Isabelle Touitou

Isabelle Touitou

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Isabelle Touitou

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Comment on: Familial Mediterranean fever: breaking all the (genetic) rules.

Authors:
Isabelle Touitou

Rheumatology (Oxford) 2020 Feb;59(2):452

Stem cells, Cellular Plasticity, Regenerative Medicine and Immunotherapies, INSERM, University of Montpellier, France.

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http://dx.doi.org/10.1093/rheumatology/kez086DOI Listing
February 2020

PSMB10, the last immunoproteasome gene missing for PRAAS.

J Allergy Clin Immunol 2019 Nov 26. Epub 2019 Nov 26.

IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France; Department of Medical Genetics, Rare Diseases and Personalized Medicine, Rare and Autoinflammatory Diseases Unit, CHU Montpellier, Univ Montpellier, Montpellier, France.

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http://dx.doi.org/10.1016/j.jaci.2019.11.024DOI Listing
November 2019

New data in causes of autoinflammatory diseases.

Joint Bone Spine 2019 Oct 22;86(5):554-561. Epub 2018 Nov 22.

Centre national de référence des maladies auto-inflammatoires et de l'amylose inflammatoire (CEREMAIA), 94270 Le Kremlin-Bicêtre, France; Cellules souches, plasticité cellulaire, médecine régénératrice et immunothérapies, Inserm, Université de Montpellier, 34090 Montpellier, France; Département de génétique médicale, maladies rares et médecine personnalisée, CHU de Montpellier, 34295 Montpellier, France.

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http://dx.doi.org/10.1016/j.jbspin.2018.11.003DOI Listing
October 2019

Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey.

Eur J Hum Genet 2019 Oct 11;27(10):1502-1508. Epub 2019 Jun 11.

INSERM, Department of Medical Genetics, Rare Diseases and Personalized Medicine, University of Montpellier, CEREMAIA, CHU Montpellier, Montpellier, France.

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http://dx.doi.org/10.1038/s41431-019-0439-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777449PMC
October 2019

Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases.

J Clin Med 2019 10 18;8(10). Epub 2019 Oct 18.

Cellules souches, plasticité cellulaire, médecine régénératrice et immunothérapies, INSERM, University Montpellier, Department of Medical Genetics, Rare Diseases and Personalized Medicine, CEREMAIA, CHU Montpellier, 34295 Montpellier, France.

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http://dx.doi.org/10.3390/jcm8101729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6832712PMC
October 2019

The Changing Concepts Regarding the Mediterranean Fever Gene: Toward a Spectrum of Pyrin-Associated Autoinflammatory Diseases with Variable Heredity.

J Pediatr 2019 Jun 27;209:12-16.e1. Epub 2019 Mar 27.

AP-HP, CHU de Bicetre, Pediatric Rheumatology, CEREMAIA, Le Kremlin Bicetre, Bicetre, France. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2019.02.039DOI Listing
June 2019

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

Ann Rheum Dis 2019 05 16;78(5):e35. Epub 2018 Mar 16.

Département de médecine interne et pneumologie, CHU de Brest, Hôpital La Cavale Blanche, Brest, France.

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http://dx.doi.org/10.1136/annrheumdis-2018-213347DOI Listing
May 2019

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

Int J Dermatol 2019 Jan 14;58(1):e16-e17. Epub 2018 Nov 14.

Department of Dermatology, University Hospital of Tours, University François-Rabelais, Tours, France.

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http://doi.wiley.com/10.1111/ijd.14293
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http://dx.doi.org/10.1111/ijd.14293DOI Listing
January 2019

Boundaries between familial Mediterranean fever and juvenile spondyloarthritis: Analysis of three French retrospective cohorts.

Joint Bone Spine 2018 12 13;85(6):733-739. Epub 2018 Feb 13.

Pediatric rheumatology, CHU de Bicêtre, AP-HP, 78, rue Gal-Leclerc, 94275 Le Kremlin-Bicêtre, France; CeRéMAIA, French reference center for auto-inflammatory diseases and inflammatory amyloidosis, 94270, Le Kremlin Bicêtre, France.

