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Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
Spena S, Milani D, Rusconi D, Negri G, Colapietro P, Elcioglu N, Bedeschi F, Pilotta A, Spaccini L, Ficcadenti A, Magnani C, Scarano G, Selicorni A, Larizza L, Gervasini C. Spena S, et al. Among authors: selicorni a. Clin Genet. 2015 Nov;88(5):431-40. doi: 10.1111/cge.12537. Epub 2014 Dec 9. Clin Genet. 2015. PMID: 25388907
FISH analysis in Prader-Willi and Angelman syndrome patients.
Bettio D, Rizzi N, Giardino D, Grugni G, Briscioli V, Selicorni A, Carnevale F, Larizza L. Bettio D, et al. Among authors: selicorni a. Am J Med Genet. 1995 Mar 27;56(2):224-8. doi: 10.1002/ajmg.1320560222. Am J Med Genet. 1995. PMID: 7625450
The Williams syndrome: an Italian collaborative study.
Franceschini P, Guala A, Vardeu MP, Signorile F, Franceschini D, Mastroiacovo P, Gianotti A, Livini E, Lalatta F, Selicorni A, Andria G, Scarano G, Della Monica M, Rizzo R, Zelante L, Stabile M, Gabrielli O, Neri G. Franceschini P, et al. Among authors: selicorni a. Minerva Pediatr. 1996 Oct;48(10):421-8. Minerva Pediatr. 1996. PMID: 9017917
Costello syndrome: a cancer predisposing syndrome?
Moroni I, Bedeschi F, Luksch R, Casanova M, D'Incerti L, Uziel G, Selicorni A. Moroni I, et al. Among authors: selicorni a. Clin Dysmorphol. 2000 Oct;9(4):265-8. doi: 10.1097/00019605-200009040-00006. Clin Dysmorphol. 2000. PMID: 11045582 Review.
263 results