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Items: 1 to 20 of 157

1.

A single nucleotide polymorphism of IL6-receptor is associated with response to tocilizumab in rheumatoid arthritis patients.

Luxembourger C, Ruyssen-Witrand A, Ladhari C, Rittore C, Degboe Y, Maillefert JF, Gaudin P, Marotte H, Wendling D, Jorgensen C, Cantagrel A, Constantin A, Nigon D, Touitou I, Gottenberg JE, Pers YM.

Pharmacogenomics J. 2019 Jan 16. doi: 10.1038/s41397-019-0072-6. [Epub ahead of print]

PMID:
30647443
2.

Chronic leg ulcer revealing adenosine deaminase 2 deficiency: an atypical presentation.

Martin H, Bursztejn AC, Cuny JF, Sarrabay G, Schmutz JL, Touitou I, Wahl D, Bonhomme A.

Eur J Dermatol. 2018 Dec 1;28(6):847-848. doi: 10.1684/ejd.2018.3427. No abstract available.

PMID:
30514670
3.

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.

Joint Bone Spine. 2018 Nov 22. pii: S1297-319X(18)30426-3. doi: 10.1016/j.jbspin.2018.11.003. [Epub ahead of print]

PMID:
30471422
4.

Successful therapy with secukinumab in a patient with generalized pustular psoriasis carrying homozygous IL36RN p.His32Arg mutation.

Gabeff R, Safar R, Leducq S, Maruani A, Sarrabay G, Touitou I, Samimi M.

Int J Dermatol. 2019 Jan;58(1):e16-e17. doi: 10.1111/ijd.14293. Epub 2018 Nov 14. No abstract available.

PMID:
30430544
5.

Reply to Sönmez et al.

Rama M, Touitou I, Sarrabay G.

Eur J Hum Genet. 2018 Nov;26(11):1564-1565. doi: 10.1038/s41431-018-0242-z. Epub 2018 Sep 11. No abstract available.

PMID:
30206351
6.

Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study.

Ben-Chetrit E, Gattorno M, Gul A, Kastner DL, Lachmann HJ, Touitou I, Ruperto N; Paediatric Rheumatology International Trials Organisation (PRINTO) and the AIDs Delphi study participants.

Ann Rheum Dis. 2018 Nov;77(11):1558-1565. doi: 10.1136/annrheumdis-2017-212515. Epub 2018 Aug 12. Review.

PMID:
30100561
7.

Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review.

Labrousse M, Kevorkian-Verguet C, Boursier G, Rowczenio D, Maurier F, Lazaro E, Aggarwal M, Lemelle I, Mura T, Belot A, Touitou I, Sarrabay G.

Crit Rev Clin Lab Sci. 2018 Sep;55(6):432-442. doi: 10.1080/10408363.2018.1488805. Epub 2018 Jul 23.

PMID:
30035647
8.

Autosomic dominant familial Behçet disease and haploinsufficiency A20: A review of the literature.

Berteau F, Rouviere B, Delluc A, Nau A, Le Berre R, Sarrabay G, Touitou I, de Moreuil C.

Autoimmun Rev. 2018 Aug;17(8):809-815. doi: 10.1016/j.autrev.2018.02.012. Epub 2018 Jun 8. Review.

PMID:
29890348
9.

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.

Eur J Hum Genet. 2018 Jul;26(7):960-971. doi: 10.1038/s41431-018-0130-6. Epub 2018 Apr 23.

PMID:
29681619
10.

Large deletion in 6q associated to A20 haploinsufficiency and thoracoabdominal heterotaxy.

Viel S, Cheyssac E, Pescarmona R, Besson L, Till M, Viremouneix L, Touitou I, Sarrabay G, Walzer T, Belot A.

Ann Rheum Dis. 2018 Nov;77(11):1697-1698. doi: 10.1136/annrheumdis-2018-213300. Epub 2018 Apr 20. No abstract available.

PMID:
29678940
11.

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.