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http://dx.doi.org/10.1016/j.jbspin.2018.01.010DOI Listing
December 2018

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

Eur J Dermatol 2018 Dec;28(6):847-848

Metz-Thionville Regional Hospital, Dermatology Department, Metz, France.

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http://dx.doi.org/10.1684/ejd.2018.3427DOI Listing
December 2018

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

Ann Rheum Dis 2018 11 20;77(11):1697-1698. Epub 2018 Apr 20.

CIRI, Centre International de Recherche en Infectiologie - International Center for Infectiology Research, Lyon, France.

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http://dx.doi.org/10.1136/annrheumdis-2018-213300DOI Listing
November 2018

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

Ann Rheum Dis 2018 11 12;77(11):1558-1565. Epub 2018 Aug 12.

Clinica Pediatrica e Reumatologia-PRINTO, Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1136/annrheumdis-2017-212515DOI Listing
November 2018

Reply to Sönmez et al.

Eur J Hum Genet 2018 11 11;26(11):1564-1565. Epub 2018 Sep 11.

Laboratory of Rare and Autoinflammatory Genetic Diseases and CEREMAIA, Montpellier University Hospital, Montpellier, France.

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http://dx.doi.org/10.1038/s41431-018-0242-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6189082PMC
November 2018

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

Crit Rev Clin Lab Sci 2018 09 23;55(6):432-442. Epub 2018 Jul 23.

a Department of Medical Genetics, Rare Diseases and Personalized Medicine, CHU Montpellier , Stem Cells, Cellular Plasticity, Regenerative Medicine and Immunotherapies, INSERM, Univ Montpellier , Montpellier , France.

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http://dx.doi.org/10.1080/10408363.2018.1488805DOI Listing
September 2018

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

Autoimmun Rev 2018 Aug 8;17(8):809-815. Epub 2018 Jun 8.

Département de médecine interne et pneumologie, CHU de Brest, Hôpital La Cavale Blanche, Brest Cedex, France; EA 3878, GETBO, Université Bretagne Loire, Brest Cedex, France. Electronic address:

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http://dx.doi.org/10.1016/j.autrev.2018.02.012DOI Listing
August 2018

Association of TRAF1-C5 with risk of uveitis in juvenile idiopathic arthritis.

Joint Bone Spine 2017 May 28;84(3):305-308. Epub 2016 Jun 28.

Inserm, U1183, CHU Saint-Éloi, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France; Unité médicale des maladies auto-inflammatoires (Centre de référence), laboratoire de génétique, CHRU Arnaud-de-Villeneuve, 34295 Montpellier, France; University of Montpellier, boulevard Henri IV, 34090 Montpellier, France.

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http://dx.doi.org/10.1016/j.jbspin.2016.04.014DOI Listing
May 2017

Criteria for CAPS, is it all in the name?

Ann Rheum Dis 2017 05 16;76(5):e9. Epub 2016 Nov 16.

Reference Centre for Autoinflammatory Diseases, Hôpital A de Villeneuve, CHRU Montpellier, Montpellier, France.

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http://dx.doi.org/10.1136/annrheumdis-2016-210681DOI Listing
May 2017

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

Joint Bone Spine 2017 03 2;84(2):125-128. Epub 2016 Dec 2.

Service de rhumatologie pédiatrique, CeRéMAI, CHU de Bicêtre, University of Paris Sud France, AP-HP, 94270 Le-Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1016/j.jbspin.2016.11.008DOI Listing
March 2017

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

J Immunol Res 2017 8;2017:4915950. Epub 2017 Feb 8.

Inserm, U 1183, Institute for Regenerative Medicine and Biotherapies, CHU Saint Eloi, 80 Avenue Augustin Fliche, 34295 Montpellier Cedex 5, France; University of Montpellier, Boulevard Henri IV, 34090 Montpellier, France; Clinical Department for Osteoarticular Diseases and Biotherapy, University Hospital Lapeyronie, 34295 Montpellier, France.

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http://dx.doi.org/10.1155/2017/4915950DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5320318PMC
March 2017

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

Mol Genet Genomic Med 2017 Mar 14;5(2):110-116. Epub 2017 Jan 14.

