C. Rittore

发表

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

M. Barat‐Houari, I. Touitou, M. McDermott, 2013, Annals of the rheumatic diseases.

An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvement

J. Yagüe, I. Touitou, C. Rittore, 2009, European Journal of Human Genetics.

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

I. Touitou, E. Hachulla, A. Belot, 2019, Journal of clinical medicine.

PSMB10, the last immunoproteasome gene missing for PRAAS.

Y. Crow, I. Touitou, D. Duffy, 2019, The Journal of allergy and clinical immunology.

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.

I. Touitou, C. Rittore, S. Soler, 2011, Clinica chimica acta; international journal of clinical chemistry.

Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnancies

I. Touitou, J. Gondry, P. Bolze, 2020, Journal of Assisted Reproduction and Genetics.

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

I. Touitou, J. Gottenberg, D. Wendling, 2019, The Pharmacogenomics Journal.

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

I. Touitou, Y. Pers, C. Rittore, 2014, Joint, bone, spine : revue du rhumatisme.

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

I. Touitou, J. Pène, C. Rittore, 2017, Molecular genetics & genomic medicine.

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

I. Touitou, M. Gribaa, C. Rittore, 2012, Archives of pathology & laboratory medicine.

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

I. Touitou, M. Gribaa, C. Rittore, 2011, International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists.

The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients

T. Dudding-Byth, T. Sahoo, R. Slim, 2018, Modern Pathology.

Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases.

I. Touitou, C. Rittore, G. Sarrabay, 2020, The Journal of investigative dermatology.

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.

Colin A. Johnson, D. Bonthron, G. Taylor, 2011, American journal of human genetics.

NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage

N. M. Lau, U. Surti, J. Engert, 2011, Journal of Medical Genetics.

Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus

I. Touitou, F. Milhavet, R. Slim, 2022, Human mutation.

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

I. Touitou, C. Bénéteau, F. Golfier, 2011, European journal of obstetrics, gynecology, and reproductive biology.

Homozygous NLRP7 mutations in a Moroccan woman with recurrent reproductive failure

P. Benos, I. Touitou, G. Lefort, 2009, Clinical Genetics.

TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS

I. Touitou, A. Mallavialle, F. Apparailly, 2021, Scientific Reports.

Combined Mutation And Rearrangement Screening by Quantitative PCR High-Resolution Melting: Is It Relevant for Hereditary Recurrent Fever Genes?

A. Fabre, I. Touitou, L. Cuisset, 2010, PloS one.

Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype Correlation

I. Touitou, F. Milhavet, L. Cuisset, 2021, Journal of clinical medicine.

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

I. Touitou, Y. Pers, M. Rodière, 2017, Joint, bone, spine : revue du rhumatisme.

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

J. Daurès, I. Touitou, C. Rittore, 2012, Joint, bone, spine : revue du rhumatisme.

Predictive Clinical and Biological Criteria for Gene Panel Positivity in Suspected Inherited Autoinflammatory Diseases: Insights from a Case–Control Study

C. Rittore, G. Boursier, Isabelle Touitou, 2023, Genes.