Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1945 1
1950 1
1982 1
1985 1
1986 1
1987 1
1989 1
1992 1
1993 1
1994 1
1997 3
1999 2
2001 2
2002 3
2006 1
2008 3
2009 4
2010 7
2011 6
2012 7
2013 4
2014 9
2015 11
2016 10
2017 10
2018 4
2019 12
2020 20
2021 28
2022 43
2023 33
2024 13

Text availability

Article attribute

Article type

Publication date

Search Results

213 results

Results by year

Filters applied: . Clear all
Page 1
ANKRD11 variants: KBG syndrome and beyond.
Parenti I, Mallozzi MB, Hüning I, Gervasini C, Kuechler A, Agolini E, Albrecht B, Baquero-Montoya C, Bohring A, Bramswig NC, Busche A, Dalski A, Guo Y, Hanker B, Hellenbroich Y, Horn D, Innes AM, Leoni C, Li YR, Lynch SA, Mariani M, Medne L, Mikat B, Milani D, Onesimo R, Ortiz-Gonzalez X, Prott EC, Reutter H, Rossier E, Selicorni A, Wieacker P, Wilkens A, Wieczorek D, Zackai EH, Zampino G, Zirn B, Hakonarson H, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ. Parenti I, et al. Among authors: leoni c. Clin Genet. 2021 Aug;100(2):187-200. doi: 10.1111/cge.13977. Epub 2021 May 14. Clin Genet. 2021. PMID: 33955014 Free article.
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Jia X, Zhang S, Tan S, Du B, He M, Qin H, Chen J, Duan X, Luo J, Chen F, Ouyang L, Wang J, Chen G, Yu B, Zhang G, Zhang Z, Lyu Y, Huang Y, Jiao J, Chen JYH, Swoboda KJ, Agolini E, Novelli A, Leoni C, Zampino G, Cappuccio G, Brunetti-Pierri N, Gerard B, Ginglinger E, Richer J, McMillan H, White-Brown A, Hoekzema K, Bernier RA, Kurtz-Nelson EC, Earl RK, Meddens C, Alders M, Fuchs M, Caumes R, Brunelle P, Smol T, Kuehl R, Day-Salvatore DL, Monaghan KG, Morrow MM, Eichler EE, Hu Z, Yuan L, Tan J, Xia K, Shen Y, Guo H. Jia X, et al. Among authors: leoni c. Sci Adv. 2022 Aug 19;8(33):eabo7112. doi: 10.1126/sciadv.abo7112. Epub 2022 Aug 17. Sci Adv. 2022. PMID: 35977029 Free PMC article.
Bone health in RASopathies.
Stevenson DA, Viscogliosi G, Leoni C. Stevenson DA, et al. Among authors: leoni c. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):459-470. doi: 10.1002/ajmg.c.32020. Epub 2022 Dec 2. Am J Med Genet C Semin Med Genet. 2022. PMID: 36461161 Review.
Dermatological manifestations, management, and care in RASopathies.
Kavamura MI, Leoni C, Neri G. Kavamura MI, et al. Among authors: leoni c. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):452-458. doi: 10.1002/ajmg.c.32027. Epub 2022 Dec 21. Am J Med Genet C Semin Med Genet. 2022. PMID: 36541891 Review.
Amylomaltases in Extremophilic Microorganisms.
Leoni C, Gattulli BAR, Pesole G, Ceci LR, Volpicella M. Leoni C, et al. Biomolecules. 2021 Sep 9;11(9):1335. doi: 10.3390/biom11091335. Biomolecules. 2021. PMID: 34572549 Free PMC article. Review.
Chitinases as Food Allergens.
Leoni C, Volpicella M, Dileo M, Gattulli BAR, Ceci LR. Leoni C, et al. Molecules. 2019 May 31;24(11):2087. doi: 10.3390/molecules24112087. Molecules. 2019. PMID: 31159327 Free PMC article. Review.
Efficacy and safety of growth hormone therapy in children with Noonan syndrome.
Sodero G, Cipolla C, Pane LC, Sessa L, Malavolta E, Arzilli F, Leoni C, Zampino G, Rigante D. Sodero G, et al. Among authors: leoni c. Growth Horm IGF Res. 2023 Apr-Jun;69-70:101532. doi: 10.1016/j.ghir.2023.101532. Epub 2023 Apr 9. Growth Horm IGF Res. 2023. PMID: 37084633 Free article. Review.
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.
Turco EM, Giovenale AMG, Sireno L, Mazzoni M, Cammareri A, Marchioretti C, Goracci L, Di Veroli A, Marchesan E, D'Andrea D, Falconieri A, Torres B, Bernardini L, Magnifico MC, Paone A, Rinaldo S, Della Monica M, D'Arrigo S, Postorivo D, Nardone AM, Zampino G, Onesimo R, Leoni C, Caicci F, Raimondo D, Binda E, Trobiani L, De Jaco A, Tata AM, Ferrari D, Cutruzzolà F, Mazzoccoli G, Ziviani E, Pennuto M, Vescovi AL, Rosati J. Turco EM, et al. Among authors: leoni c. Cell Death Dis. 2022 Nov 21;13(11):981. doi: 10.1038/s41419-022-05410-7. Cell Death Dis. 2022. PMID: 36411275 Free PMC article.
213 results