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833 results

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Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation.
de Billy E, Strocchio L, Cacchione A, Agolini E, Gnazzo M, Novelli A, De Vito R, Capolino R, Digilio MC, Caruso R, Mastronuzzi A, Locatelli F. de Billy E, et al. Among authors: novelli a. Am J Med Genet A. 2019 Jan;179(1):113-117. doi: 10.1002/ajmg.a.60674. Epub 2018 Dec 20. Am J Med Genet A. 2019. PMID: 30569626
2q31.2q32.3 deletion syndrome: report of an adult patient.
Prontera P, Bernardini L, Stangoni G, Capalbo A, Rogaia D, Ardisia C, Novelli A, Dallapiccola B, Donti E. Prontera P, et al. Among authors: novelli a. Am J Med Genet A. 2009 Feb 15;149A(4):706-12. doi: 10.1002/ajmg.a.32688. Am J Med Genet A. 2009. PMID: 19248183
16p subtelomeric duplication: a clinically recognizable syndrome.
Digilio MC, Bernardini L, Capalbo A, Capolino R, Gagliardi MG, Marino B, Novelli A, Dallapiccola B. Digilio MC, et al. Among authors: novelli a. Eur J Hum Genet. 2009 Sep;17(9):1135-40. doi: 10.1038/ejhg.2009.14. Epub 2009 Mar 18. Eur J Hum Genet. 2009. PMID: 19293839 Free PMC article.
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?
Bernardini L, Alesi V, Loddo S, Novelli A, Bottillo I, Battaglia A, Digilio MC, Zampino G, Ertel A, Fortina P, Surrey S, Dallapiccola B. Bernardini L, et al. Among authors: novelli a. Eur J Hum Genet. 2010 Feb;18(2):178-85. doi: 10.1038/ejhg.2009.154. Epub 2009 Oct 7. Eur J Hum Genet. 2010. PMID: 19809473 Free PMC article.
833 results