Département de génétique médicale, maladies rares et médecine personnaliséeCHRU de MontpellierMontpellierFrance; INSERM UMR1183IRMBMontpellierFrance; Centre de référence des maladies autoinflammatoiresCeRéMAICHRU de MontpellierMontpellierFrance; Université de MontpellierMontpellierFrance.

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http://dx.doi.org/10.1002/mgg3.229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5370222PMC
March 2017

Dominant familial Mediterranean fever.

Rheumatology (Oxford) 2017 02 5;56(2):173-175. Epub 2016 May 5.

Centre de référence Céremai, Unité médicale des maladies autoinflammatoires, Hopital A de Villeneuve, CHU Montpellier

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http://dx.doi.org/10.1093/rheumatology/kew203DOI Listing
February 2017

Typical facial gestalt in X-linked Kabuki syndrome.

Am J Med Genet A 2016 12 2;170(12):3363-3364. Epub 2016 Aug 2.

CHU de Bordeaux, Service de Génétique Médicale, Hôpital Pellegrin, Bordeaux, France.

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http://dx.doi.org/10.1002/ajmg.a.37864DOI Listing
December 2016

Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.

Expert Rev Clin Immunol 2015 15;11(7):827-35. Epub 2015 May 15.

Laboratoire de génétique des maladies rares et auto-inflammatoires, CHRU, Montpellier, France.

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http://www.tandfonline.com/doi/full/10.1586/1744666X.2015.10
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http://dx.doi.org/10.1586/1744666X.2015.1047765DOI Listing
March 2016

Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency.

Medicine (Baltimore) 2016 Mar;95(11):e3027

From the Internal Medicine Department, Edouard Herriot Hospital, Lyon (C-AD, BC, JN, M-HG-M, AH); Internal Medicine Department, Côte de Nacre Hospital, Caen (AA, BB, SD); Medicine and Rheumatology Department, Saint-Louis Hospital, La Rochelle (BG); Inborn Errors of Metabolism Laboratory, Civil Hospital of Lyon, Bron (CA-B); Internal Medicine Department, Claude Huriez Hospital, Lille (EH, P-YH); Polyvalent Medicine Department, Cornouaille Hospital Center, Quimper (FL, PH); Autoinflammatory Diseases Medical Unit, Arnaud Villeuneuve Hospital, Montpellier (IT); Nephrology Department, Metropole Savoie Hospital Center, Chambéry (J-BP); Rheumatology Department, Louis Pasteur Hospital, Colmar (LM); Hematology Department, Arras Hospital Center, Arras, France (MB); Internal Medicine Department, Sart Tilman, Liège, Belgique (MM); Dermatology and Allergology Department, Saint-Eloi Hospital, Montpellier (NR-P); Internal Medicine Department, Saint-André Hospital, Bordeaux (PD); Nephrology Department, Lyon Sud Hospital Center, Pierre-Bénite (PT); Hematology Department, Princesse Grace Hospital Center, Monaco (PH); Internal Medicine Department, Saint-Vincent Hospital Center, Strasbourg (RC); Rheumatology Department, Charles Nicole Hospital, Rouen (TL); Department of Pediatrics, Necker-Enfants Malades Hospital, Paris (VB); Diabetology and Internal Medicine Department, Blois Hospital Center, Blois (VL); Internal Medicine Department, Bocage Central, Dijon (SA); Service de Biostatistique, Hospices civiles de Lyon, Université de Lyon 1, Villeurbanne; CNRS, UMR5558, Laboratoire de Biométrie et Biologie Evolutive, Equipe Biostatistique-Santé, Villeurbanne (DM-B); and Department of Biochemical Genetics, Hospital and Institut Cochin, Paris (LC), France.

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http://dx.doi.org/10.1097/MD.0000000000003027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839898PMC
March 2016

Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling.

Am J Med Genet A 2016 Jan 11;170A(1):263-5. Epub 2015 Sep 11.

Laboratoire de génétique des maladies rares et auto-inflammatoires, CHRU, Montpellier, France.

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http://dx.doi.org/10.1002/ajmg.a.37374DOI Listing
January 2016

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

Hum Mutat 2016 Jan 21;37(1):7-15. Epub 2015 Oct 21.

