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Page 1
Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core.
Amico G, Hemphill WO, Severino M, Moratti C, Pascarella R, Bertamino M, Napoli F, Volpi S, Rosamilia F, Signa S, Perrino F, Zedde M, Ceccherini I, On Behalf Of The Gaslini Stroke Study Group. Amico G, et al. Among authors: ceccherini i. Genes (Basel). 2022 Jun 30;13(7):1179. doi: 10.3390/genes13071179. Genes (Basel). 2022. PMID: 35885962 Free PMC article.
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, Gallizzi R, Cimmino M, Signa S, Lucherini OM, Carta S, Caroli F, Martini A, Rubartelli A, Ceccherini I, Gattorno M. Naselli A, et al. Among authors: ceccherini i. J Rheumatol. 2016 Jun;43(6):1093-100. doi: 10.3899/jrheum.150962. Epub 2016 Apr 1. J Rheumatol. 2016. PMID: 27036377
Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.
Di Rocco M, Rusmini M, Caroli F, Madeo A, Bertamino M, Marre-Brunenghi G, Ceccherini I. Di Rocco M, et al. Among authors: ceccherini i. Clin Genet. 2018 Mar;93(3):671-674. doi: 10.1111/cge.13134. Epub 2018 Jan 12. Clin Genet. 2018. PMID: 28892125
Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.
Lasigliè D, Mensa-Vilaro A, Ferrera D, Caorsi R, Penco F, Santamaria G, Di Duca M, Amico G, Nakagawa K, Antonini F, Tommasini A, Consolini R, Insalaco A, Cattalini M, Obici L, Gallizzi R, Santarelli F, Del Zotto G, Severino M, Rubartelli A, Ravazzolo R, Martini A, Ceccherini I, Nishikomori R, Gattorno M, Arostegui JI, Borghini S. Lasigliè D, et al. Among authors: ceccherini i. J Rheumatol. 2017 Nov;44(11):1667-1673. doi: 10.3899/jrheum.170041. Epub 2017 Sep 15. J Rheumatol. 2017. PMID: 28916543
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. Caorsi R, et al. Among authors: ceccherini i. Front Immunol. 2018 Jan 29;8:2015. doi: 10.3389/fimmu.2017.02015. eCollection 2017. Front Immunol. 2018. PMID: 29434583 Free PMC article.
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum.
Bertamino M, Severino M, Grossi A, Rusmini M, Tortora D, Gandolfo C, Pederzoli S, Malattia C, Picco P, Striano P, Ceccherini I, Di Rocco M; Gaslini Pediatric Stroke Group. Bertamino M, et al. Among authors: ceccherini i. Eur J Paediatr Neurol. 2018 Jul;22(4):725-728. doi: 10.1016/j.ejpn.2018.04.002. Epub 2018 Apr 12. Eur J Paediatr Neurol. 2018. PMID: 29709427
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. Signa S, et al. Among authors: ceccherini i. Pediatr Rheumatol Online J. 2019 Jul 8;17(1):38. doi: 10.1186/s12969-019-0336-3. Pediatr Rheumatol Online J. 2019. PMID: 31286971 Free PMC article.
Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.
Papa R, Rusmini M, Volpi S, Caorsi R, Picco P, Grossi A, Caroli F, Bovis F, Musso V, Obici L, Castana C, Ravelli A, Van Gijn ME, Ceccherini I, Gattorno M. Papa R, et al. Among authors: ceccherini i. Rheumatology (Oxford). 2020 Feb 1;59(2):344-360. doi: 10.1093/rheumatology/kez270. Rheumatology (Oxford). 2020. PMID: 31325311
Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.
Papa R, Rusmini M, Volpi S, Caorsi R, Picco P, Grossi A, Caroli F, Bovis F, Musso V, Obici L, Castana C, Ravelli A, Van Gijn ME, Ceccherini I, Gattorno M. Papa R, et al. Among authors: ceccherini i. Rheumatology (Oxford). 2020 Feb 1;59(2):458. doi: 10.1093/rheumatology/kez376. Rheumatology (Oxford). 2020. PMID: 31410474 No abstract available.
265 results