Publications
Since 1998

Muhlstein J, Golfier F, Rittore C, Hajri T, Philibert L, Abel F, Beneteau C, Touitou I.
The spectrum of NLRP7 mutations in French patients with recurrent hydatidiform mole.
Muhlstein J, Golfier F, Rittore C, Hajri T, Philibert L, Abel F, Beneteau C, Touitou I.
(2011), Eur J Obstet Gynecol Reprod Biol.
[Medline - Abstract]

Koné-Paut I, Hentgen V, Touitou I.
Current data on familial Mediterranean fever.
(2011), Joint Bone Spine. : 78(2):111-4.
[Medline - Abstract]

Cuisset, L., Jeru, I., Dumont, B., Fabre, A., Cochet, E., Le Bozec, J., Delpech, M., Amselem, S., Touitou, I.; and the French CAPS study group.
Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France.
(2011), Ann. Rheum. Dis. 70(3):495-9. Epub 2010 Nov 24.
[Medline - Abstract]

Pallares-Ruiz N, Philibert L, Dumont B, Fabre A, Cuisset L, Cointin E, Rittore C, Soler S, Touitou I.
Combined mutation and rearrangement screening by quantitative PCR high-resolution melting: is it relevant for hereditary recurrent Fever genes?
(2010), PLoS One. : 23;5(11):e14096.
[Medline - Abstract]

Muhlstein J, Golfier F, Frappart L, Poulizac G, Abel F, Touitou I, Hajri T, Raudrant D. .
Review: Repetitive hydatidiform moles.
(2010), Gynecol Obstet Fertil : 38, 11, 672-676
[Medline - Abstract]

Soler, S., Rittore, C., Touitou, I., Philibert, L.
A comparison of restriction fragment length polymorphism, tetra primer amplification refractory mutation system PCR and unlabeled probe melting analysis for LTA+252 C>T SNP genotyping
(2010), Clin. Chim. Acta : in press
[Medline - Abstract]

Touitou, I. .
What is the role of reference centers in rare diseases? How a company can work with a reference center in rare diseases?.
(2010), Presse Med. : in press
[Medline - Abstract]

Ben-Chetrit E, Touitou I..
Familial mediterranean Fever in the world.
(2009), Arthritis Rheum : 61(10):1447-53
[Medline - Abstract]

Gathmann B, Grimbacher B, Beauté J, Dudoit Y, Mahlaoui N, Fischer A, Knerr V, Kindle G; ESID Registry Working Party..
The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008.
(2009), Clin Exp Immunol. : 157 Suppl1, 3-11
[Medline - Abstract]

Grandemange S, Soler S, Touitou I..
Expression of the familial Mediterranean fever (FMF) gene is regulated by nonsense-mediated decay (NMD).
(2009), Hum Mol Genet. : 18, 24, 4746-4755
[Medline - Abstract]

Koné-Paut, I., Hentgen, V., Guillaume-Czitrom, S., Compeyrot-Lacassagne, S., Tran, TA., Touitou, I. on behalf of The French Reference Centre for Auto-Inflammatory Diseases. .
The clinical spectrum of 94 patients carrying a single mutated MEFV allele
(2009), Rheumatology (Oxford). : 48, 7, 840-842.
[Medline - Abstract]

Notarnicola C, Boizet-Bonhoure B, de Santa Barbara P, Osta MA, Cattan D, Touitou I. .
Characterization of new mutations in the 5'-flanking region of the familial Mediterranean fever gene.
(2009), Genes Immun : 10, 3, 273-279
[Medline - Abstract]

Puechberty, J., Rittore, C., Philibert, L., Lefort, G., Burlet, G., Bénos, P., Reyftmann, L., Sarda, P., Touitou, I. .
Homozygous NLRP7 mutations in a Moroccan woman with recurrent reproductive failure.
(2009), Clin Genet. : 75, 3, 298-300
[Medline - Abstract]

Touitou I, Rittore C, Philibert L, Yagüe J, Shinar Y, Aksentijevich I. .
An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvement.
(2009), Eur J Hum Genet : 17, 7, 890-896
[Medline - Abstract]

Touitou, I, Hentgen V, Koné-Paut, AI.; on behalf of The French Reference Centre for Auto-Inflammatory Diseases..
Web resources for rare auto-inflammatory diseases: towards a common patient registry.
(2009), Rheumatology (Oxford). : 48, 6, 665-669
[Medline - Abstract]