Laboratory of Rare and Autoinflammatory Diseases, CHRU, Montpellier, France.

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http://dx.doi.org/10.1002/humu.22915DOI Listing
January 2016

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

Nat Rev Rheumatol 2015 Oct 18;11(10):567-9. Epub 2015 Aug 18.

Laboratoire de Génétique des Maladies Rares et Autoinflammatoires, Hôpital Arnaud de Villeneuve, 34295 Montpellier Cedex 5, France.

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http://dx.doi.org/10.1038/nrrheum.2015.114DOI Listing
October 2015

Clinical utility gene card for: prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes).

Eur J Hum Genet 2015 Aug 19;23(8). Epub 2014 Nov 19.

1] CHRU Montpellier, Laboratoire de génétique des maladies rares et autoinflammatoires, Montpellier, France [2] Université de Montpellier, UM1, Montpellier, France [3] INSERM U844, Montpellier, France.

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http://dx.doi.org/10.1038/ejhg.2014.257DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795104PMC
August 2015

Tolerance and efficacy of off-label anti-interleukin-1 treatments in France: a nationwide survey.

Orphanet J Rare Dis 2015 Feb 15;10:19. Epub 2015 Feb 15.

Department of Paediatric Rheumatology, Hôpital de Bicêtre, APHP, National Reference Centre for Auto-inflammatory Diseases, Le Kremlin-Bicêtre, University of Paris Sud, CHU de Bicêtre. 78 Rue du Général Leclerc, 94270, Le Kremlin, Bicêtre, France.

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http://dx.doi.org/10.1186/s13023-015-0228-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4340831PMC
February 2015

Circulating miRNA-125b is a potential biomarker predicting response to rituximab in rheumatoid arthritis.

Mediators Inflamm 2014 20;2014:342524. Epub 2014 Mar 20.

Inserm U844, CHU Saint Eloi, Bâtiment INM, 80 Avenue Augustin Fliche, 34295 Montpellier Cedex 5, France ; Université Montpellier I, UFR de Médecine, Boulevard Henri IV, 34090 Montpellier, France ; Clinical Department for Osteoarticular Diseases, CHU Lapeyronie, Avenue Gaston Giraud, 34295 Montpellier, France.

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http://www.hindawi.com/journals/mi/2014/342524/
Publisher Site
http://dx.doi.org/10.1155/2014/342524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980876PMC
December 2014

Adult onset Still's disease (AOSD) in the era of biologic therapies: dichotomous view for cytokine and clinical expressions.

Autoimmun Rev 2014 Nov 27;13(11):1149-59. Epub 2014 Aug 27.

Department of Internal Medicine-Multiorganic Diseases, Saint-Eloi Hospital, 80 Avenue Augustin Fliche, F-34295 Montpellier, France; Inserm, U 844, Saint-Eloi Hospital, 80 Avenue Augustin Fliche, Montpellier F-34295, France. Electronic address:

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http://dx.doi.org/10.1016/j.autrev.2014.08.032DOI Listing
November 2014

Diagnostic dilemma in autoinflammatory disease in two patients: does the name matter?

Turk J Pediatr 2013 May-Jun;55(3):315-8

Division of Pediatric Nephrology and Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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July 2014

TNFRII polymorphism is associated with response to TNF blockers in rheumatoid arthritis patients seronegative for ACPA.

Joint Bone Spine 2014 Jul 22;81(4):370-2. Epub 2014 Jan 22.

Laboratoire de génétique des maladies rares et auto-inflammatoires (centre de référence), CHU Montpellier, Montpellier, France.

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http://dx.doi.org/10.1016/j.jbspin.2013.12.005DOI Listing
July 2014

Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneity.

Am J Med Genet A 2014 Mar 19;164A(3):769-73. Epub 2013 Dec 19.

Département de Génétique Médicale, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, CHRU Montpellier, Faculté de Médecine Université Montpellier 1, Montpellier, France.

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http://dx.doi.org/10.1002/ajmg.a.36331DOI Listing
March 2014

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

Eur J Hum Genet 2014 Feb 15;22(2):289-92. Epub 2013 May 15.

