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269 results

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Page 1
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Foroutan A, Haghshenas S, Bhai P, Levy MA, Kerkhof J, McConkey H, Niceta M, Ciolfi A, Pedace L, Miele E, Genevieve D, Heide S, Alders M, Zampino G, Merla G, Fradin M, Bieth E, Bonneau D, Dieterich K, Fergelot P, Schaefer E, Faivre L, Vitobello A, Maitz S, Fischetto R, Gervasini C, Piccione M, van de Laar I, Tartaglia M, Sadikovic B, Lebre AS. Foroutan A, et al. Among authors: zampino g. Int J Mol Sci. 2022 Feb 5;23(3):1815. doi: 10.3390/ijms23031815. Int J Mol Sci. 2022. PMID: 35163737 Free PMC article.
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
Sarkozy A, Carta C, Moretti S, Zampino G, Digilio MC, Pantaleoni F, Scioletti AP, Esposito G, Cordeddu V, Lepri F, Petrangeli V, Dentici ML, Mancini GM, Selicorni A, Rossi C, Mazzanti L, Marino B, Ferrero GB, Silengo MC, Memo L, Stanzial F, Faravelli F, Stuppia L, Puxeddu E, Gelb BD, Dallapiccola B, Tartaglia M. Sarkozy A, et al. Among authors: zampino g. Hum Mutat. 2009 Apr;30(4):695-702. doi: 10.1002/humu.20955. Hum Mutat. 2009. PMID: 19206169 Free PMC article.
Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair.
Ferrero GB, Picco G, Baldassarre G, Flex E, Isella C, Cantarella D, Corà D, Chiesa N, Crescenzio N, Timeus F, Merla G, Mazzanti L, Zampino G, Rossi C, Silengo M, Tartaglia M, Medico E. Ferrero GB, et al. Among authors: zampino g. Hum Mutat. 2012 Apr;33(4):703-9. doi: 10.1002/humu.22026. Epub 2012 Feb 14. Hum Mutat. 2012. PMID: 22253195 Free PMC article.
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. Among authors: zampino g. 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: zampino g. 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
269 results