Touitou, I. .
Comment on: Web resources for rare auto-inflammatory diseases: towards a common patient registry: reply.
(2009), Rheumatology (Oxford) : kep342v1-kep342
[Medline - Abstract]

Ben-Chetrit, E., Touitou, I. .
A patient with periodic fever syndrome: a 20-year delay in diagnosis
(2008), Scand J Rheumatol : in press
[Medline - Abstract]

Efthimiou, P., Flavell, RA., Furlan, A., Gasbarrini, G., Gava, A., Koné-Paut, I., Manna, R., Punzi, L., Sutterwala, FS., Touitou, I., Doria, A..
Autoinflammatory syndromes and infections: pathogenetic and clinical implications.
(2008), Clin. Exp. Rheumatol : 26, (1 Suppl 48), S53-61
[Medline - Abstract]

Milhavet F., Sarrauste de Menthiere C., Touitou I..
The international society for systemic auto-inflammatory diseases (ISSAID)
(2008), CLINICAL AND EXPERIMENTAL RHEUMATOLOGY : 26(2):222 DD1

Milhavet, F., Cuisset, L., hoffman, H., Slim, R., El-Shanti, H., Aksentijevich, I., Lesage, S., Waterham, H., Wise, C., Sarrauste de Menthière, C., Touitou, I..
The Infevers auto-inflammatory mutation online registry: update with new genes and functions
(2008), HUM. MUTATION : 29(6):803-8
[Medline - Abstract]

Touitou I, Koné-Paut I..
Autoinflammatory diseases.
(2008), Best Pract Res Clin Rheumatol. : 22, 5, 811-829
[Medline - Abstract]

van der Hilst, JC., Bodar, EJ., Barron, KS., Frenkel, J., Drenth, JP., van der Meer, JW., Simon, A., International HIDS Study Group (Touitou, I.) .
Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome.
(2008), Medicine, (Baltimore) : 87, 6, 301-310
[Medline - Abstract]

van Gijn, ME., Soler, S., de la Chapelle, C., Mulder, M., Ritorre, C., Kriek, M., Philibert, L., van der Wielen, M., Frenkel, J., Grandemange, S., Bakker, E., Ploos van Amstel, JK., Touitou, I. .
Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres.
(2008), Eur. J. Hum. Genet.. : 16, 11, 1404-1406
[Medline - Abstract]

Chaabouni HB, Ksantini M, Mrad R, Kharrat M, Chaabouni M, Maazoul F, Bahloul Z, Ben Jemaa L, Ben Moussa F, Ben Chaabane T, Mrad S, Touitou I, Smaoui N.
MEFV Mutations in Tunisian Patients Suffering from Familial Mediterranean Fever.
(2007), Semin Arthritis Rheum. : 36, 6, 397-401
[Medline - Abstract]

Chassaing, N., Touitou, I., Cattan, D., Calvas..
ABCC6 is unlikely to be a modifier gene for familial Mediterranean fever severity
(2007), J. GENET. : 86, 3, 293-295
[Medline - Abstract]

Kone-Paut I, Hentgen V, Guillaume S, Touitou I. .
The child with fever in pyrins time
(2007), Arch Pediatr. : 14, 6, 652-655
[Medline - Abstract]

Kone-Paut I, Sanchez E, Le Quellec A, Manna R, Touitou I..
Autoinflammatory gene mutations in Behcet
(2007), Ann Rheum Dis. : 66, 6, 832-834
[Medline - Abstract]

TOUITOU I.
REPLY
(2007), Arthritis Rheum : 56, 11, 3880
[Medline - Abstract]

Touitou I, Dumont B, Pourtein M, Perelman S, Sirvent A, Soler C..
Transmission of familial Mediterranean fever mutations following bone marrow transplantation.
(2007), Clin Genet : 72, 2, 162-163
[Medline - Abstract]

Touitou I, Sarkisian T, Medlej-Hashim M, Tunca M, Livneh A, Cattan D, Yalcinkaya F, Ozen S, Majeed H, Ozdogan H, Kastner D, Booth D, Ben-Chetrit E, Pugnere D, Michelon C, Seguret F, Gershoni-Baruch R. .
Country as the primary risk factor for renal amyloidosis in familial mediterranean fever
(2007), Arthritis Rheum. : 56, 5, 1706-1712
[Medline - Abstract]