Departement de Genetique Medicale, Centre de Reference Maladies Rares Anomalies du Developpement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hopital Arnaud de Villeneuve CHRU Montpellier, Faculte de Medecine Universite Montpellier 1, Montpellier, France.

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http://dx.doi.org/10.1038/ejhg.2013.113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895633PMC
February 2014

Identification of a new exon 2-skipped TNFR1 transcript: regulation by three functional polymorphisms of the TNFR-associated periodic syndrome (TRAPS) gene.

Ann Rheum Dis 2014 Jan 16;73(1):290-7. Epub 2013 Mar 16.

Génétique des maladies Autoinflammatoires et des ostéoarthropathies chroniques, INSERM U844, Hôpital Saint Eloi, Bâtiment INM, , Montpellier, France.

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http://dx.doi.org/10.1136/annrheumdis-2012-203023DOI Listing
January 2014

Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency.

J Clin Immunol 2014 Jan 1;34(1):123-6. Epub 2013 Nov 1.

Pediatric Infectious Diseases Research Center, Children's Medical Center, Tehran University of Medical Sciences, 62 Gharib St, 14194, Tehran, Iran,

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http://dx.doi.org/10.1007/s10875-013-9955-5DOI Listing
January 2014

Lack of TEK Gene Mutation in Patients with Cutaneomucosal Venous Malformations from the North-Western Region of Algeria.

Genet Res Int 2013 9;2013:784789. Epub 2013 Dec 9.

Unité Médicale des Maladies Auto-Inflammatoires, Département de Génétique, CHRU, Montpellier, 34961 Montpellier Cedex 2, France.

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http://dx.doi.org/10.1155/2013/784789DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3872160PMC
January 2014

Evidence-based recommendations for the practical management of Familial Mediterranean Fever.

Semin Arthritis Rheum 2013 Dec 3;43(3):387-91. Epub 2013 Jun 3.

Centre national de Référence des maladies Auto-Inflammatoires, CeRéMAI, Centre Hospitalier de Versailles, 177, rue de Versailles, 78150 Le Chesnay Cedex, France. Electronic address:

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http://dx.doi.org/10.1016/j.semarthrit.2013.04.011DOI Listing
December 2013

The expanding spectrum of rare monogenic autoinflammatory diseases.

Orphanet J Rare Dis 2013 Oct 16;8:162. Epub 2013 Oct 16.

Laboratoire de génétique des maladies rares et auto-inflammatoires, CHRU de Montpellier, Montpellier, France.

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http://dx.doi.org/10.1186/1750-1172-8-162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4016572PMC
October 2013

Association Analysis of IL10, TNF-α, and IL23R-IL12RB2 SNPs with Behçet's Disease Risk in Western Algeria.

Front Immunol 2013 21;4:342. Epub 2013 Oct 21.

Laboratory of Applied Molecular Biology and Immunology. Department of Biology, Abou-Bekr Belkaïd University , Tlemcen , Algeria.

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http://dx.doi.org/10.3389/fimmu.2013.00342DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3801160PMC
October 2013

Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature.

Authors:
Isabelle Touitou

J Med Genet 2013 Jun 27;50(6):349-59. Epub 2013 Mar 27.

CHRU Montpellier, UM1, INSERMU844, UMAI, laboratoire de génétique, Hopital A de Villeneuve, 34295, Montpellier Cedex 15, France.

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http://dx.doi.org/10.1136/jmedgenet-2013-101577DOI Listing
June 2013

Kimura's disease and Behcet's syndrome in the same family--are they associated?

Joint Bone Spine 2013 Jan 29;80(1):44-7. Epub 2012 Jun 29.

Department of Medicine, Rheumatology Unit, Hadassah-Hebrew University Medical Center Head, POB 12000, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.jbspin.2012.04.001DOI Listing
January 2013

New genetic interpretation of old diseases.

Authors:
Isabelle Touitou

Autoimmun Rev 2012 Nov 2;12(1):5-9. Epub 2012 Aug 2.

UMAI, Laboratoire de Génétique, CHRU Montpellier, Université Montpellier 1, UM1, INSERM U844, France.

