, Shinar Y, Ceccherini I, Sheils K, Van Gijn M, Patton SJ, Touitou I. Rowczenio D, et al. Among authors: touitou i. Eur J Hum Genet. 2019 Oct;27(10):1502-1508. doi: 10.1038/s41431-019-0439-9. Epub 2019 Jun 11. Eur J Hum Genet. 2019. PMID: 31186541 Free PMC article.
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
Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature.
Touitou I. Touitou I. J Med Genet. 2013 Jun;50(6):349-59. doi: 10.1136/jmedgenet-2013-101577. Epub 2013 Mar 27. J Med Genet. 2013. PMID: 23536687 Review.
Combined mutation and rearrangement screening by quantitative PCR high-resolution melting: is it relevant for hereditary recurrent Fever genes?
Pallares-Ruiz N, Philibert L, Dumont B, Fabre A, Cuisset L, Cointin E, Rittore C, Soler S, Touitou I. Pallares-Ruiz N, et al. Among authors: touitou i. PLoS One. 2010 Nov 23;5(11):e14096. doi: 10.1371/journal.pone.0014096. PLoS One. 2010. PMID: 21124859 Free PMC article.
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