Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 21

1.

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
2.

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
3.

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
4.

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
5.

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
6.

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
7.

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
8.

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
9.

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
10.

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
11.

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.

12.

Digenic MEFV/TNFRSF1A autoinflammatory syndrome with relapsing aseptic neutrophilic meningitis and chronic myelitis.

Murarasu A, Dodé C, Sarrabay G, Klein I, Papo T, Sacré K.

Clin Exp Rheumatol. 2017 Nov-Dec;35 Suppl 108(6):128-129. Epub 2017 Jan 26. No abstract available.

PMID:
28134085
13.

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
14.

Criteria for CAPS, is it all in the name?

Touitou I, Sarrabay G.

Ann Rheum Dis. 2017 May;76(5):e9. doi: 10.1136/annrheumdis-2016-210681. Epub 2016 Nov 16. No abstract available.

PMID:
27852576
15.

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.

Reddy R, Nguyen NM, Sarrabay G, Rezaei M, Rivas MC, Kavasoglu A, Berkil H, Elshafey A, Abdalla E, Nunez KP, Dreyfus H, Philippe M, Hadipour Z, Durmaz A, Eaton EE, Schubert B, Ulker V, Hadipour F, Touitou I, Fardaei M, Slim R.

Eur J Hum Genet. 2016 Oct;24(10):1516. doi: 10.1038/ejhg.2016.96. No abstract available.

16.

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.

Hum Mutat. 2016 Sep;37(9):847-64. doi: 10.1002/humu.23026. Epub 2016 Jul 7.

PMID:
27302555
17.

Dominant familial Mediterranean fever.

Sarrabay G, Touitou I.

Rheumatology (Oxford). 2017 Feb;56(2):173-175. doi: 10.1093/rheumatology/kew203. Epub 2016 May 5. No abstract available.

PMID:
27150192
18.

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.

Reddy R, Nguyen NM, Sarrabay G, Rezaei M, Rivas MC, Kavasoglu A, Berkil H, Elshafey A, Abdalla E, Nunez KP, Dreyfus H, Philippe M, Hadipour Z, Durmaz A, Eaton EE, Schubert B, Ulker V, Hadipour F, Ahmadpour F, Touitou I, Fardaei M, Slim R.

Eur J Hum Genet. 2016 Oct;24(10):1445-52. doi: 10.1038/ejhg.2016.9. Epub 2016 Mar 9. Erratum in: Eur J Hum Genet. 2016 Oct;24(10 ):1516.

19.

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.

Barat-Houari M, Sarrabay G, Gatinois V, Fabre A, Dumont B, Genevieve D, Touitou I.

Hum Mutat. 2016 Jan;37(1):7-15. doi: 10.1002/humu.22915. Epub 2015 Oct 21. Review.

PMID:
26443184
20.

Autoinflammation. Management of hereditary recurrent fevers--SHARE experience.

Sarrabay G, Touitou I.

Nat Rev Rheumatol. 2015 Oct;11(10):567-9. doi: 10.1038/nrrheum.2015.114. Epub 2015 Aug 18.

PMID:
26282081

Supplemental Content

Loading ...
Support Center