Rittore C - Search Results

1

PSMB10, the last immunoproteasome gene missing for PRAAS.

Sarrabay G, Méchin D, Salhi A, Boursier G, Rittore C, Crow Y, Rice G, Tran TA, Cezar R, Duffy D, Bondet V, Boudhane L, Broca C, Kant BP, VanGijn M, Grandemange S, Richard E, Apparailly F, Touitou I. Sarrabay G, et al. Among authors: rittore c. J Allergy Clin Immunol. 2020 Mar;145(3):1015-1017.e6. doi: 10.1016/j.jaci.2019.11.024. Epub 2019 Nov 26. J Allergy Clin Immunol. 2020. PMID: 31783057 No abstract available.

2

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.

Soler S, Rittore C, Touitou I, Philibert L. Soler S, et al. Among authors: rittore c. Clin Chim Acta. 2011 Feb 20;412(5-6):430-4. doi: 10.1016/j.cca.2010.11.012. Epub 2010 Nov 19. Clin Chim Acta. 2011. PMID: 21094154

3

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

Rittore C, Sanchez E, Soler S, Barat-Houari M, Albers M, Obici L, McDermott MF, Touitou I, Grandemange S. Rittore C, et al. Ann Rheum Dis. 2014 Jan;73(1):290-7. doi: 10.1136/annrheumdis-2012-203023. Epub 2013 Mar 16. Ann Rheum Dis. 2014. PMID: 23505244 Free article.

4

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. Grandemange S, et al. Among authors: rittore c. Mol Genet Genomic Med. 2017 Jan 14;5(2):110-116. doi: 10.1002/mgg3.229. eCollection 2017 Mar. Mol Genet Genomic Med. 2017. PMID: 28361096 Free PMC article.

5

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

Luxembourger C, Ruyssen-Witrand A, Ladhari C, Rittore C, Degboe Y, Maillefert JF, Gaudin P, Marotte H, Wendling D, Jorgensen C, Cantagrel A, Constantin A, Nigon D, Touitou I, Gottenberg JE, Pers YM. Luxembourger C, et al. Among authors: rittore c. Pharmacogenomics J. 2019 Aug;19(4):368-374. doi: 10.1038/s41397-019-0072-6. Epub 2019 Jan 16. Pharmacogenomics J. 2019. PMID: 30647443

6

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

Boursier G, Rittore C, Georgin-Lavialle S, Belot A, Galeotti C, Hachulla E, Hentgen V, Rossi-Semerano L, Sarrabay G, Touitou I. Boursier G, et al. Among authors: rittore c. J Clin Med. 2019 Oct 18;8(10):1729. doi: 10.3390/jcm8101729. J Clin Med. 2019. PMID: 31635385 Free PMC article.

7

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

Boursier G, Piram M, Rittore C, Sarrabay G, Touitou I. Boursier G, et al. Among authors: rittore c. J Invest Dermatol. 2021 May;141(5):1141-1147. doi: 10.1016/j.jid.2020.08.028. Epub 2020 Nov 18. J Invest Dermatol. 2021. PMID: 33218716 Free article. Review.

8

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

Rittore C, Méchin D, Sanchez E, Marinèche L, Ea V, Soler S, Vereecke M, Mallavialle A, Richard E, Duroux-Richard I, Apparailly F, Touitou I, Grandemange S. Rittore C, et al. Sci Rep. 2021 Feb 18;11(1):4172. doi: 10.1038/s41598-021-83539-9. Sci Rep. 2021. PMID: 33603056 Free PMC article.

9

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

Boursier G, Rittore C, Milhavet F, Cuisset L, Touitou I. Boursier G, et al. Among authors: rittore c. J Clin Med. 2021 Apr 7;10(8):1552. doi: 10.3390/jcm10081552. J Clin Med. 2021. PMID: 33917151 Free PMC article.

10

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

Slim R, Fisher R, Milhavet F, Hemida R, Rojas S, Rittore C, Bagga R, Aguinaga M, Touitou I. Slim R, et al. Among authors: rittore c. Hum Mutat. 2022 Dec;43(12):1732-1744. doi: 10.1002/humu.24439. Epub 2022 Jul 23. Hum Mutat. 2022. PMID: 35842788 Review.

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