Touitou, I., Kone-paut, I..
Fièvres récurrentes héréditaires: diagnostic et traitement
(2007), REV. RHUM. : 74, 783-789

Federici, L., Rittore-Domingo, C., Kone-Paut, I., Jorgensen, C., Rodiere, M., Le Quellec, A., Touitou, I..
A decision tree for genetic diagnosis of hereditary periodic fevers in unselected patients.
(2006), Ann Rheum Dis. : 65, 1427-1432
[Medline - Abstract]

Galeazzi, M., Gasbarrini, G., Ghirardello, A., Grandemange, S., Hoffman, H.M., Manna, R., Podswiadek, M., Punzi, L., Sebastiani, G.D., Touitou, I., Doria, A..
Autoinflammatory syndromes.
(2006), Clin Exp Rheumatol : 24(1 Suppl40):S79-S85
[Medline - Abstract]

Rozenbaum M, Touitou I, Portnoy E, Morkos S, Rosner I. .
A molecular basis for the absence of familial Mediterranean fever in Ethiopian Jews.
(2006), Clin Exp Rheumatol. : 24, S127
[Medline - Abstract]

Touitou I, Perez C, Dumont B, Federici L, Jorgensen C. .
Refractory auto-inflammatory syndrome associated with digenic transmission of low-penetrance tumour necrosis factor receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome mutations.
(2006), Ann Rheum Dis. : 65, 1530-1531.
[Medline - Abstract]

Manna R, La Regina M, Nucera G, Gasbarrini G, Touitou I..
FMF revisited
(2004), Eur J Hum Genet. 2004 Feb 11 : 2004 Mar;12(3):255
[Medline - Abstract]

Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C, Shoham N, Aganna E, Hugot JP, Wise C, Waterham H, Pugnere D, Demaille J, Sarrauste de Menthiere C.
Infevers: An evolving mutation database for auto-inflammatory syndromes
(2004), Hum Mutat : 24(3):194-198
[Medline - Abstract]

Touitou I, Notarnicola C, Grandemange S.
Identifying mutations in autoinflammatory diseases : towards novel genetic tests and therapies
(2004), Am J Pharmacogenomics : 4(2):109-18
[Medline - Abstract]

Touitou I..
Diagnostic value of MEFV gene analysis in familial Mediterranean fever must still be assessed in non-classically affected populations
(2004), Arthritis Rheum : 2004 Apr;50(4):1354-1355
[Medline - Abstract]

Altiok, O., Séguret, F., Touitou, I..
MEFV séquence variants and amyloidosis, a still enigmatic question
(2003), Human mutation : 21(1):96-97
[Medline - Abstract]

La Regina, M., Nucera, G., Diaco, M., Procopio, A., Gasbarrini, G., Notarnicola, C., Kone-Paut, I., Touitou, I., Manna, R..
Familial Mediterranean fever is no longer a rare disease in Italy
(2003), European Journal of Human Genetics : Jan;11(1):50-6.
[Medline - Abstract]

Molinari N, Kone-Paut I, Manna R, Demaille J, Daures JP, Touitou I.
Identification of an Autosomal Recessive Mode of Inheritance in Paediatric Behçet's Families by Segregation Analysis
(2003), Am J Med Genet, : Oct 1;122A(2):115-8.
[Medline - Abstract]

Pugnère D and Ruiz M, Sarrauste de Menthière C, Masdoua B, Demaille J, Touitou I.
The MetaFMF website : A high quality tool for meta-analysis of FMF.
(2003), NAR : 31(1):286-90
[Medline - Abstract]

Sarrauste de Menthière C, Terrière S, Pugnère D, Ruiz M, Demaille J, Touitou I.
INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations.
(2003), NAR : 31(1):282-5
[Medline - Abstract]

Solano, P., Mugat, B., Martin, D., Girard, F., Huibant, J.M., Ferraz, C., Jacq, B., Demaille, J., et Maschat, F..
Genomewide identification of in vivo Drosophila engrailed binding fragments and related target genes
(2003), Development : 130, 1243-1254
[Medline - Abstract]

