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

Year Number of Results
1985 1
1988 1
1990 2
1992 2
1995 1
1996 1
2001 1
2002 2
2003 1
2004 1
2008 1
2009 1
2010 3
2011 2
2012 3
2013 9
2014 11
2015 7
2016 7
2017 11
2018 4
2019 4
2020 12
2021 6
2022 13
2023 9
2024 3

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101 results

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Page 1
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Hiatt SM, et al. Among authors: bartuli a. Am J Hum Genet. 2023 Feb 2;110(2):215-227. doi: 10.1016/j.ajhg.2022.12.007. Epub 2022 Dec 30. Am J Hum Genet. 2023. PMID: 36586412 Free PMC article.
Evolocumab in Pediatric Heterozygous Familial Hypercholesterolemia.
Santos RD, Ruzza A, Hovingh GK, Wiegman A, Mach F, Kurtz CE, Hamer A, Bridges I, Bartuli A, Bergeron J, Szamosi T, Santra S, Stefanutti C, Descamps OS, Greber-Platzer S, Luirink I, Kastelein JJP, Gaudet D; HAUSER-RCT Investigators. Santos RD, et al. Among authors: bartuli a. N Engl J Med. 2020 Oct 1;383(14):1317-1327. doi: 10.1056/NEJMoa2019910. Epub 2020 Aug 29. N Engl J Med. 2020. PMID: 32865373 Clinical Trial.
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
Fasano G, Muto V, Radio FC, Venditti M, Mosaddeghzadeh N, Coppola S, Paradisi G, Zara E, Bazgir F, Ziegler A, Chillemi G, Bertuccini L, Tinari A, Vetro A, Pantaleoni F, Pizzi S, Conti LA, Petrini S, Bruselles A, Prandi IG, Mancini C, Chandramouli B, Barth M, Bris C, Milani D, Selicorni A, Macchiaiolo M, Gonfiantini MV, Bartuli A, Mariani R, Curry CJ, Guerrini R, Slavotinek A, Iascone M, Dallapiccola B, Ahmadian MR, Lauri A, Tartaglia M. Fasano G, et al. Among authors: bartuli a. Nat Commun. 2022 Nov 11;13(1):6841. doi: 10.1038/s41467-022-34354-x. Nat Commun. 2022. PMID: 36369169 Free PMC article.
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Sinibaldi L, Garone G, Mandarino A, Iarossi G, Chioma L, Dentici ML, Merla G, Agolini E, Micalizzi A, Mancini C, Niceta M, Macchiaiolo M, Diodato D, Onesimo R, Blandino R, Delogu AB, De Rosa G, Trevisan V, Iademarco M, Zampino G, Tartaglia M, Novelli A, Bartuli A, Digilio MC, Calcagni G. Sinibaldi L, et al. Among authors: bartuli a. Clin Genet. 2023 Nov;104(5):528-541. doi: 10.1111/cge.14404. Epub 2023 Jul 17. Clin Genet. 2023. PMID: 37455656
[Multidisciplinary approach].
Bartuli A, Bertini E, Callea F, Cappa M, Caviglia S, D'argenio P, De Benedetti F, Digilio MC, Dionisi Vici C, El Hachem M, Emma F, Nobili V, Pagnotta G, Vignati E. Bartuli A, et al. Minerva Pediatr. 2009 Dec;61(6):689-91. Minerva Pediatr. 2009. PMID: 19935526 Italian. No abstract available.
Expanding the clinical spectrum associated with PACS2 mutations.
Dentici ML, Barresi S, Niceta M, Ciolfi A, Trivisano M, Bartuli A, Digilio MC, Specchio N, Dallapiccola B, Tartaglia M. Dentici ML, et al. Among authors: bartuli a. Clin Genet. 2019 Apr;95(4):525-531. doi: 10.1111/cge.13516. Epub 2019 Feb 28. Clin Genet. 2019. PMID: 30684285 Review.
Characterization of Extracellular Vesicles in Osteoporotic Patients Compared to Osteopenic and Healthy Controls.
Pepe J, Rossi M, Battafarano G, Vernocchi P, Conte F, Marzano V, Mariani E, Mortera SL, Cipriani C, Rana I, Buonuomo PS, Bartuli A, De Martino V, Pelle S, Pascucci L, Toniolo RM, Putignani L, Minisola S, Del Fattore A. Pepe J, et al. Among authors: bartuli a. J Bone Miner Res. 2022 Nov;37(11):2186-2200. doi: 10.1002/jbmr.4688. Epub 2022 Sep 14. J Bone Miner Res. 2022. PMID: 36053959 Free PMC article.
Ancient Romans and Down Syndrome.
Vecchio D, Macchiaiolo M, Gonfiantini MV, Bartuli A. Vecchio D, et al. Among authors: bartuli a. Pediatr Res. 2021 Dec;90(6):1266-1267. doi: 10.1038/s41390-021-01366-0. Epub 2021 Feb 2. Pediatr Res. 2021. PMID: 33531671 No abstract available.
Homozygous familial hypercholesterolaemia.
Macchiaiolo M, Gagliardi MG, Toscano A, Guccione P, Bartuli A. Macchiaiolo M, et al. Among authors: bartuli a. Lancet. 2012 Apr 7;379(9823):1330. doi: 10.1016/S0140-6736(11)61476-1. Epub 2012 Jan 27. Lancet. 2012. PMID: 22285056 No abstract available.
Question 2: Should steroids be used in the treatment of septic arthritis?
Macchiaiolo M, Buonuomo PS, Mennini M, Villani A, Bartuli A. Macchiaiolo M, et al. Among authors: bartuli a. Arch Dis Child. 2014 Aug;99(8):785-7. doi: 10.1136/archdischild-2013-305617. Epub 2014 Apr 25. Arch Dis Child. 2014. PMID: 24771305 Review. No abstract available.
101 results