J Med Genet. 2018 Aug;55(8):530-537. doi: 10.1136/jmedgenet-2017-105216. Epub 2018 Mar 29.

PMID:
29599418
12.

Response to: 'A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease'.

Berteau F, Rouvière B, Nau A, Le Berre R, Sarrabay G, Touitou I, de Moreuil C.

Ann Rheum Dis. 2018 Mar 16. pii: annrheumdis-2018-213347. doi: 10.1136/annrheumdis-2018-213347. [Epub ahead of print] No abstract available.

PMID:
29549169
13.

[Tumor necrosis receptor associated periodic syndrome (TRAPS): State of the art].

Georgin-Lavialle S, Kone-Paut I, Delaleu J, Sarrabay G, Grateau G, Touitou I, Hentgen V.

Rev Med Interne. 2018 Apr;39(4):256-264. doi: 10.1016/j.revmed.2018.02.002. Epub 2018 Mar 7. French.

PMID:
29525418
14.

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.

Joint Bone Spine. 2018 Dec;85(6):733-739. doi: 10.1016/j.jbspin.2018.01.010. Epub 2018 Feb 13.

PMID:
29452306
15.

Second tyrosine kinase inhibitor discontinuation attempt in patients with chronic myeloid leukemia.

Legros L, Nicolini FE, Etienne G, Rousselot P, Rea D, Giraudier S, Guerci-Bresler A, Huguet F, Gardembas M, Escoffre M, Ianotto JC, Noël MP, Varet BR, Pagliardini T, Touitou I, Morisset S, Mahon FX; French Intergroup for Chronic Myeloid Leukemias.

Cancer. 2017 Nov 15;123(22):4403-4410. doi: 10.1002/cncr.30885. Epub 2017 Jul 25.

16.

Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype.

Grandemange S, Cabasson S, Sarrabay G, Pène J, Rittore C, Sanchez E, Chastang MC, Guyon G, Pillet P, Touitou I.

Mol Genet Genomic Med. 2017 Jan 14;5(2):110-116. doi: 10.1002/mgg3.229. eCollection 2017 Mar.

17.

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

Lehman N, Mazery AC, Visier A, Baumann C, Lachesnais D, Capri Y, Toutain A, Odent S, Mikaty M, Goizet C, Taupiac E, Jacquemont ML, Sanchez E, Schaefer E, Gatinois V, Faivre L, Minot D, Kayirangwa H, Sang KLQ, Boddaert N, Bayard S, Lacombe D, Moutton S, Touitou I, Rio M, Amiel J, Lyonnet S, Sanlaville D, Picot MC, Geneviève D.

Clin Genet. 2017 Sep;92(3):298-305. doi: 10.1111/cge.13010. Epub 2017 May 18.

18.

TMEM187-IRAK1 Polymorphisms Associated with Rheumatoid Arthritis Susceptibility in Tunisian and French Female Populations: Influence of Geographic Origin.

Khalifa O, Balandraud N, Lambert N, Auger I, Roudier J, Sénéchal A, Geneviève D, Picard C, Lefranc G, Touitou I, Mrenda BM, Benedito C, Pardoux E, Gagez AL, Pers YM, Jorgensen C, Mahjoub T, Apparailly F.

J Immunol Res. 2017;2017:4915950. doi: 10.1155/2017/4915950. Epub 2017 Feb 8.

19.

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.

Ann Rheum Dis. 2017 Jul;76(7):1191-1198. doi: 10.1136/annrheumdis-2016-210021. Epub 2016 Dec 13.

PMID:
27965258
20.

How to favour efficient networking of teams working in the field of rare diseases? Experience of the CeRéMAI reference centre for auto-inflammatory diseases.

Touitou I, Milhavet F, Hentgen V, Koné-Paut I.

Joint Bone Spine. 2017 Mar;84(2):125-128. doi: 10.1016/j.jbspin.2016.11.008. Epub 2016 Dec 2. No abstract available.

PMID:
27919670

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