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7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling.
Dentici ML, Bergonzini P, Scibelli F, Caciolo C, De Rose P, Cumbo F, Alesi V, Capolino R, Zanni G, Sinibaldi L, Novelli A, Tartaglia M, Digilio MC, Dallapiccola B, Vicari S, Alfieri P. Dentici ML, et al. Among authors: sinibaldi l. Brain Sci. 2020 Nov 11;10(11):839. doi: 10.3390/brainsci10110839. Brain Sci. 2020. PMID: 33187326 Free PMC article.
Duplication 18q21.31-q22.2.
Ceccarini C, Sinibaldi L, Bernardini L, De Simone R, Mingarelli R, Novelli A, Dallapiccola B. Ceccarini C, et al. Among authors: sinibaldi l. Am J Med Genet A. 2007 Feb 15;143(4):343-8. doi: 10.1002/ajmg.a.31588. Am J Med Genet A. 2007. PMID: 17256793
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.
Sinibaldi L, Parisi V, Lanciotti S, Fontana P, Kuechler A, Baujat G, Torres B, Koetting J, Splendiani A, Postorivo D, Beygo J, Garaci FG, Malan V, Lüdecke HJ, Guida V, Krumbiegel M, Lonardo F, Novelli A, Albrecht B, Perria C, Scarano G, Spielmann M, Nardone AM, Battaglia A, Brancati F, Bernardini L. Sinibaldi L, et al. Clin Genet. 2019 Sep;96(3):246-253. doi: 10.1111/cge.13565. Epub 2019 Jun 17. Clin Genet. 2019. PMID: 31090057
The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review.
Cocciadiferro D, Agolini E, Digilio MC, Sinibaldi L, Castori M, Silvestri E, Dotta A, Dallapiccola B, Novelli A. Cocciadiferro D, et al. Among authors: sinibaldi l. Medicine (Baltimore). 2020 Feb;99(8):e19169. doi: 10.1097/MD.0000000000019169. Medicine (Baltimore). 2020. PMID: 32080096 Free PMC article.
107 results