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Page 1
Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features.
Uliana V, Ambrosini E, Taiani A, Cesarini S, Cannizzaro IR, Negrotti A, Serra W, Quintavalle G, Micale L, Fusco C, Castori M, Martorana D, Bortesi B, Belli L, Percesepe A, Pisani F, Barili V. Uliana V, et al. Among authors: micale l. Genes (Basel). 2024 Jul 13;15(7):916. doi: 10.3390/genes15070916. Genes (Basel). 2024. PMID: 39062695 Free PMC article. Review.
Amplification of the G allele at SNP rs6983267 in 8q24 amplicons in myeloid malignancies as cause of the lack of MYC overexpression?
Micale L, Augello B, Daniele G, Macchia G, L'abbate A, Muehlematter D, Vandenberghe P, Johansson B, Cabrol C, Solé F, Dastugue N, Slovak ML, Lillington D, Raynaud S, Lafage M, Nacheva ED, Merla G, Storlazzi CT. Micale L, et al. Among authors: l abbate a. Blood Cells Mol Dis. 2011 Dec 15;47(4):259-61. doi: 10.1016/j.bcmd.2011.09.001. Epub 2011 Sep 25. Blood Cells Mol Dis. 2011. PMID: 21945030 No abstract available.
Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.
Micale L, Fusco C, Augello B, Napolitano LM, Dermitzakis ET, Meroni G, Merla G, Reymond A. Micale L, et al. Eur J Hum Genet. 2008 Sep;16(9):1038-49. doi: 10.1038/ejhg.2008.68. Epub 2008 Apr 9. Eur J Hum Genet. 2008. PMID: 18398435 Free PMC article.
The tripartite motif: structure and function.
Micale L, Chaignat E, Fusco C, Reymond A, Merla G. Micale L, et al. Adv Exp Med Biol. 2012;770:11-25. Adv Exp Med Biol. 2012. PMID: 23630997 Review.
Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.
Fusco C, Micale L, Augello B, Teresa Pellico M, Menghini D, Alfieri P, Cristina Digilio M, Mandriani B, Carella M, Palumbo O, Vicari S, Merla G. Fusco C, et al. Among authors: micale l. Eur J Hum Genet. 2014 Jan;22(1):64-70. doi: 10.1038/ejhg.2013.101. Epub 2013 Jun 12. Eur J Hum Genet. 2014. PMID: 23756441 Free PMC article.
74 results