Touitou I, Ben-Chetrit E, Gershoni-Baruch R, Grateau G, Kastner DL, Kone-Paut I, Livneh A, Manna R, Mansour I, Ozdogan H, Ozen S, Sarkisian T, Tunca M, Yalcinkaya F..
Allogenic bone marrow transplantation: not a treatment yet for familial Mediterranean fever.
(2003), Blood : Jul 1;102(1):409.
[Medline - Abstract]

Touitou I..
Standardized testing for mutations in familial Mediterranean fever.
(2003), Clin Chem : Nov;49(11):1781-2.
[Medline - Abstract]

Touitou, I..
Should patients with FMF undergo BMT
(2003), Blood : Feb 1;101(3):1205
[Medline - Abstract]

Dupont, M..
Rapid identification of frequent MLL rearrangements in hematologic malignancies by muiltiplex RT-PCR in a single assay.
(2002), Leukemia : 16,1574-1576.

Dupont, M., Goldsborough, A., Levayer, T., Savare, J., Rey, J.M., Rossi, J.F., Demaille, J. and Lavabre-Bertrand, T..
Multiplex fluorescent reverse-transcriptase polymerase chain reaction to quantify leukemic fusion transcripts.
(2002), Biotechniques : 33(1): 158-60, 162,164.

Kone-Paut I, Gorchakoff-Molinas A, Weschler B, Touitou I.
Paediatric Behçet in France
(2002), Ann Rheum Dis : 61(7), 655-6
[Medline - Abstract]

Notarnicola, C, Didelot, MN, Séguret F, Demaille J, Touitou I.
Enhanced cytokine mRNA levels in attack-free patients with familial Mediterranean fever
(2002), Genes Immun. : Feb;3(1):43-5.
[Medline - Abstract]

Notarnicola, C., Didelot, M.N., Koné-Paut, I., Séguret, F. , Demaille, J., Touitou, I..
Reduced MEFV expression in attack-free patients with familial Mediterranean fever
(2002), Arthritis and Rheumatism : 46(10):2785-93
[Medline - Abstract]

Pugnere, D.; Ruiz, M.; Sarrauste de Menthiere, C.; Touitou, I..
The metaFMF website: a high quality tool for meta-analysis of FMF. [III Int'l Conference on Familial Mediterranean Fever and Hereditary Inflammatory Disorders -Montpellier, 23-27 September 2002- Meeting report]
(2002), Clin Exp Rheumatol. : 20(4 suppl.26),S-95

Sarrauste de Menthiere, C.; Ruiz, M.; Pugnere, D.; Touitou, I..
INFEVERS: the registry for FMF and other hereditary inflammatory disorders mutations. [III Int'l Conference on Familial Mediterranean Fever and Hereditary Inflammatory Disorders -Montpellier, 23-27 September 2002- Meeting report]
(2002), Clin Exp Rheumatol. : 20(4 suppl.26),S-77

Sarrauste de Menthiere, C.; Ruiz, M.; Pugnere, D.; Touitou, I..
INFEVERS: the registry for FMF and other hereditary inflammatory disorders mutations.
(2002)III Int'l Conference on Familial Mediterranean Fever and Hereditary Inflammatory Disorders Montpellier, France. 23-27 September 2002.

Touitou, I..
Diagnostic génétique de la maladie périodique (fièvre méditerranéenne familiale, FMF)
(2002), Pathol Biol (Paris) : Jul;50(6):357-60
[Medline - Abstract]

Cattan D, Dervichian M, Thomas M, Dode C, Touitou I..
MEFV mutations and phenotype-genotype correlations in North African Jews and Armenians with familial Mediterranean fever.
(2001), Isr Med Assoc J. : Nov;3(11):803-4.
[Medline - Abstract]

Notarnicola, C., Manna, R., Rey, J.M., Touitou, I,..
Y688X, the first nonsense mutation in familial Mediterranean fever
(2001), Human mutation : 17(1):79
[Medline - Abstract]

Touitou, I..
The spectrum of familial Mediterranean fever (FMF) mutations: a review
(2001), European Journal of Human Genetics : 9, 473-483
[Medline - Abstract]

Touitou, I., Picot, M.C., Domingo, C., Notarnicola, C., Cattan, D., Demaille, J., Kone-Paut, I..
The MICA region determines the first modifier locus in familial Mediterranean fever
(2001), Arthritis and Rheumatism : Jan;44(1):163-9
[Medline - Abstract]

