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492 results

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Page 1
FAS-mediated apoptosis impairment in patients with ALPS/ALPS-like phenotype carrying variants on CASP10 gene.
Miano M, Cappelli E, Pezzulla A, Venè R, Grossi A, Terranova P, Palmisani E, Maggiore R, Guardo D, Lanza T, Calvillo M, Micalizzi C, Pierri F, Vernarecci C, Beccaria A, Corsolini F, Lanciotti M, Russo G, Ceccherini I, Dufour C, Fioredda F. Miano M, et al. Among authors: grossi a. Br J Haematol. 2019 Nov;187(4):502-508. doi: 10.1111/bjh.16098. Epub 2019 Jul 15. Br J Haematol. 2019. PMID: 31309545 Free article.
Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases.
Marzano AV, Ceccherini I, Gattorno M, Fanoni D, Caroli F, Rusmini M, Grossi A, De Simone C, Borghi OM, Meroni PL, Crosti C, Cugno M. Marzano AV, et al. Among authors: grossi a. Medicine (Baltimore). 2014 Dec;93(27):e187. doi: 10.1097/MD.0000000000000187. Medicine (Baltimore). 2014. PMID: 25501066 Free PMC article.
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.
Rusmini M, Federici S, Caroli F, Grossi A, Baldi M, Obici L, Insalaco A, Tommasini A, Caorsi R, Gallo E, Olivieri AN, Marzano A, Coviello D, Ravazzolo R, Martini A, Gattorno M, Ceccherini I. Rusmini M, et al. Among authors: grossi a. Ann Rheum Dis. 2016 Aug;75(8):1550-7. doi: 10.1136/annrheumdis-2015-207701. Epub 2015 Sep 17. Ann Rheum Dis. 2016. PMID: 26386126
RAG deficiency with ALPS features successfully treated with TCRαβ/CD19 cell depleted haploidentical stem cell transplant.
Westermann-Clark E, Grossi A, Fioredda F, Giardino S, Cappelli E, Terranova P, Palmisani E, Farmer JR, Foldvari Z, Yamazaki Y, Faraci M, Lanino E, Notarangelo LD, Dufour C, Ceccherini I, Walter JE, Miano M. Westermann-Clark E, et al. Among authors: grossi a. Clin Immunol. 2018 Feb;187:102-103. doi: 10.1016/j.clim.2017.10.012. Epub 2017 Nov 20. Clin Immunol. 2018. PMID: 29104089 Free PMC article. No abstract available.
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: grossi a. 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: grossi a. 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
ADA2 deficiency due to a novel structural variation in 22q11.1.
Grossi A, Cusano R, Rusmini M, Penco F, Schena F, Podda RA, Caorsi R, Gattorno M, Uva P, Ceccherini I. Grossi A, et al. Clin Genet. 2019 Jun;95(6):732-733. doi: 10.1111/cge.13518. Epub 2019 Mar 28. Clin Genet. 2019. PMID: 30920658 No abstract available.
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: grossi a. 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: grossi a. Rheumatology (Oxford). 2020 Feb 1;59(2):344-360. doi: 10.1093/rheumatology/kez270. Rheumatology (Oxford). 2020. PMID: 31325311
492 results