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Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder.
Caporali L, Fiorini C, Palombo F, Romagnoli M, Baccari F, Zenesini C, Visconti P, Posar A, Scaduto MC, Ormanbekova D, Battaglia A, Tancredi R, Cameli C, Viggiano M, Olivieri A, Torroni A, Maestrini E, Rochat MJ, Bacchelli E, Carelli V, Maresca A. Caporali L, et al. Among authors: palombo f. Front Genet. 2022 Nov 7;13:953762. doi: 10.3389/fgene.2022.953762. eCollection 2022. Front Genet. 2022. PMID: 36419830 Free PMC article.
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10.
Fiorini C, Ormanbekova D, Palombo F, Carbonelli M, Amore G, Romagnoli M, d'Agati P, Valentino ML, Barboni P, Cascavilla ML, De Negri A, Sadun F, Carta A, Testa F, Petruzzella V, Guerriero S, Bianchi Marzoli S, Carelli V, La Morgia C, Caporali L. Fiorini C, et al. Among authors: palombo f. Brain. 2023 Sep 1;146(9):e67-e70. doi: 10.1093/brain/awad080. Brain. 2023. PMID: 36913248 Free PMC article. No abstract available.
Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental Disorder.
Pietra A, Palombo F, Giannotta M, Maffei M, Fiorini C, Costa R, Cenacchi G, Carelli V, Cordelli DM, Pini A, Garone C. Pietra A, et al. Among authors: palombo f. Neurol Genet. 2023 Nov 14;9(6):e200098. doi: 10.1212/NXG.0000000000200098. eCollection 2023 Dec. Neurol Genet. 2023. PMID: 38235043 Free PMC article.
AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype Characterization Compared to OPA1 Patients.
Amore G, Romagnoli M, Carbonelli M, Cascavilla ML, De Negri AM, Carta A, Parisi V, Di Renzo A, Schiavi C, Lenzetti C, Zenesini C, Ormanbekova D, Palombo F, Fiorini C, Caporali L, Carelli V, Barboni P, La Morgia C. Amore G, et al. Among authors: palombo f. Am J Ophthalmol. 2024 Jan 24;262:114-124. doi: 10.1016/j.ajo.2024.01.011. Online ahead of print. Am J Ophthalmol. 2024. PMID: 38278202 Free article.
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Brugger M, Lauri A, Zhen Y, Gramegna LL, Zott B, Sekulić N, Fasano G, Kopajtich R, Cordeddu V, Radio FC, Mancini C, Pizzi S, Paradisi G, Zanni G, Vasco G, Carrozzo R, Palombo F, Tonon C, Lodi R, La Morgia C, Arelin M, Blechschmidt C, Finck T, Sørensen V, Kreiser K, Strobl-Wildemann G, Daum H, Michaelson-Cohen R, Ziccardi L, Zampino G, Prokisch H, Abou Jamra R, Fiorini C, Arzberger T, Winkelmann J, Caporali L, Carelli V, Stenmark H, Tartaglia M, Wagner M. Brugger M, et al. Among authors: palombo f. Am J Hum Genet. 2024 Mar 7;111(3):594-613. doi: 10.1016/j.ajhg.2024.02.005. Epub 2024 Feb 28. Am J Hum Genet. 2024. PMID: 38423010 Free PMC article.
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Marconi C, Pecci A, Palombo F, Melazzini F, Bottega R, Nardi E, Bozzi V, Faleschini M, Barozzi S, Giangregorio T, Magini P, Balduini CL, Savoia A, Seri M, Noris P, Pippucci T. Marconi C, et al. Among authors: palombo f. Haematologica. 2023 Jul 1;108(7):1909-1919. doi: 10.3324/haematol.2022.280993. Haematologica. 2023. PMID: 36519321 Free PMC article.
Search for Evidence of Baryogenesis and Dark Matter in B^{+}→ψ_{D}+p Decays at BABAR.
Lees JP, Poireau V, Tisserand V, Grauges E, Palano A, Eigen G, Brown DN, Kolomensky YG, Fritsch M, Koch H, Cheaib R, Hearty C, Mattison TS, McKenna JA, So RY, Blinov VE, Buzykaev AR, Druzhinin VP, Kozyrev EA, Kravchenko EA, Serednyakov SI, Skovpen YI, Solodov EP, Todyshev KY, Lankford AJ, Dey B, Gary JW, Long O, Eisner AM, Lockman WS, Panduro Vazquez W, Chao DS, Cheng CH, Echenard B, Flood KT, Hitlin DG, Li Y, Lin DX, Middleton S, Miyashita TS, Ongmongkolkul P, Oyang J, Porter FC, Röhrken M, Meadows BT, Sokoloff MD, Smith JG, Wagner SR, Bernard D, Verderi M, Bettoni D, Bozzi C, Calabrese R, Cibinetto G, Fioravanti E, Garzia I, Luppi E, Santoro V, Calcaterra A, de Sangro R, Finocchiaro G, Martellotti S, Patteri P, Peruzzi IM, Piccolo M, Rotondo M, Zallo A, Passaggio S, Patrignani C, Shuve BJ, Lacker HM, Bhuyan B, Mallik U, Chen C, Cochran J, Prell S, Gritsan AV, Arnaud N, Davier M, Le Diberder F, Lutz AM, Wormser G, Lange DJ, Wright DM, Coleman JP, Hutchcroft DE, Payne DJ, Touramanis C, Bevan AJ, Di Lodovico F, Cowan G, Banerjee S, Brown DN, Davis CL, Denig AG, Gradl W, Griessinger K, Hafner A, Schubert KR, Barlow RJ, Lafferty GD, Cenci R, Jawahery A, Roberts DA, Cowan R, Robertson… See abstract for full author list ➔ Lees JP, et al. Among authors: palombo f. Phys Rev Lett. 2023 Nov 17;131(20):201801. doi: 10.1103/PhysRevLett.131.201801. Phys Rev Lett. 2023. PMID: 38039482
421 results