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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 2
2007 1
2008 3
2009 3
2010 4
2011 1
2012 2
2013 3
2014 2
2015 2
2016 2
2017 2
2018 3
2019 2
2020 6
2021 6
2022 2
2023 5
2024 1

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49 results

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Page 1
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
Cananzi M, Wohler E, Marzollo A, Colavito D, You J, Jing H, Bresolin S, Gaio P, Martin R, Mescoli C, Bade S, Posey JE, Dalle Carbonare M, Tung W, Jhangiani SN, Bosa L, Zhang Y, Filho JS, Gabelli M, Kellermayer R, Kader HA, Oliva-Hemker M, Perilongo G, Lupski JR, Biffi A, Valle D, Leon A, de Macena Sobreira NL, Su HC, Guerrerio AL. Cananzi M, et al. Among authors: colavito d. Hum Genet. 2021 Sep;140(9):1299-1312. doi: 10.1007/s00439-021-02300-4. Epub 2021 Jun 29. Hum Genet. 2021. PMID: 34185153 Free PMC article. Clinical Trial.
IRF2BPL: A new genotype for progressive myoclonus epilepsies.
Costa C, Oliver KL, Calvello C, Cameron JM, Imperatore V, Tonelli L, Colavito D, Franceschetti S, Canafoglia L, Berkovic SF, Prontera P. Costa C, et al. Among authors: colavito d. Epilepsia. 2023 Aug;64(8):e164-e169. doi: 10.1111/epi.17557. Epub 2023 Mar 9. Epilepsia. 2023. PMID: 36810721
NFIA haploinsufficiency: case series and literature review.
Dini G, Verrotti A, Gorello P, Soliani L, Cordelli DM, Antona V, Mencarelli A, Colavito D, Prontera P. Dini G, et al. Among authors: colavito d. Front Pediatr. 2023 Oct 17;11:1292654. doi: 10.3389/fped.2023.1292654. eCollection 2023. Front Pediatr. 2023. PMID: 37915986 Free PMC article.
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, Anderson M, Spadafore D, Hunt D, Møller RS, Rubboli G; PURA study group. Johannesen KM, et al. Among authors: colavito d. Neurol Genet. 2021 Nov 15;7(6):e613. doi: 10.1212/NXG.0000000000000613. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34790866 Free PMC article.
A novel homozygous mutation in TBK1 gene causing ALS-FTD.
Libonati L, Ceccanti M, Cambieri C, Colavito D, Moret F, Fiorini I, Inghilleri M. Libonati L, et al. Among authors: colavito d. Neurol Sci. 2022 Mar;43(3):2101-2104. doi: 10.1007/s10072-021-05820-z. Epub 2022 Jan 14. Neurol Sci. 2022. PMID: 35028775 No abstract available.
Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease.
Bosa L, Batura V, Colavito D, Fiedler K, Gaio P, Guo C, Li Q, Marzollo A, Mescoli C, Nambu R, Pan J, Perilongo G, Warner N, Zhang S, Kotlarz D, Klein C, Snapper SB, Walters TD, Leon A, Griffiths AM, Cananzi M, Muise AM. Bosa L, et al. Among authors: colavito d. Sci Rep. 2021 Mar 15;11(1):5945. doi: 10.1038/s41598-021-85399-9. Sci Rep. 2021. PMID: 33723309 Free PMC article.
Multiple melanomas in ichthyosis with confetti: One more piece of evidence.
Aromolo IF, Moltrasio C, Cozzaglio L, Colavito D, Leon A, Cavalli R, Tadini G, Brena M. Aromolo IF, et al. Among authors: colavito d. Australas J Dermatol. 2023 Nov;64(4):576-578. doi: 10.1111/ajd.14143. Epub 2023 Aug 14. Australas J Dermatol. 2023. PMID: 37577813 No abstract available.
49 results