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New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.
Dodé C, Le Dû N, Cuisset L, Letourneur F, Berthelot JM, Vaudour G, Meyrier A, Watts RA, Scott DG, Nicholls A, Granel B, Frances C, Garcier F, Edery P, Boulinguez S, Domergues JP, Delpech M, Grateau G. Dodé C, et al. Among authors: berthelot jm. Am J Hum Genet. 2002 Jun;70(6):1498-506. doi: 10.1086/340786. Epub 2002 Apr 25. Am J Hum Genet. 2002. PMID: 11992256 Free PMC article.
Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44.
Cuisset L, Drenth JP, Berthelot JM, Meyrier A, Vaudour G, Watts RA, Scott DG, Nicholls A, Pavek S, Vasseur C, Beckmann JS, Delpech M, Grateau G. Cuisset L, et al. Among authors: berthelot jm. Am J Hum Genet. 1999 Oct;65(4):1054-9. doi: 10.1086/302589. Am J Hum Genet. 1999. PMID: 10486324 Free PMC article.
Musculoskeletal symptoms in patients with cryopyrin-associated periodic syndromes: a large database study.
Houx L, Hachulla E, Kone-Paut I, Quartier P, Touitou I, Guennoc X, Grateau G, Hamidou M, Neven B, Berthelot JM, Lequerré T, Pillet P, Lemelle I, Fischbach M, Duquesne A, Le Blay P, Le Jeunne C, Stirnemann J, Bonnet C, Gaillard D, Alix L, Touraine R, Garcier F, Bedane C, Jurquet AL, Duffau P, Smail A, Frances C, Grall-Lerosey M, Cathebras P, Tran TA, Morell-Dubois S, Pagnier A, Richez C, Cuisset L, Devauchelle-Pensec V. Houx L, et al. Among authors: berthelot jm. Arthritis Rheumatol. 2015 Nov;67(11):3027-36. doi: 10.1002/art.39292. Arthritis Rheumatol. 2015. PMID: 26245507
Radionuclide exploration of dialysis amyloidosis: preliminary experience.
Grateau G, Zingraff J, Fauchet M, Mundler O, Raymond P, Berthelot JM, Bardin T, Kuntz D, Drüeke T. Grateau G, et al. Among authors: berthelot jm. Am J Kidney Dis. 1988 Mar;11(3):231-7. doi: 10.1016/s0272-6386(88)80155-0. Am J Kidney Dis. 1988. PMID: 3344746
Phenotypic diversity is not determined by independent genetic factors in familial spondylarthropathy.
Said-Nahal R, Miceli-Richard C, D'Agostino MA, Dernis-Labous E, Berthelot JM, Duché A, Le Blévec G, Saraux A, Perdriger A, Guis S, Amor B, Dougados M, Breban M; Groupe Français d'Etude Génétique des Spondylarthropathies. Said-Nahal R, et al. Among authors: berthelot jm. Arthritis Rheum. 2001 Dec;45(6):478-84. doi: 10.1002/1529-0131(200112)45:6<478::aid-art372>3.0.co;2-i. Arthritis Rheum. 2001. PMID: 11762681 Free article.
335 results