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Page 1
A restricted spectrum of NRAS mutations causes Noonan syndrome.
Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, König R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, Mazzanti L, Mundlos S, Patton MA, Silengo MC, Rossi C, Zampino G, Digilio C, Stuppia L, Seemanova E, Pennacchio LA, Gelb BD, Dallapiccola B, Wittinghofer A, Ahmadian MR, Tartaglia M, Zenker M. Cirstea IC, et al. Among authors: digilio c. Nat Genet. 2010 Jan;42(1):27-9. doi: 10.1038/ng.497. Epub 2009 Dec 6. Nat Genet. 2010. PMID: 19966803 Free PMC article.
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.
Cordeddu V, Yin JC, Gunnarsson C, Virtanen C, Drunat S, Lepri F, De Luca A, Rossi C, Ciolfi A, Pugh TJ, Bruselles A, Priest JR, Pennacchio LA, Lu Z, Danesh A, Quevedo R, Hamid A, Martinelli S, Pantaleoni F, Gnazzo M, Daniele P, Lissewski C, Bocchinfuso G, Stella L, Odent S, Philip N, Faivre L, Vlckova M, Seemanova E, Digilio C, Zenker M, Zampino G, Verloes A, Dallapiccola B, Roberts AE, Cavé H, Gelb BD, Neel BG, Tartaglia M. Cordeddu V, et al. Among authors: digilio c. Hum Mutat. 2015 Nov;36(11):1080-7. doi: 10.1002/humu.22834. Epub 2015 Aug 3. Hum Mutat. 2015. PMID: 26173643 Free PMC article.
Interstitial deletion del(17) (q21.3q23 or 24.2) syndrome.
Dallapiccola B, Mingarelli R, Digilio C, Obregon MG, Giannotti A. Dallapiccola B, et al. Among authors: digilio c. Clin Genet. 1993 Jan;43(1):54-5. doi: 10.1111/j.1399-0004.1993.tb04452.x. Clin Genet. 1993. PMID: 8462199 No abstract available.
Familial aplasia cutis congenita and coarctation of the aorta.
Dallapiccola B, Giannotti A, Marino B, Digilio C, Obregon G. Dallapiccola B, et al. Among authors: digilio c. Am J Med Genet. 1992 Jul 1;43(4):762-3. doi: 10.1002/ajmg.1320430423. Am J Med Genet. 1992. PMID: 1621771
[Cardiac defects in Mexican children with down syndrome].
Marino B, Calcagni G, Digilio C. Marino B, et al. Among authors: digilio c. Rev Esp Cardiol. 2004 May;57(5):482; author reply 482. Rev Esp Cardiol. 2004. PMID: 15151784 Free article. Spanish. No abstract available.
Yellow fever vaccine-associated adverse events following extensive immunization in Argentina.
Biscayart C, Carrega ME, Sagradini S, Gentile A, Stecher D, Orduna T, Bentancourt S, Jiménez SG, Flynn LP, Arce GP, Uboldi MA, Bugna L, Morales MA, Digilio C, Fabbri C, Enría D, Diosque M, Vizzotti C. Biscayart C, et al. Among authors: digilio c. Vaccine. 2014 Mar 5;32(11):1266-72. doi: 10.1016/j.vaccine.2014.01.015. Epub 2014 Jan 21. Vaccine. 2014. PMID: 24456625