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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 6

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96 results

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Page 1
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.
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.
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.
Statins in children: A monocentric experience.
Buonuomo PS, Mastrogiorgio G, Macchiaiolo M, Rana I, Gonfiantini MV, Marafon DP, Bartuli A. Buonuomo PS, et al. Among authors: bartuli a. J Clin Lipidol. 2018 Sep-Oct;12(5):1326-1327. doi: 10.1016/j.jacl.2018.06.009. Epub 2018 Jun 26. J Clin Lipidol. 2018. PMID: 30033004 No abstract available.
[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.
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.
Bartonella henselae in Italy: a rare seasonal infection.
Mennini M, Valentini D, Di Camillo C, Vittucci AC, Grandin A, Lancella L, Bartuli A, Villani A. Mennini M, et al. Among authors: bartuli a. Minerva Pediatr. 2019 Oct;71(5):415-419. doi: 10.23736/S0026-4946.16.04414-5. Epub 2016 Mar 23. Minerva Pediatr. 2019. PMID: 27008366
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.
Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronym.
Macchiaiolo M, Panfili FM, Vecchio D, Cortellessa F, Gonfiantini MV, Buonuomo PS, Pietrobattista A, Francalanci P, Travaglini L, Bertini ES, El Hachem M, Bartuli A. Macchiaiolo M, et al. Among authors: bartuli a. Am J Med Genet A. 2022 Oct;188(10):2920-2931. doi: 10.1002/ajmg.a.62906. Epub 2022 Jul 23. Am J Med Genet A. 2022. PMID: 35869874 Free PMC article. Review.
96 results