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How pain affect real life of children and adults with achondroplasia: A systematic review.
Onesimo R, Sforza E, Bedeschi MF, Leoni C, Giorgio V, Rigante D, De Rose C, Kuczynska EM, Romeo DM, Palmacci O, Massimi L, Porro M, Gonfiantini MV, Selicorni A, Allegri A, Maghnie M, Zampino G. Onesimo R, et al. Among authors: leoni c. Eur J Med Genet. 2023 Nov;66(11):104850. doi: 10.1016/j.ejmg.2023.104850. Epub 2023 Sep 26. Eur J Med Genet. 2023. PMID: 37758167 Free article.
Wolf-Hirschhorn syndrome with improvement of renal function.
Ferrara P, Del Bufalo F, Nicoletti A, Romano V, Gatto A, Leoni C, Zampino G. Ferrara P, et al. Among authors: leoni c. Am J Med Genet A. 2010 May;152A(5):1283-4. doi: 10.1002/ajmg.a.33357. Am J Med Genet A. 2010. PMID: 20425837
Decreased bone mineral density in Costello syndrome.
Leoni C, Stevenson DA, Martini L, De Sanctis R, Mascolo G, Pantaleoni F, De Santis S, La Torraca I, Persichilli S, Caradonna P, Tartaglia M, Zampino G. Leoni C, et al. Mol Genet Metab. 2014 Jan;111(1):41-5. doi: 10.1016/j.ymgme.2013.08.007. Epub 2013 Aug 16. Mol Genet Metab. 2014. PMID: 24246682
Behavioral profile in RASopathies.
Alfieri P, Piccini G, Caciolo C, Perrino F, Gambardella ML, Mallardi M, Cesarini L, Leoni C, Leone D, Fossati C, Selicorni A, Digilio MC, Tartaglia M, Mercuri E, Zampino G, Vicari S. Alfieri P, et al. Among authors: leoni c. Am J Med Genet A. 2014 Apr;164A(4):934-42. doi: 10.1002/ajmg.a.36374. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458522
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
Pinna V, Lanari V, Daniele P, Consoli F, Agolini E, Margiotti K, Bottillo I, Torrente I, Bruselles A, Fusilli C, Ficcadenti A, Bargiacchi S, Trevisson E, Forzan M, Giustini S, Leoni C, Zampino G, Digilio MC, Dallapiccola B, Clementi M, Tartaglia M, De Luca A. Pinna V, et al. Among authors: leoni c. Eur J Hum Genet. 2015 Aug;23(8):1068-71. doi: 10.1038/ejhg.2014.243. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25370043 Free PMC article.
223 results