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451 results

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Page 1
Altered fatty acid metabolism rewires cholangiocarcinoma stemness features.
Lori G, Pastore M, Navari N, Piombanti B, Booijink R, Rovida E, Tusa I, Lewinska M, Andersen JB, Lottini T, Arcangeli A, Taddei ML, Pranzini E, Mancini C, Anceschi C, Madiai S, Sacco E, Rota S, Trapani A, Agrimi G, Ramazzotti M, Ostano P, Peraldo Neia C, Parri M, Carli F, Sabatini S, Gastaldelli A, Marra F, Raggi C. Lori G, et al. Among authors: mancini c. JHEP Rep. 2024 Aug 6;6(10):101182. doi: 10.1016/j.jhepr.2024.101182. eCollection 2024 Oct. JHEP Rep. 2024. PMID: 39430578 Free PMC article.
Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency.
Martino S, D'Addabbo P, Turchiano A, Radio FC, Bruselles A, Cordeddu V, Mancini C, Stella A, Laforgia N, Capodiferro D, Simonetti S, Bagnulo R, Palumbo O, Marzano F, Tabaku O, Garganese A, Stasi M, Tartaglia M, Pesole G, Resta N. Martino S, et al. Among authors: mancini c. Int J Mol Sci. 2024 Sep 5;25(17):9637. doi: 10.3390/ijms25179637. Int J Mol Sci. 2024. PMID: 39273584 Free PMC article.
Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9.
Stellacci E, Niceta M, Bruselles A, Straface E, Tatti M, Carvetta M, Mancini C, Cecchetti S, Parravano M, Barbano L, Varano M, Tartaglia M, Ziccardi L, Cordeddu V. Stellacci E, et al. Among authors: mancini c. Int J Mol Sci. 2024 Jul 30;25(15):8313. doi: 10.3390/ijms25158313. Int J Mol Sci. 2024. PMID: 39125883 Free PMC article.
Seminological, Hormonal and Ultrasonographic Features of Male Factor Infertility Due to Genetic Causes: Results from a Large Monocentric Retrospective Study.
Mazzilli R, Petrucci S, Zamponi V, Golisano B, Pecora G, Mancini C, Salerno G, Alesi L, De Santis I, Libi F, Rossi C, Borro M, Raffa S, Visco V, Defeudis G, Piane M, Faggiano A. Mazzilli R, et al. Among authors: mancini c. J Clin Med. 2024 Jul 27;13(15):4399. doi: 10.3390/jcm13154399. J Clin Med. 2024. PMID: 39124666 Free PMC article.
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.
Wood KA, Tong RS, Motta M, Cordeddu V, Scimone ER, Bush SJ, Maxwell DW, Giannoulatou E, Caputo V, Traversa A, Mancini C, Ferrero GB, Benedicenti F, Grammatico P, Melis D, Steindl K, Brunetti-Pierri N, Trevisson E, Wilkie AO, Lin AE, Cormier-Daire V, Twigg SR, Tartaglia M, Goriely A. Wood KA, et al. Among authors: mancini c. Am J Hum Genet. 2024 Sep 5;111(9):1953-1969. doi: 10.1016/j.ajhg.2024.07.006. Epub 2024 Aug 7. Am J Hum Genet. 2024. PMID: 39116879 Free PMC article.
Hydroxychloroquine Dose and Hospitalizations for Active Lupus.
Nestor J, Choi H, Mancini C, Zhou B, Zhang Y, Costenbader KH, Jorge A. Nestor J, et al. Among authors: mancini c. Arthritis Rheumatol. 2024 Oct;76(10):1512-1517. doi: 10.1002/art.42924. Epub 2024 Jun 21. Arthritis Rheumatol. 2024. PMID: 38831643
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Dentici ML, Niceta M, Lepri FR, Mancini C, Priolo M, Bonnard AA, Cappelletti C, Leoni C, Ciolfi A, Pizzi S, Cordeddu V, Rossi C, Ferilli M, Mucciolo M, Colona VL, Fauth C, Bellini M, Biasucci G, Sinibaldi L, Briuglia S, Gazzin A, Carli D, Memo L, Trevisson E, Schiavariello C, Luca M, Novelli A, Michot C, Sweertvaegher A, Germanaud D, Scarano E, De Luca A, Zampino G, Zenker M, Mussa A, Dallapiccola B, Cavé H, Digilio MC, Tartaglia M. Dentici ML, et al. Among authors: mancini c. Eur J Hum Genet. 2024 Aug;32(8):954-963. doi: 10.1038/s41431-024-01642-7. Epub 2024 Jun 1. Eur J Hum Genet. 2024. PMID: 38824261
451 results