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C. Digilio

Nature Genetics, American Journal of Human Genetics, Human Mutation, Cardiology in the Young, American journal of medical genetics, American Journal of Medical Genetics. Part A, Revista Española de Cardiología Show more
9
Role
Title
Level Year L/R
🐜 A restricted spectrum of NRAS mutations causes Noonan syndrome
31 auth. I. Cirstea, K. Kutsche, R. Dvorsky, L. Gremer, C. Carta, D. Horn, A. Roberts, F. Lepri, Torsten Merbitz-Zahradnik, R. König, C. Kratz, F. Pantaleoni, M. L. Dentici, V. Joshi, R. Kucherlapati, ... L. Mazzanti, S. Mundlos, M. Patton, M. Silengo, C. Rossi, G. Zampino, C. Digilio, L. Stuppia, E. Seemanová, L. Pennacchio, B. Gelb, B. Dallapiccola, A. Wittinghofer, M. Ahmadian, M. Tartaglia, M. Zenker 		8 2010
8
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🐜 Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.
14 auth. C. Carta, F. Pantaleoni, G. Bocchinfuso, L. Stella, I. Vasta, A. Sarkozy, C. Digilio, A. Palleschi, A. Pizzuti, P. Grammatico, ... G. Zampino, B. Dallapiccola, B. Gelb, M. Tartaglia 		7 2006
7
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🐜 Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
39 auth. Viviana Cordeddu, Jiani C. Yin, C. Gunnarsson, C. Virtanen, S. Drunat, F. Lepri, A. Luca, C. Rossi, A. Ciolfi, Trevor J Pugh, A. Bruselles, J. Priest, L. Pennacchio, Zhibin Lu, A. Danesh, ... R. Quevedo, A. Hamid, S. Martinelli, F. Pantaleoni, M. Gnazzo, P. Daniele, Christina Lissewski, G. Bocchinfuso, L. Stella, S. Odent, N. Philip, L. Faivre, M. Vlčková, E. Seemanová, C. Digilio, M. Zenker, G. Zampino, A. Verloes, B. Dallapiccola, A. Roberts, H. Cavé, B. Gelb, B. Neel, M. Tartaglia 		6 2015
6
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🐜 New Findings concerning Cardiovascular Manifestations emerging from Long-term Follow-up of 150 patients with the Williams-Beuren-Beuren syndrome
11 auth. A. del Pasqua, G. Rinelli, A. Toscano, R. Iacobelli, C. Digilio, B. Marino, ... Claudia Saffirio, S. Mondillo, L. Pasquini, S. Sanders, A. de Zorzi 		5 2009
5
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🐬 Familial aplasia cutis congenita and coarctation of the aorta.
B. Dallapiccola, A. Giannotti, B. Marino, C. Digilio, G. Obregón 		4 1992
4
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🐜 Ring 21 chromosome presenting with epilepsy and intellectual disability: Clinical report and review of the literature
9 auth. N. Specchio, A. Carotenuto, M. Trivisano, S. Cappelletti, C. Digilio, R. Capolino, ... M. di Capua, L. Fusco, F. Vigevano 		3 2011
3
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🐢 [Cardiac defects in Mexican children with down syndrome].
B. Marino, G. Calcagni, C. Digilio 		2 2004
2
🐢
🐬 Exercise testing and blood pressure in paediatric patients with Williams syndrome
U. Giordano, A. Turchetta, C. Digilio, A. Giannotti, E. Pastore, A. Calzolari 		0 2000
0
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🐜 Abstract 3280: Impact of Genetic Syndromes on Surgical Outcome of Conotruncal Heart Defects
8 auth. G. Michielon, G. Oricchio, B. Marino, F. Iorio, S. Placidi, C. Digilio, ... R. DiDonato, S. Sanders 		0 2006
0
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