30 results on '"Rittore, Cécile"'
Search Results
2. TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS
3. The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients
4. A single nucleotide polymorphism of IL6-receptor is associated with response to tocilizumab in rheumatoid arthritis patients
5. Predictive Clinical and Biological Criteria for Gene Panel Positivity in Suspected Inherited Autoinflammatory Diseases: Insights from a Case–Control Study
6. Association of TRAF1-C5 with risk of uveitis in juvenile idiopathic arthritis
7. 07.16 Nlrp1 mutations cause autoinflammatory diseases in human: implication of the nlrp1 inflammasome?
8. TGF beta1 polymorphisms are candidate predictors of the clinical response to rituximab in rheumatoid arthritis
9. Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus
10. The spectrum of NLRP7 mutations in French patients with recurrent hydatidiform mole
11. 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
12. PSMB10, the last immunoproteasome gene missing for PRAAS
13. Genetic markers in clinical subtypes of juvenile idiopathic arthritis
14. Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype Correlation
15. Identification of a new exon 2-skipped TNFR1 transcript: regulation by three functional polymorphisms of the TNFR-associated periodic syndrome (TRAPS) gene
16. Clinical Medicine Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases
17. Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases
18. Phenotypic Associations of PSTPIP1Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases
19. 07.16 Nlrp1 mutations cause autoinflammatory diseases in human: implication of the nlrp1 inflammasome?
20. TNFRII polymorphism is associated with response to TNF blockers in rheumatoid arthritis patients seronegative for ACPA
21. Le polymorphisme du TNFRII est associé à la réponse aux anti-TNFα dans la polyarthrite rhumatoïde chez les patients sans anticorps anti-CCP
22. Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA‐like phenotype
23. Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte
24. Identification of a new exon 2-skipped TNFR1 transcript: regulation by three functional polymorphisms of the TNFR-associated periodic syndrome (TRAPS) gene
25. NLRP7 Mutation Analysis in Sporadic Hydatidiform Moles in Tunisian Patients: NLRP7 and Sporadic Mole
26. Screening for NLRP7 Mutations in Familial and Sporadic Recurrent Hydatidiform Moles
27. 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
28. Combined Mutation And Rearrangement Screening by Quantitative PCR High-Resolution Melting: Is It Relevant for Hereditary Recurrent Fever Genes?
29. Screening for NLRP7Mutations in Familial and Sporadic Recurrent Hydatidiform Moles
30. Genetic markers in clinical subtypes of juvenile idiopathic arthritis.
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