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 Custom 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 24
2025 23
2026 1

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

246 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.
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Mastromoro G, Santoro C, Motta M, Sorrentino U, Daniele P, Peduto C, Petrizzelli F, Tripodi M, Pinna V, Zanobio M, Rotundo G, Bellacchio E, Lepri F, Farina A, D'Asdia MC, Piceci-Sparascio F, Biagini T, Petracca A, Castori M, Melis D, Accadia M, Traficante G, Tarani L, Fontana P, Sirchia F, Paparella R, Currò A, Benedicenti F, Scala I, Dentici ML, Leoni C, Trevisan V, Cecconi A, Giustini S, Pizzuti A, Salviati L, Novelli A, Zampino G, Zenker M, Genuardi M, Digilio MC, Papi L, Perrotta S, Nigro V, Castellanos E, Mazza T, Trevisson E, Tartaglia M, Piluso G, De Luca A. Mastromoro G, et al. Among authors: leoni c. Genet Med. 2024 Nov;26(11):101241. doi: 10.1016/j.gim.2024.101241. Epub 2024 Aug 10. Genet Med. 2024. PMID: 39140257 Free 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.
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.
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.
Bruselles A, Mancini C, Chiriatti L, Carvetta M, Baroni MC, Cappelletti C, Caraffi SG, Celario M, Ciolfi A, Cordeddu V, De Falco A, Ferilli M, Garavelli L, Leoni C, Meossi C, Niceta M, Onesimo R, Peluso F, Politano D, Priolo M, Radio FC, Santorelli F, Signorini S, Sirchia F, Valente EM, Zampino G, Tartaglia M. Bruselles A, et al. Among authors: leoni c. Eur J Hum Genet. 2025 Apr;33(4):432-440. doi: 10.1038/s41431-025-01820-1. Epub 2025 Feb 26. Eur J Hum Genet. 2025. PMID: 40011755
Clonal hematopoiesis is clonally unrelated to multiple myeloma and is associated with specific microenvironmental changes.
Lionetti M, Scopetti M, Matera A, Maeda A, Marella A, Lazzaroni F, Castellano G, Fabris S, Pioggia S, Lonati S, Marchetti A, Cattaneo A, Tornese M, Neri A, Leoni C, Pettine L, Traini V, Silvestris I, Barbieri M, Fabbiano G, Ronchetti D, Taiana E, De Magistris C, Da Vià MC, Passamonti F, Bolli N. Lionetti M, et al. Among authors: leoni c. Blood. 2025 Jul 31;146(5):571-584. doi: 10.1182/blood.2024026236. Blood. 2025. PMID: 40112284 Free article.
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.
Evaluation of a quality improvement intervention to reduce anastomotic leak following right colectomy (EAGLE): pragmatic, batched stepped-wedge, cluster-randomized trial in 64 countries.
ESCP EAGLE Safe Anastomosis Collaborative and NIHR Global Health Research Unit in Surgery. ESCP EAGLE Safe Anastomosis Collaborative and NIHR Global Health Research Unit in Surgery. Br J Surg. 2024 Jan 3;111(1):znad370. doi: 10.1093/bjs/znad370. Br J Surg. 2024. PMID: 38029386 Free PMC article. Clinical Trial.
246 results