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http://dx.doi.org/10.1016/j.autrev.2012.07.014DOI Listing
November 2012

TGF beta1 polymorphisms are candidate predictors of the clinical response to rituximab in rheumatoid arthritis.

Joint Bone Spine 2012 Oct 29;79(5):471-5. Epub 2011 Nov 29.

Inserm U844, Unité Génétique Clinique, Département Thérapeutique et Médecine Physique Ostéoarticulaire, CHU de Montpellier, 34295 Montpellier, France.

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http://dx.doi.org/10.1016/j.jbspin.2011.10.007DOI Listing
October 2012

SNPs in the TNF-α gene promoter associated with Behcet's disease in Moroccan patients.

Rheumatology (Oxford) 2012 Sep 17;51(9):1595-9. Epub 2012 Jun 17.

Unité médicale des maladies Auto-inflammatoires, CHRU Montpellier, Hôpital A. de Villeneuve, 371 avenue du Doyen Gaston Giraud, Montpellier Cedex 5, France.

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http://dx.doi.org/10.1093/rheumatology/kes141DOI Listing
September 2012

Blau arteritis resembling Takayasu disease with a novel NOD2 mutation.

J Rheumatol 2012 Sep 1;39(9):1888-92. Epub 2012 Aug 1.

Division of Rheumatology, DuPont Children's Hospital, 1600 Rockland Road, Wilmington, DE 19899, USA.

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http://dx.doi.org/10.3899/jrheum.120156DOI Listing
September 2012

NLRP7 mutation analysis in sporadic hydatidiform moles in Tunisian patients: NLRP7 and sporadic mole.

Arch Pathol Lab Med 2012 Jun;136(6):646-51

Laboratoire d’anatomie et decytologie pathologiques-CHU, Farhat Hached, Rue Ibn Eljazzar, Sousse 4000, Tunisia.

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http://dx.doi.org/10.5858/arpa.2011-0399-OADOI Listing
June 2012

The spectrum of NLRP7 mutations in French patients with recurrent hydatidiform mole.

Eur J Obstet Gynecol Reprod Biol 2011 Aug 25;157(2):197-9. Epub 2011 Mar 25.

Université Lyon 1, C.H.U. Lyon Sud, Centre Français de Référence des Maladies Trophoblastiques, Service de Chirurgie Gynécologique et Oncologique-Obstétrique, 69495 Pierre-Bénite cedex, France.

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http://dx.doi.org/10.1016/j.ejogrb.2011.02.019DOI Listing
August 2011

Screening for NLRP7 mutations in familial and sporadic recurrent hydatidiform moles: report of 2 Tunisian families.

Int J Gynecol Pathol 2011 Jul;30(4):348-53

Laboratoire d'anatomie et de cytologie pathologiques, de génétique moléculaire et de biologie de reproduction, CHU Farhat Hached, Sousse, Tunisie.

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http://dx.doi.org/10.1097/PGP.0b013e31820dc3b0DOI Listing
July 2011

Current data on familial Mediterranean fever.

Joint Bone Spine 2011 Mar 11;78(2):111-4. Epub 2010 Nov 11.

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http://dx.doi.org/10.1016/j.jbspin.2010.09.021DOI Listing
March 2011

Expression of the familial Mediterranean fever gene is regulated by nonsense-mediated decay.

Hum Mol Genet 2009 Dec 15;18(24):4746-55. Epub 2009 Sep 15.

Génétique des Maladies Auto-Inflammatoires, Institut de Génétique Humaine, CNRS-UPR1142, Montpellier, France.

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http://dx.doi.org/10.1093/hmg/ddp437DOI Listing
December 2009

Familial mediterranean Fever in the world.

Arthritis Rheum 2009 Oct;61(10):1447-53

Familial Mediterranean Fever Center, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://doi.wiley.com/10.1002/art.24458
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http://dx.doi.org/10.1002/art.24458DOI Listing
October 2009

The clinical spectrum of 94 patients carrying a single mutated MEFV allele.

Rheumatology (Oxford) 2009 Jul 22;48(7):840-2. Epub 2009 May 22.

