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

Year Number of Results
2002 3
2009 4
2010 3
2011 4
2012 2
2013 3
2014 6
2015 7
2016 7
2017 3
2018 2
2019 6
2020 11
2021 19
2022 35
2023 28
2024 6

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124 results

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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.
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.
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.
Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.
Onesimo R, Giorgio V, Viscogliosi G, Sforza E, Kuczynska E, Margiotta G, Iademarco M, Proli F, Rigante D, Zampino G, Leoni C. Onesimo R, et al. Among authors: leoni c. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):478-493. doi: 10.1002/ajmg.c.32019. Epub 2022 Dec 14. Am J Med Genet C Semin Med Genet. 2022. PMID: 36515923 Review.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Among authors: leoni c. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
Recognition Memory in Noonan Syndrome.
Costanzo F, Alfieri P, Caciolo C, Bergonzini P, Perrino F, Zampino G, Leoni C, Menghini D, Digilio MC, Tartaglia M, Vicari S, Carlesimo GA. Costanzo F, et al. Among authors: leoni c. Brain Sci. 2021 Jan 29;11(2):169. doi: 10.3390/brainsci11020169. Brain Sci. 2021. PMID: 33572736 Free PMC article.
124 results