Cattan, D., Notarnicola, C., Molinari, N. and Touitou, I..
Inflammatory bowel disease in non Ashkenazi-Jews with familial Mediterranean fever
(2000), The Lancet : 355, 378-9
[Medline - Abstract]

Domingo, C., Touitou, I., Bayou, A., Ozen, S., Notarnicola, C., Dewalle, M., Demaille, J., Buades, R., Sayadat, C., Levy, M., and Ben-Chétrit, E..
Familial Mediterranean fever in the Chuetas of Mallorca - a question of Jewish origin or genetic heterogeneity
(2000), Eur. J. Hum. Genet. : 8(4), 242-246
[Medline - Abstract]

Dupont, M., Jourdan, E., Chiesa, J..
Identification of E6A2 BCR/ABL fusion in a Philadelphia-positive CML.
(2000), Leukemia : 14 (11), 2011-2012
[Medline - Abstract]

Koné-Paut, I., Dubuc, M., Sportouch, J., Minodier, P., Garnier, J.M., Touitou, I..
Phenotype Genotype correlation in 91 patients with familial Mediterranean fever (FMF) reveals a high frequency of cutaneomucous features.
(2000), Rheumatology : 39(11):1275-1279
[Medline - Abstract]

Stewart, L., Tolmie, J., Galea, P., Touitou, I.,.
Familial Mediterranean fever in a cold climate
(2000), The Lancet : 356(9248):2154
[Medline - Abstract]

Touitou, I., Magne, X., Molinari, M., Navarro, A., Le Quellec, A., Picco, P., Seri, M., Ozen, S., Bakkaloglu, A., Karaduman, A., Garnier, J.M., Demaille, J., Koné-Paut, I..
MEFV mutations in Behçet's disease
(2000), Human mutation : 16(3):271-272
[Medline - Abstract]

Cazeneuve, C., Dode, C., Delpech, M., Touitou, I., Grateau, G., Amselem, S..
Fiche de synthèse des données scientifiques utiles au conseil génétique de la fièvre méditerranéenne familiale.
(1999), Ann Genet. : 42(4):241-245.
[Medline - Abstract]

Kone-Paut, I., Geisler, I., Wechsler, B., Ozen, S., Ozdogan, H., Rozenbaum, M. and Touitou, I..
High frequency of Behcet disease in siblings and probands of pediatric cases.
(1999), Journal of Pediatrics : 135, 89-93.
[Medline - Abstract]

Touitou, I..
Diagnostic moléculaire de la maladie périodique.
(1999), Gastro-entérologie clinique et biologique : 23, 589-590.
[Medline - Abstract]

Bernot, A., Da Silva, C., Petit, J.L., Cruaud, C., Caloustian, C., Castet, V., Ahmed-Arab, M., Dross, C., Dupont, M., Cattan, D., Smaoui, N., Dode, C., Pecheux, C., Nedelec, B., Medaxian, J., Rozenbaum, M., Rosner, I., Delpech, M., Grateau, G., Demai.
Non-founder mutations in the MEFV gene establish this gene as the cause of Familial Mediterranean Fever (FMF).
(1998), Hum. Mol. Genet. : 7, 1317-1325.
[Medline - Abstract]

Dewalle, M., Domingo, C., Rozenbaum, M., Ben-Chetrit, E., Cattan, D., Bernot, A., Dross, C., Dupont, M., Notarnicola, C., Levy, M., Rosner, I., Demaille, J. and Touitou, I..
Phenotype-genotype correlation in jewish patients suffering from Familial Mediterranean Fever (FMF).
(1998), Eur. J. Hum. Genet. : 6, 95-97.
[Medline - Abstract]

Touitou, I..
Diagnostic génétique de la Fièvre Méditerranéenne Familiale.
(1998), La revue de médecine interne : 7, 486-491.
[Medline - Abstract]

Touitou, I., Ben-Chetrit, E., Notarnicola, C., Domingo, C., Dewalle, M., Dross, C., Dupont, M., Demaille, J., Rosner, I. and Rozenbaum, M..
Familial Mediterranean Fever (FMF) clinical and genetic features in Druzes and Iraqi-jews : a preliminary study.
(1998), J. Rhumato. : 25, 916-919.
[Medline - Abstract]