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268 results

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Page 1
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
MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.
D'Osualdo A, Picco P, Caroli F, Gattorno M, Giacchino R, Fortini P, Corona F, Tommasini A, Salvi G, Specchia F, Obici L, Meini A, Ricci A, Seri M, Ravazzolo R, Martini A, Ceccherini I. D'Osualdo A, et al. Among authors: ceccherini i. Eur J Hum Genet. 2005 Mar;13(3):314-20. doi: 10.1038/sj.ejhg.5201323. Eur J Hum Genet. 2005. PMID: 15536479
Clinical and genetic characterization of Italian patients affected by CINCA syndrome.
Caroli F, Pontillo A, D'Osualdo A, Travan L, Ceccherini I, Crovella S, Alessio M, Stabile A, Gattorno M, Tommasini A, Martini A, Lepore L. Caroli F, et al. Among authors: ceccherini i. Rheumatology (Oxford). 2007 Mar;46(3):473-8. doi: 10.1093/rheumatology/kel269. Epub 2006 Aug 18. Rheumatology (Oxford). 2007. PMID: 16920754
A novel mutation in the GFAP gene in a familial adult onset Alexander disease.
Salmaggi A, Botturi A, Lamperti E, Grisoli M, Fischetto R, Ceccherini I, Caroli F, Boiardi A. Salmaggi A, et al. Among authors: ceccherini i. J Neurol. 2007 Sep;254(9):1278-80. doi: 10.1007/s00415-006-0361-2. Epub 2007 Aug 16. J Neurol. 2007. PMID: 17703343 No abstract available.
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.
Caroli F, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M. Caroli F, et al. Among authors: ceccherini i. Clin Genet. 2007 Nov;72(5):427-33. doi: 10.1111/j.1399-0004.2007.00869.x. Epub 2007 Sep 25. Clin Genet. 2007. PMID: 17894839
Adult-onset Alexander disease : report on a family.
Balbi P, Seri M, Ceccherini I, Uggetti C, Casale R, Fundarò C, Caroli F, Santoro L. Balbi P, et al. Among authors: ceccherini i. J Neurol. 2008 Jan;255(1):24-30. doi: 10.1007/s00415-007-0654-0. Epub 2007 Nov 21. J Neurol. 2008. PMID: 18004641
Uncommon association of germline mutations of RET proto-oncogene and CDKN2A gene.
Foppiani L, Forzano F, Ceccherini I, Bruno W, Ghiorzo P, Caroli F, Quilici P, Bandelloni R, Arlandini A, Sartini G, Cabria M, Del Monte P. Foppiani L, et al. Among authors: ceccherini i. Eur J Endocrinol. 2008 Mar;158(3):417-22. doi: 10.1530/EJE-07-0608. Eur J Endocrinol. 2008. PMID: 18299477
A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children.
Gattorno M, Sormani MP, D'Osualdo A, Pelagatti MA, Caroli F, Federici S, Cecconi M, Solari N, Meini A, Zulian F, Obici L, Breda L, Martino S, Tommasini A, Bossi G, Govers A, Touitou I, Woo P, Frenkel J, Koné-Paut I, Baldi M, Ceccherini I, Martini A. Gattorno M, et al. Among authors: ceccherini i. Arthritis Rheum. 2008 Jun;58(6):1823-32. doi: 10.1002/art.23474. Arthritis Rheum. 2008. PMID: 18512793 Free article.
268 results