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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. 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
Deletion 2p15-16.1 syndrome: case report and review.
Prontera P, Bernardini L, Stangoni G, Capalbo A, Rogaia D, Romani R, Ardisia C, Dallapiccola B, Donti E. Prontera P, et al. Am J Med Genet A. 2011 Oct;155A(10):2473-8. doi: 10.1002/ajmg.a.33875. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910216 Review.
Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin.
Prontera P, Urciuoli R, Siliquini S, Macone S, Stangoni G, Donti E, Cantisani TA, Elia M, Belcastro V. Prontera P, et al. Am J Med Genet A. 2011 Dec;155A(12):3125-7. doi: 10.1002/ajmg.a.34295. Epub 2011 Nov 3. Am J Med Genet A. 2011. PMID: 22052670 No abstract available.
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.
Rusconi D, Negri G, Colapietro P, Picinelli C, Milani D, Spena S, Magnani C, Silengo MC, Sorasio L, Curtisova V, Cavaliere ML, Prontera P, Stangoni G, Ferrero GB, Biamino E, Fischetto R, Piccione M, Gasparini P, Salviati L, Selicorni A, Finelli P, Larizza L, Gervasini C. Rusconi D, et al. Among authors: prontera p. Hum Genet. 2015 Jun;134(6):613-26. doi: 10.1007/s00439-015-1542-9. Epub 2015 Mar 25. Hum Genet. 2015. PMID: 25805166 Free article. Clinical Trial.
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E. Carrozzo R, et al. Among authors: prontera p. J Inherit Metab Dis. 2016 Mar;39(2):243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16. J Inherit Metab Dis. 2016. PMID: 26475597
119 results