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Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.
Ichikawa S, Baujat G, Seyahi A, Garoufali AG, Imel EA, Padgett LR, Austin AM, Sorenson AH, Pejin Z, Topouchian V, Quartier P, Cormier-Daire V, Dechaux M, Malandrinou FCh, Singhellakis PN, Le Merrer M, Econs MJ. Ichikawa S, et al. Among authors: quartier p. Am J Med Genet A. 2010 Apr;152A(4):896-903. doi: 10.1002/ajmg.a.33337. Am J Med Genet A. 2010. PMID: 20358599 Free PMC article.
The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability.
Mehawej C, Courcet JB, Baujat G, Mouy R, Gérard M, Landru I, Gosselin M, Koehrer P, Mousson C, Breton S, Quartier P, Le Merrer M, Faivre L, Cormier-Daire V. Mehawej C, et al. Among authors: quartier p. Am J Med Genet A. 2013 Dec;161A(12):3023-9. doi: 10.1002/ajmg.a.36151. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 23956186
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.
Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, Teillac-Hamel D, Fischer A, de Saint Basile G. Feldmann J, et al. Among authors: quartier p. Am J Hum Genet. 2002 Jul;71(1):198-203. doi: 10.1086/341357. Epub 2002 May 24. Am J Hum Genet. 2002. PMID: 12032915 Free PMC article.
[New treatments for idiopathic juvenile arthritis].
Bader-Meunier B, Quartier P. Bader-Meunier B, et al. Among authors: quartier p. Arch Pediatr. 2009 Dec;16(12):1607-11. doi: 10.1016/j.arcped.2009.07.020. Epub 2009 Nov 5. Arch Pediatr. 2009. PMID: 19896351 French.
Etanercept concentration and immunogenicity do not influence the response to Etanercept in patients with juvenile idiopathic arthritis.
Bader-Meunier B, Krzysiek R, Lemelle I, Pajot C, Carbasse A, Poignant S, Melki I, Quartier P, Choupeaux L, Henry E, Treluyer JM, Belot A, Hacein-Bey-Abina S, Urien S. Bader-Meunier B, et al. Among authors: quartier p. Semin Arthritis Rheum. 2019 Jun;48(6):1014-1018. doi: 10.1016/j.semarthrit.2018.09.002. Epub 2018 Sep 17. Semin Arthritis Rheum. 2019. PMID: 30396593
290 results