Department of Paediatrics and Paediatric Rheumatology, Hôpital de Bicêtre, National Reference Centre for Auto-inflammatory Disorders, Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1093/rheumatology/kep121DOI Listing
July 2009

Web resources for rare auto-inflammatory diseases: towards a common patient registry.

Rheumatology (Oxford) 2009 Jun 25;48(6):665-9. Epub 2009 Mar 25.

CHRU Montpellier, Unité Médicale des Maladies Auto-inflammatoires, Hôpital A de Villeneuve, Montpellier, France.

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http://dx.doi.org/10.1093/rheumatology/kep056DOI Listing
June 2009

Autoinflammatory diseases.

Best Pract Res Clin Rheumatol 2008 Oct;22(5):811-29

CHU Montpellier, Unité médicale des maladies autoinflammatoires, Hôpital A de Villeneuve, Montpellier, France.

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http://dx.doi.org/10.1016/j.berh.2008.08.009DOI Listing
October 2008

Fifth International Congress on Familial Mediterranean Fever and Systemic Autoinflammatory Diseases.

Expert Rev Clin Immunol 2008 Jul;4(4):425-8

CHU Montpellier, Unité Médicale des Maladies Auto-Inflammatoires, Hôpital Arnaud de Villeneuve, Montpellier, F-34295, France.

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http://dx.doi.org/10.1586/1744666X.4.4.425DOI Listing
July 2008

MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.

Semin Arthritis Rheum 2007 Jun 5;36(6):397-401. Epub 2007 Feb 5.

Faculté de Médicine, Laboratory of Human Genetics, 17 rue Jebel Lakhdar, Tunis 1007, Tunisia.

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http://dx.doi.org/10.1016/j.semarthrit.2006.12.004DOI Listing
June 2007

Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?

Am J Pharmacogenomics 2004 ;4(2):109-18

Laboratoire de Génétique Moléculaire et Chromosomique, Hôpital Arnaud de Villeneuve, Montpellier, France.

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http://dx.doi.org/10.2165/00129785-200404020-00005DOI Listing
July 2004

FMF revisited.

Eur J Hum Genet 2004 Mar;12(3):255

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http://dx.doi.org/10.1038/sj.ejhg.5201170DOI Listing
March 2004

Standardized testing for mutations in familial Mediterranean fever.

Authors:
Isabelle Touitou

Clin Chem 2003 Nov;49(11):1781-2

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http://dx.doi.org/10.1373/clinchem.2003.025791DOI Listing
November 2003

Should patients with FMF undergo BMT?

Authors:
Isabelle Touitou

Blood 2003 Feb;101(3):1205; author reply 1205-6

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http://dx.doi.org/10.1182/blood-2002-10-3066DOI Listing
February 2003

INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations.

Nucleic Acids Res 2003 Jan;31(1):282-5

Institute of Human Genetics-CNRS UPR 1142, 141, rue de la Cardonille, 34396 Montpellier Cedex 5, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC165478PMC
http://dx.doi.org/10.1093/nar/gkg031DOI Listing
January 2003

The MetaFMF website: a high quality tool for meta-analysis of FMF.

Nucleic Acids Res 2003 Jan;31(1):286-90

Institute of Human Genetics-CNRS UPR 1142, 141, rue de la Cardonille, 34396 Montpellier Cedex 5, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC165544PMC
http://dx.doi.org/10.1093/nar/gkg097DOI Listing
January 2003

Reduced MEFV messenger RNA expression in patients with familial Mediterranean fever.

Arthritis Rheum 2002 Oct;46(10):2785-93

Laboratoire de Génétique Moléculaire et Chromosomique, Hôpital Arnaud de Villeneuve, 371 Avenue du Doyen Gaston Giraud, 34295 Montpellier Cedex 5, France.

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http://dx.doi.org/10.1002/art.10575DOI Listing
October 2002

[Genetic diagnosis of periodic diseases (familial mediterranean fever or FMF)].

Authors:
Isabelle Touitou

Pathol Biol (Paris) 2002 Jul;50(6):357-60

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http://dx.doi.org/10.1016/s0369-8114(02)00316-4DOI Listing
July 2002