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A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.
Restaldi F, Alesi V, Aquilani A, Genovese S, Russo S, Coletti V, Pompili D, Falasca R, Dallapiccola B, Capolino R, Luciani M, Novelli A. Restaldi F, et al. Among authors: dallapiccola b. Mol Cytogenet. 2019 Jun 14;12:26. doi: 10.1186/s13039-019-0440-6. eCollection 2019. Mol Cytogenet. 2019. PMID: 31223340 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: dallapiccola b. 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
Costello syndrome: clinical diagnosis in the first year of life.
Digilio MC, Sarkozy A, Capolino R, Chiarini Testa MB, Esposito G, de Zorzi A, Cutrera R, Marino B, Dallapiccola B. Digilio MC, et al. Among authors: dallapiccola b. Eur J Pediatr. 2008 Jun;167(6):621-8. doi: 10.1007/s00431-007-0558-0. Epub 2007 Aug 29. Eur J Pediatr. 2008. PMID: 17726614
977 results