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Items: 8

1.

Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumab.

Signa S, Campione E, Rusmini M, Chiesa S, Grossi A, Omenetti A, Caorsi R, Viglizzo GM, Galluzzo M, Bianchi L, Talamonti M, Orlandi A, Martini A, Ceccherini I, Gattorno M.

Pediatr Rheumatol Online J. 2019 Jul 8;17(1):38. doi: 10.1186/s12969-019-0336-3.

2.

Adverse events linked with the use of chimeric and humanized anti-CD20 antibodies in children with idiopathic nephrotic syndrome.

Bonanni A, Calatroni M, D'Alessandro M, Signa S, Bertelli E, Cioni M, Di Marco E, Biassoni R, Caridi G, Ingrasciotta G, Bertelli R, Di Donato A, Bruschi M, Canepa A, Piaggio G, Ravani P, Ghiggeri GM.

Br J Clin Pharmacol. 2018 Jun;84(6):1238-1249. doi: 10.1111/bcp.13548. Epub 2018 Mar 25.

3.

CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever.

Caorsi R, Rusmini M, Volpi S, Chiesa S, Pastorino C, Sementa AR, Uva P, Grossi A, Lanino E, Faraci M, Minoia F, Signa S, Picco P, Martini A, Ceccherini I, Gattorno M.

Front Immunol. 2018 Jan 29;8:2015. doi: 10.3389/fimmu.2017.02015. eCollection 2017.

4.

Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications.

Ombrello MJ, Arthur VL, Remmers EF, Hinks A, Tachmazidou I, Grom AA, Foell D, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Ilowite NT, Mellins ED, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg AM, Wedderburn LR, Anton J, Haas JP, Rosen-Wolff A, Minden K, Tenbrock K, Demirkaya E, Cobb J, Baskin E, Signa S, Shuldiner E, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A; British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group, Inception Cohort of Newly Diagnosed Patients with Juvenile Idiopathic Arthritis (ICON-JIA) Study Group, Childhood Arthritis Prospective Study (CAPS) Group, Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators, Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group, Biologically Based Outcome Predictors in JIA (BBOP) Group, Langefeld CD, Thompson S, Zeggini E, Kastner DL, Woo P, Thomson W.

Ann Rheum Dis. 2017 May;76(5):906-913. doi: 10.1136/annrheumdis-2016-210324. Epub 2016 Dec 7.

5.

Long-term use of pegfilgrastim in children with severe congenital neutropenia: clinical and pharmacokinetic data.

Fioredda F, Lanza T, Gallicola F, Riccardi F, Lanciotti M, Mastrodicasa E, Signa S, Zanardi S, Calvillo M, Dufour C.

Blood. 2016 Oct 27;128(17):2178-2181. Epub 2016 Sep 12. No abstract available.

6.

Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study.

Naselli A, Penco F, Cantarini L, Insalaco A, Alessio M, Tommasini A, Maggio C, Obici L, Gallizi R, Cimmino M, Signa S, Lucherini OM, Carta S, Caroli F, Martini A, Rubartelli A, Ceccherini I, Gattorno M.

J Rheumatol. 2016 Jun;43(6):1093-100. doi: 10.3899/jrheum.150962. Epub 2016 Apr 1.

PMID:
27036377
7.

HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis.

Ombrello MJ, Remmers EF, Tachmazidou I, Grom A, Foell D, Haas JP, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Mellins ED, Ilowite NT, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg A, Wedderburn LR, Anton J, Schwarz T, Hinks A, Bilginer Y, Park J, Cobb J, Satorius CL, Han B, Baskin E, Signa S, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A; British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group; Childhood Arthritis Prospective Study (CAPS) Group; Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators; Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group; Biologically Based Outcome Predictors in JIA (BBOP) Group, de Bakker PI, Raychaudhuri S, Langefeld CD, Thompson S, Zeggini E, Thomson W, Kastner DL, Woo P; International Childhood Arthritis Genetics (INCHARGE) Consortium.

Proc Natl Acad Sci U S A. 2015 Dec 29;112(52):15970-5. doi: 10.1073/pnas.1520779112. Epub 2015 Nov 23.

8.

De novo 13q31.1-q32.1 interstitial deletion encompassing the miR-17-92 cluster in a patient with Feingold syndrome-2.

Tassano E, Di Rocco M, Signa S, Gimelli G.

Am J Med Genet A. 2013 Apr;161A(4):894-6. doi: 10.1002/ajmg.a.35781. Epub 2013 Mar 12. No abstract available.

PMID:
23495052

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